Materiały źródłowe

• #1 Systemic mastocytosis – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/systemic-mastocytosis/diagnosis-treatment/drc-20450478

  Treatment may vary, depending on the type of systemic mastocytosis and the body organs affected. Treatment generally includes controlling symptoms, treating the disease and regular monitoring. […] Identifying and avoiding factors that may trigger your mast cells, such as certain foods, medications or insect stings, can help keep your systemic mastocytosis symptoms under control. […] Your doctor may recommend medications to: Treat symptoms, for example, with antihistamines; Reduce stomach acid and discomfort in your digestive system; Counteract the effects of the substances released by your mast cells, for example with corticosteroids; Inhibit the KIT gene to reduce the production of mast cells. […] If you have aggressive systemic mastocytosis, systemic mastocytosis associated with another blood disorder or mast cell leukemia, you may be treated with chemotherapy medications to reduce the number of mast cells.

• #2 Systemic Mastocytosis: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/24386-systemic-mastocytosis

  Healthcare providers cant cure the condition. But treatment can ease your symptoms. […] Healthcare providers treat systemic mastocytosis by managing symptoms and complications. For example, if you have excess stomach acid, they may prescribe H2 blockers (antacids). If the condition causes anemia, theyll treat the anemia. […] Systemic mastocytosis treatments may include: Antihistamines to relieve itching, flushing and other skin reactions; Corticosteroids to reduce inflammation; Bisphosphonates to help with bone weakness; Targeted therapy, which focuses on the protein in abnormal mast cells; Chemotherapy, if systemic mastocytosis becomes cancerous; Splenectomy to remove an enlarged spleen; Bone marrow transplant to treat aggressive or advanced systemic mastocytosis. […] Theres no cure for systemic mastocytosis. But healthcare providers have treatment strategies to manage symptoms and complications. […] A bone marrow transplant can permanently get rid of systemic mastocytosis. But healthcare providers reserve this treatment for those with the most aggressive forms of the condition.

• #3 Systemic Mastocytosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544345/

  Systemic mastocytosis is an aggressive disorder characterized by the release of numerous vasoactive cell mediators due to excessive activity of mast cells, which results in a wide variety of symptoms. […] This activity outlines the evaluation and management of systemic mastocytosis and reviews the roles of the interprofessional team in evaluating and treating patients with this condition. […] Outline the treatment and management options available for systemic mastocytosis. […] Management for systemic mastocytosis has its basis in symptoms and subtypes. […] The following therapies may be necessary for symptomatic patients with any subtype of systemic mastocytosis (SM). […] Initial pharmacologic treatment includes the use of H1 and H2 antihistamines. H1 antihistamines are administered to prevent flushing and itching. H2 antihistamines may help with abdominal pain, heartburn, cramping, and/or diarrhea.

• #4 Treatment – The Australasian Mastocytosis Society

  https://mastocytosis.org.au/mast-cells-explained/treatment/

  There is no cure for mastocytosis, several treatments can be used to relieve symptoms. Take time to learn about all of your treatment options and be sure to ask questions about things that are unclear. Talk with your health care team about the goals of each treatment from a medical and individual (personal) perspective, ensuring quality of life goals are always supported. […] An important part of treating mastocytosis is controlling a person’s symptoms. One important way to do this is to avoid anything that may cause mast cells to release mediators like histamine, one of hundreds of mediators. This may include extreme temperatures, alcohol, emotional stress, insect bites and certain medications. […] Doctors may recommend the following treatments to help manage symptoms of mastocytosis.

• #5 Mastocytosis — DermNet

  https://dermnetnz.org/topics/mastocytosis

  Systemic mastocytosis treatments include: […] Avapritinib targets the KIT gene and has been FDA (in the US) and NICE approved (in the UK) for treating advanced systemic and indolent disease and has been shown to reduce uncontrolled systemic symptoms of mastocytosis and serum tryptase levels. […] Cytoreductive treatment in systemic mastocytosis can result in disappearance of skin lesions in these patients. […] Rapidly progressive systemic mastocytosis, mast cell leukaemia, and mast cell sarcoma may be treated with chemotherapy and bone marrow stem cell transplantation.

• #6 Current and Emergent Therapies for Systemic Mastocytosis

  https://www.targetedonc.com/view/current-and-emergent-therapies-for-systemic-mastocytosis

  The field of mastocytosis is witnessing a paradigm shift with precision medicine in the form of mutant KIT inhibitors. […] The options have been limited to trigger avoidance, supportive care using drugs such as proton pump inhibitors, H1 and H2 blockers, leukotriene antagonists and mast cell stabilizers, and use of epinephrine pens for management of anaphylaxis. […] However, the field is fortunately witnessing a paradigm shift with precision medicine in the form of mutant KIT inhibitors. […] The findings led to a major shift in treatment approach from cladribine/interferon to KIT inhibition and formed the basis of regulatory approval of the drug. […] Together, these studies led to the approval of avapritinib for patients with advanced SM. Improved outcomes and a better adverse event profile compared with midostaurin have led to avapritinib being preferred in patients with advanced SM.

• #7 Recent Advances in the Therapeutic Management of Advanced Systemic Mastocytosis

  https://www.mdpi.com/2075-4418/14/1/80

  Advanced systemic mastocytosis (AdvSM) is a rare haematological neoplasm characterised by the accumulation of neoplastic mast cells (MCs) in various organs, resulting in organ dysfunction and reduced life expectancy. […] The availability of tyrosine kinase inhibitors (TKIs) has revolutionised the treatment landscape for patients with this life-limiting disease. Patients are now able to achieve molecular remission, improved quality of life and improved overall survival. This review focuses on the targeted therapies currently available in clinical practice and within the clinical trial setting for AdvSM. […] On confirmation of the diagnosis, an individualised and multi-disciplinary treatment approach in a specialised centre is recommended. All patients should be counselled on strategies to avoid known triggers of MC degranulation.

• #8 Systemic mastocytosis – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/systemic-mastocytosis/diagnosis-treatment/drc-20450478

  For people who have an advanced form of systemic mastocytosis called mast cell leukemia, a stem cell transplant may be an option. […] Your doctor regularly monitors the status of your condition using blood and urine samples. You may be able to use a special home kit to collect blood and urine samples while you’re experiencing symptoms, which gives your doctor a better picture of how systemic mastocytosis affects your body. Regular bone density measurements can monitor you for problems such as osteoporosis.

• #9 Systemic mastocytosis – Overview of Information and Clinical Research

  https://clinicaltrials.eu/disease/systemic-mastocytosis/

  Systemic mastocytosis is a rare and complex disorder that requires a comprehensive and personalized treatment approach. This condition, characterized by the excessive activity of mast cells, can lead to a wide range of symptoms, making its management multifaceted. From medication options to advanced treatments and lifestyle adjustments, the strategies for managing systemic mastocytosis are diverse and tailored to the individual’s specific needs. Understanding the prognosis and participating in clinical trials are also crucial components of managing this condition effectively. This article delves into the various treatment options, symptom management strategies, and the importance of personalized care plans for individuals living with systemic mastocytosis. […] The treatment strategy for this condition is multifaceted, focusing on symptom control, disease management, and regular monitoring. The approach varies depending on the type of systemic mastocytosis and the severity of symptoms.

• #10 Systemic Mastocytosis Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/203948-treatment

  Therapy for systemic mastocytosis (systemic mast cell disease) is primarily symptomatic; no therapy is curative. Treatment modalities include the management of (1) anaphylaxis and related symptoms, (2) pruritus and flushing, and (3) intestinal malabsorption. The principles of treatment include control of symptoms with measures to decrease mast cell activation. […] Epinephrine is used in acute anaphylaxis. H1 and H2 receptor blockers are used to control anaphylactic symptoms. Acute anaphylaxis can be treated with 0.3 mL of a 1:1000 dilution of epinephrine. In children, the dose is 0.01 mL/kg (up to 0.3 mL) administered every 10-15 minutes as needed. […] Antihistamines (H1 and H2 receptor blockers) are part of initial pharmacologic treatment in systemic mastocytosis. H1 antagonists are used to treat pruritus and flushing. Nonsedating antihistamines (eg, cetirizine, desloratadine) may be recommended for daytime use, and sedating ones (eg, diphenhydramine, hydroxyzine) for nighttime use.

• #11 Systemic Mastocytosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544345/

  Antileukotriene agents may be an option in patients with flushing, itching, or abdominal cramping unresponsive to H1 and H2 antihistamines. […] For patients with systemic mastocytosis who experience recurrent anaphylaxis or mast cell activation symptoms with hemodynamic instability despite trigger avoidance, maximized doses of anti-mediator agents (H1 and H2 antihistamines and anti-leukotriene drugs) may provide benefit. […] Omalizumab (anti-IgE), a humanized monoclonal antibody that inhibits the binding of IgE to mast cells, reduced the frequency of anaphylaxis in a few patients with SM or monoclonal mast cell activation syndrome. […] Gastrointestinal symptoms in patients with systemic mastocytosis may respond to oral cromolyn sodium, H2 antihistamines, and proton pump inhibitors (PPIs).

• #12 Treatment of Indolent and Advanced Systemic Mastocytosis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9084172/

  Management of Indolent and Smoldering SM is focused on preventing anaphylactic reactions and identifying and avoiding symptom triggers. Skin and gastrointestinal symptoms are managed with H1- and H2-antihistamines. When skin symptoms are not adequately controlled, leukotriene antagonists and oral psoralen combined with ultraviolet therapy may be added. Proton pump inhibitors, sodium cromolyn, and oral corticosteroids may be added for gastrointestinal symptoms. Patients should be prescribed self-injectable epinephrine and trained to treat recurrent cardiovascular symptoms or anaphylaxis. Depression and cognitive impairment require a psychiatric evaluation for tailored treatment. Bone involvement is managed with bisphosphonates and eventually interferon. Omalizumab is effective on all vasomotor symptoms, including anaphylaxis, but not on respiratory, musculoskeletal, and neuropsychiatric symptoms. A cytoreductive treatment is not recommended unless anti-mediator therapy has failed. Venom immunotherapy is mandatory for patients with Hymenoptera venom allergy. There is no curative option for patients with advanced SM. The available therapeutic options include tyrosine-kinase inhibitors and cladribine, with variable duration and extent of response. Imatinib mesylate was the first drug approved for SM lacking the cKIT D816V mutation; dasatinib and nilotinib are ineffective. Midostaurin is active on both wild-type and mutant cKIT D816V, while Avapritinib is a selective cKIT D816V inhibitor: they are approved for the treatment of advanced SM. Cladribine is a purine analog with significant activity against monocytes that were thought to have a common progenitor with mast cells. Allogeneic stem cell transplantation is usually performed in younger selected patients.

• #13 Systemic Mastocytosis Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/203948-treatment

  Aspirin can be used in patients with flushing that is unresponsive to antihistamines. […] H2 receptor blockers have been used to treat gastric hypersecretion and peptic ulcer disease associated with systemic mastocytosis. Proton pump inhibitors are also useful for this. […] Cromolyn sodium has demonstrated multiple benefits in systemic mastocytosis. It has proved useful for relieving abdominal pain and diarrhea; pruritus, whealing, and flushing; and impaired cognition. […] In patients with anaphylaxis that is recurrent or refractory to conventional therapies, omalizumab (anti-immunoglobulin E [IgE]), a humanized monoclonal antibody that inhibits the binding of IgE to mast cells, reduced the frequency of anaphylaxis in some patients with systemic mastocytosis. […] This use of omalizumab is not approved by the US Food and Drug Administration (FDA). However, the Joint Task Force on Practice Parameters of the American Academy of Allergy, Asthma Immunology and the American College of Allergy, Asthma and Immunology recommends off-label use of omalizumab in patients with mastocytosis who have recurrent anaphylaxis despite optimized prophylactic therapy with H1 and H2 antihistamines.

• #14 Systemic Mastocytosis

  https://www.aaaai.org/conditions-treatments/related-conditions/systemic-mastocytosis

  Most adult patients fit into the indolent systemic mastocytosis category. While they may be symptomatic, indolent systemic mastocytosis patients generally have low morbidity and normal life expectancy not different from their peers. […] The objective of treatment is to control the effects of mast cell released mediators by avoidance of triggers, as well as the use of various medications. Most treatment is supportive, but there have been recent successes with targeted therapies. Topicals, such as emollients, are important to keep skin moisturized and less prone to physical stimuli. Topical corticosteroids are not routinely used. Antihistamines, including both H1 and H2 antihistamines, are commonly used to block the effects of mast cell histamine. Mast cell stabilizers, such as cromolyn sodium and ketotifen, along with leukotriene inhibiting agents, may provide benefit. Epinephrine may be required to treat episodes of anaphylaxis or low blood pressure. It is suggested that mastocytosis patients should carry two epinephrine injectors due to the increased mast cell burden and increased mediator release. More aggressive forms of systemic mastocytosis may require interferon, immune modulators or chemotherapeutic agents. Osteoporosis therapy can ameliorate bone damage. Anemia and low platelet counts are treated by transfusion. Targeted therapies, such as kinase inhibitors, are now proving to be of value in aggressive disease and more recently to increase the quality of life of patients with indolent systemic mastocytosis.

• #15 Mastocytosis and Mast Cell Activation Syndrome – Immunology; Allergic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/immunology-allergic-disorders/allergic-autoimmune-and-other-hypersensitivity-disorders/mastocytosis-and-mast-cell-activation-syndrome

  Systemic mastocytosis most commonly occurs in adults and is characterized by multifocal bone marrow lesions; it often involves other organs, most commonly skin, lymph nodes, liver, spleen, and/or gastrointestinal (GI) tract. […] For systemic mastocytosis and mast cell activation syndrome, H1 and H2 blockers, cromolyn, ketotifen, montelukast, and aspirin. […] For aggressive forms, midostaurin, avapritinib, interferon alfa-2b, or corticosteroids. […] All patients with systemic mastocytosis should be treated with H1 and H2 blockers and should carry a prefilled, self-injecting epinephrine syringe. […] Cromolyn may help by preventing mast cell degranulation. Ketotifen may also be effective. No treatment can reduce the number of tissue mast cells. […] In patients with an aggressive form of mastocytosis, characterized by increasing mast cell accumulation in different organs, leading to dysfunction, the multikinase inhibitors midostaurin or avapritinib can be used to help control end-organ damage, cytopenias, and mast cell accumulation in bone marrow.

• #16 Systemic Mastocytosis: Causes, Symptoms, Diagnosis, and Treatment

  https://www.webmd.com/allergies/systemic-mastocytosis

  Systemic mastocytosis is a disease where too many abnormal mast cells (a type of white blood cell) build up in your skin and other organs. […] There’s no cure, but treatments can help you manage the condition. […] Your doctor will decide your treatment plan based on your symptoms, the organ that’s affected, and the kind of systemic mastocytosis you have. The treatments may include: […] Antihistamines. These drugs may relieve skin reactions, such as flushing and itching, and digestive system symptoms. […] Epinephrine. This hormone treats anaphylaxis. […] Proton pump inhibitors. These medicines curb stomach acid, which may ease some of the digestion problems you may get. […] Mast cell stabilizers. These drugs, such as cromolyn sodium and ketotifen, block mast cells from releasing histamines.

• #17 Mastocytosis: Types, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/5908-mastocytosis

  Most people can manage mastocytosis symptoms with medication and by avoiding activities and environments that trigger the condition. […] Healthcare providers cant cure mastocytosis, but they can treat its symptoms and the complications the condition causes. […] Treatment varies based on mastocytosis type and your symptoms. In general, providers use medications and other treatments to ease symptoms. […] Medications for mastocytosis may include: Antacids (H2 blockers) for stomach issues, Antihistamines, to relieve itching, flushing and other skin reactions, Bisphosphonates for osteoporosis, Corticosteroids, to reduce inflammation, Monoclonal antibodies, specifically omalizumab (Xolair), Pain medication. […] Providers may use the following treatments: Ultraviolet (UV) light, to make darkened skin lesions less noticeable, Targeted therapy, Epinephrine to treat anaphylaxis, Chemotherapy, should mastocytosis become cancer. This rarely happens, Allogeneic stem cell (bone marrow) transplantation to treat advanced or aggressive mastocytosis. Very few people with mastocytosis may benefit from this treatment.

• #18 Treatment of Indolent and Advanced Systemic Mastocytosis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9084172/

  A cytoreductive treatment is not recommended for ISM and SSM unless anti-mediator therapy has failed. […] Until now, there is no curative option for patients with AdvSM. The available therapeutic options include tyrosine-kinase inhibitors, interferon, and cladribine, with variable duration and extent of response. Allogeneic stem cell transplantation is usually performed in younger selected patients. […] Omalizumab, an anti-IgE humanized monoclonal antibody, is approved to treat chronic spontaneous urticaria and extrinsic bronchial asthma when standard treatments are not effective at maximum doses. […] The largest trial included 55 patients with a mast cell disorder that received Omalizumab. The diagnoses were ISM (29 patients), MC activation syndrome (MCAS), and Cutaneous Mastocytosis (CM). A KIT D816V mutation was found in 27 of 49 patients (particularly those with ISM). The recommended starting dose was 150 mg subcutaneously every two weeks. Omalizumab response was rapid, with a median time to first response of 2 months and the best response after six months. It was effective on all vasomotor symptoms, including those secondary to anaphylaxis, and gastrointestinal and urinary symptoms, with a good safety profile.

• #19 Systemic Mastocytosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544345/

  Appropriate daily intake of calcium and vitamin D should be maintained. For patients with osteoporosis-related fractures, treatment with the combination of pamidronate and low-dose interferon-alfa has been reported to be helpful. […] In patients who are unresponsive to anti-mediator therapies and omalizumab, low-dose maintenance glucocorticoids or cytoreductive measures (such as interferon-alfa, cladribine, or a tyrosine kinase inhibitor [TKI] depending on KIT mutational status) can be considered as second-line approaches. […] Treatment with cytoreductive therapy is also appropriate for select patients with ISM or smoldering systemic mastocytosis (SSM) who suffer from recurrent anaphylaxis that remains uncontrolled with anti-mediator treatments, although this is only appropriate when all other options have been exhausted.

• #20 Systemic Mastocytosis Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/203948-treatment

  Corticosteroids have been used to control malabsorption, ascites, abdominal pain refractory to cromolyn, bone pain, and diffuse cutaneous disease refractory to topical therapy, and to prevent anaphylaxis. […] Medical therapy for systemic mastocytosis is generally considered as initial treatment for patients with advanced systemic mastocytosis (aggressive systemic mastocytosis, systemic mastocytosis with an associated hematological neoplasm, mast cell leukemia), as bridging treatment to undergo allogenic hematopoietic cell transplantation, or in selected patients with indolent systemic mastocytosis or smoldering systemic mastocytosis who suffer recurrent anaphylaxis despite treatment with all other options. […] Various chemotherapy regimens have been used in the treatment of advanced systemic mastocytosis. Chemotherapy has not been particularly successful in the management of this disease.

• #21 Systemic Mastocytosis: Causes, Symptoms, Diagnosis, and Treatment

  https://www.webmd.com/allergies/systemic-mastocytosis

  Steroids. They may help with skin, nasal, and respiratory symptoms and can be part of your treatment if you get anaphylaxis. […] Targeted therapy. These drugs target a specific gene, protein, or tissue involved in the disease. For systemic mastocytosis, your doctor may suggest a tyrosine kinase inhibitor to block a specific protein. You may need this kind of treatment if you have serious or life-threatening symptoms. Monoclonal antibody therapy can help manage symptoms once mast cells are activated. […] Chemotherapy. You may need this treatment if your systemic mastocytosis is fast-moving and you have significant damage to your organs. You take these drugs through an IV or by mouth. They kill cancer cells throughout your body. […] Stem cell transplant or bone marrow transplant. In rare cases, your doctor may consider this treatment. During this surgery, your bone marrow cells are replaced with healthy bone marrow or stem cells.

• #22

  https://www.nhs.uk/conditions/mastocytosis/treatment/

  The treatment options for mastocytosis depend on which type you have and how severe your symptoms are. […] Nearly all medicines used to treat mastocytosis are unlicensed. This means the manufacturers haven’t applied for a licence for their medicine to be used to treat mastocytosis. […] Many experts will use an unlicensed medicine if they think it will be effective and the benefits of treatment outweigh any associated risk. […] Mild to moderate cases of cutaneous mastocytosis can be treated with a very strong steroid cream (topical corticosteroids) for a limited length of time. […] Antihistamines can also be used to treat symptoms of cutaneous or indolent mastocytosis, such as itchiness and skin redness. […] Sodium cromoglicate is a mast cell stabiliser, which means it reduces the amount of chemicals released by the mast cells. This helps relieve symptoms such as diarrhoea and stomach pain.

• #23

  https://www.nhs.uk/conditions/mastocytosis/

  There’s no cure for mastocytosis, so the aim of treatment is to try to relieve the symptoms. […] Treatment options will depend on the type of mastocytosis and the severity of the symptoms. […] Mild to moderate cases of cutaneous mastocytosis can be treated with steroid cream (topical corticosteroids) for a short time. […] Steroid cream reduces the number of mast cells that can release histamine and trigger swelling (inflammation) in the skin. […] Antihistamines can also be used to treat the symptoms of cutaneous or indolent mastocytosis, such as red skin and itchiness. […] Antihistamines are a type of medicine that block the effects of histamine and are often used to treat allergic conditions.

• #24

  https://www.nhs.uk/conditions/mastocytosis/treatment/

  More severe symptoms of cutaneous mastocytosis, such as severe itchy skin, may require a type of treatment called psoralen plus ultraviolet A (PUVA). […] If symptoms such as itchiness are particularly severe, corticosteroid tablets (oral corticosteroids) may be prescribed on a short-term basis. […] If you have weakened bones (osteoporosis) resulting from abnormal mast cell activity in your bones, you’ll be given a medicine called bisphosphonates. […] Originally designed to treat cancer, interferon alpha has proved effective in treating some cases of aggressive mastocytosis. […] Imatinib is an alternative medicine to interferon alpha. […] Nilotinib or dasatinib may be recommended if you do not respond to treatment with imatinib. […] Midostaurin is a licensed medicine that can be used to treat advanced systemic mastocytosis.

• #25 Treatment – The Australasian Mastocytosis Society

  https://mastocytosis.org.au/mast-cells-explained/treatment/

  Steroids (topical): Topical corticosteroids may be used for the treatment of cutaneous disease and may be used to reduce the size of skin lesions. […] Other therapies: Including Ultraviolet light (UV) for cutaneous symptoms, Aspirin therapy (physician-directed) for flushing, brain fog and bone pain influenced by elevated prostaglandins, corticosteroids (oral), and Interferon and Chemotherapy (typically for advanced disease), and others on a case-by-case basis. […] Targeted therapy is a treatment that targets the disease’s specific genes, proteins or the tissue environment unique to mastocytosis that contribute to its growth and survival. This type of treatment blocks the growth of mast cells while limiting damage to healthy cells. […] Tyrosine Kinase Inhibitors (TKIs) are a type of targeted therapy. For mastocytosis, the target is the unique protein called the c-kit tyrosine kinase receptor. Treatment with TKIs, including dasatinib, midostaurin (recently approved by the U.S. Food and Drug Administration for the treatment of Systemic Mastocytosis), and less commonly imatinib and nilotinib, may be considered for patients with mast cells that have a mutation in the c-kit tyrosine kinase receptor.

• #26 Cutaneous and Systemic Manifestations of Mastocytosis | AAFP

  https://www.aafp.org/pubs/afp/issues/1999/0601/p3047.html

  Aspirin has been used to treat the flushing that is associated with elevated prostaglandin levels during attacks. Caution is required, however, because of the potential for aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) to cause degranulation. Treatment with aspirin is reserved for use in patients with vascular collapse that is not prevented by H1 and H2 blocker prophylaxis. […] PUVA therapy may provide cosmetic skin changes and temporary relief from symptoms. High-potency topical or intralesional injection of corticosteroids affords only transient improvement. Topical or intralesional corticosteroid therapy is, however, useful in the treatment of solitary mastocytoma. Systemic steroids may be necessary to control the severe skin disease, malabsorption or ascites of systemic mastocytosis.

• #27 Systemic Mastocytosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544345/

  Management of aggressive forms of systemic mastocytosis is with cladribine, midostaurin, interferon-alpha, or TKI inhibitors (imatinib) based on mutation status along with bone marrow transplant. […] Treatment of advanced systemic mastocytosis is indicated to mitigate organ dysfunction and improve the quality of life. […] There is no standard treatment to treat mast cell leukemia. It has a poor prognosis overall.

• #28 Systemic Mastocytosis Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/203948-treatment

  Tyrosine kinase inhibitors (TKIs) have shown benefit in treatment of systemic mastocytosis. In 2017, the FDA approved midostaurin (Rydapt), which inhibits multiple receptor tyrosine kinases, for aggressive systemic mastocytosis (ASM), systemic mastocytosis with associated hematologic neoplasm (SM-AHN), or mast cell leukemia (MCL), collectively referred to as advanced systemic mastocytosis. […] In 2021, the FDA approved avapritinib (Ayvakit) for treatment of adult patients with advanced systemic mastocytosis (AdvSM). […] In May 2023, the FDA extended approval of avapritinib to treatment of adults with indolent systemic mastocytosis. […] The TKI imatinib mesylate (Gleevec) may be useful in those types of systemic mastocytosis that do not have mutations of the codon 816 on the c-kit gene and carry the wild-type kit. […] Allogeneic hematopoietic cell transplantation is the only treatment that has the proven ability to cure advanced systemic mastocytosis but is considered experimental and is being pursued in clinical trials at the US National Institutes of Health (NIH).

• #29 Recent Advances in the Therapeutic Management of Advanced Systemic Mastocytosis

  https://www.mdpi.com/2075-4418/14/1/80

  There is a range of available anti-mediator therapies (e.g., H1 and H2 antihistamines, proton pump inhibitors, leukotriene receptor inhibitors, cromolyn and corticosteroids) aimed at reducing the symptoms caused by MC mediator release, and this is well documented. […] The availability and clinical impact of tyrosine kinase inhibitors (TKIs) as targeted treatments have revolutionised the management of patients with AdvSM over the last decade. […] Interferon alpha (IFN-α) has shown mixed results in a small number of retrospective studies, as well as a lack of durable responses. […] Cladribine (2-chlorodeoxyadenosine [2-CdA]) can be used for fast disease debulking prior to initiating targeted TKI treatment or if a patient does not meet the eligibility criteria for TKI use. […] The aims of KIT inhibitors are as follows: Limit and/or reverse MC-related organopathy; Target both the SM and the AMH clone, in cases of multilineage involvement by KIT D816V.

• #30 KIT Inhibitors Lead to Shift in Treatment of Systemic Mastocytosis

  https://www.onclive.com/view/kit-inhibitors-lead-to-shift-in-treatment-of-systemic-mastocytosis

  KIT inhibitors have helped alter the treatment paradigm for patients with SM. […] The options have been limited to trigger avoidance, supportive care using drugs such as proton pump inhibitors, H1 and H2 blockers, leukotriene antagonists and mast cell stabilizers, and use of epinephrine pens for management of anaphylaxis. […] The findings led to a major shift in treatment approach from cladribine/interferon to KIT inhibition and formed the basis of regulatory approval of the drug. […] Improved outcomes and a better adverse event profile compared with midostaurin have led to avapritinib being preferred in patients with advanced SM. […] The arrival of potent C-KIT inhibitors has ushered in a new area in the management of SM. Patients with advanced SM now have a targeted therapy available that provides more frequent and deeper remissions.

• #31 Management of Advanced Systemic Mastocytosis: Clinical Challenges | JBM

  https://www.dovepress.com/management-of-advanced-systemic-mastocytosis-clinical-challenges-peer-reviewed-fulltext-article-JBM

  Advanced systemic mastocytosis (AdvSM) is a rare hematologic malignancy with organ damage and compromised life expectancy arising from organ accumulation of neoplastic mast cells. […] While the advent of these therapies has improved the quality and quantity of life in patients with AdvSM, current challenges remain in the management of this disease. […] In this review, we summarize the present and future therapeutics landscape of AdvSM, highlighting the development of novel KIT inhibitors including elenestinib and bezuclastinib. […] We also explore the continued role of additional treatment modalities including allogeneic stem cell transplantation before discussing unresolved clinical challenges in the management of AdvSM. […] Midostaurin is a multi-kinase inhibitor with activity against both wildtype and D816V mutated KIT that was approved for the treatment of AdvSM by the FDA in 2017. […] This agent has been evaluated in an open-label Phase 2 study, which included 116 AdvSM patients, of which 89 were included in the primary efficacy analysis (16 ASM, 57 SM-AHN, and 16 MCL) who were treated with midostaurin at a dose of 100mg twice daily. […] The primary endpoint of overall response was 60% by modified Valent and Cheson criteria. […] However, a post-hoc analysis using the IWG-MRT-ECNM consensus criteria identified the overall response rate (ORR) to be 28% when including clinical improvement (CI) as a response. […] Responses were durable with a median duration of 24.1 months and there were significant reductions in MC burden in the bone marrow as well as serum tryptase levels. […] Importantly, there was also reversal of organ damage as evidenced by normalization of hypoalbuminemia in 58% of patients, and achievement of red blood cell and platelet transfusion independence in 40% and 100% of dependent patients, respectively.

• #32 Untangling Systemic Mastocytosis: An Update on Challenges in the Diagnosis and Treatment of Myeloid Neoplasms with Systemic Mastocytosis – European Medical Journal

  https://www.emjreviews.com/hematology/symposium/untangling-systemic-mastocytosis-an-update-on-challenges-in-the-diagnosis-and-treatment-of-myeloid-neoplasms-with-systemic-mastocytosisj060122/

  An analysis of registry data found that cladribine treatment in patients with advanced SM was associated with a median overall survival of 1.9 years at first-line (n=48) and 1.2 years at second-line (n=31), and risk stratification made little difference to these outcomes. […] In contrast, an open-label clinical trial found that midostaurin treatment of patients (N=116) with advanced SM was associated with a median overall survival of 2.4 years (28.7 months) and a median progression-free survival of 1.2 years (14.1 months). […] Based on these data, midostaurin was approved in 2017 as a first tyrosine kinase inhibitor for the treatment of patients with advanced SM. […] In 2022, a second tyrosine kinase inhibitor, avapritinib, was approved for treatment of patients with advanced SM after at least one systemic therapy.

• #33 Management of Advanced Systemic Mastocytosis: Clinical Challenges | JBM

  https://www.dovepress.com/management-of-advanced-systemic-mastocytosis-clinical-challenges-peer-reviewed-fulltext-article-JBM

  Avapritinib is a highly selective type 1 inhibitor of KITD816V with higher potency as compared with midostaurin (IC50 0.27 versus 2.9) with negligible activity against wildtype KIT. […] Avapritinib was evaluated in AdvSM patients in the phase 1 EXPLORER study which enrolled 86 AdvSM patients. […] Among 69 evaluable patients, the ORR by IWG criteria was 75% (with breakdown by subtype shown in Table 3). […] Importantly, 36% of patients experience a CR or CR with partial hematologic recovery (CRh) and 30% of patients experience of molecular CR. […] During a median follow-up of 23 months, 14 patients (20%) experienced disease progression, including 6 patients (9%) who developed acute myeloid leukemia (AML). […] Avapritinib is currently the standard therapy for newly diagnosed or previously treated AdvSM patients. […] Caution should be taken in patients with baseline thrombocytopenia, particularly those who have SM-AHN.

• #34 Efficacy of avapritinib versus best available therapy in the treatment of advanced systemic mastocytosis | Leukemia

  https://www.nature.com/articles/s41375-022-01615-z

  Treatment options for patients with AdvSM include the multikinase KIT inhibitor midostaurin, for which efficacy and safety has been reported in several clinical trials and observational studies. In addition, imatinib is a treatment option for the limited indication of ASM patients who are KIT D816V-negative or with unknown KIT mutation status. Commonly used off-label cytoreductive therapies include cladribine and interferon alfa. For treatment-resistant patients and those with rapidly progressive disease after tyrosine kinase inhibitor (TKI) treatment, multiagent chemotherapy and subsequent allogenic hematopoietic stem cell transplantation (HSCT) are considerations. Indeed, HSCT is the only established curative treatment option for these patients. […] Avapritinib, a highly selective and potent inhibitor of D816V-mutated KIT, was evaluated in adults with centrally confirmed AdvSM in two multi-center, single-arm, open-label clinical trials, the Phase I EXPLORER trial (ClinicalTrials.gov Identifier: NCT02561988) and Phase II PATHFINDER trial (NCT03580655). Analysis of data from 69 patients with AdvSM in EXPLORER reported an estimated 24-month OS rate of 76% (95% confidence interval (CI), 6487%) and that 99% of patients achieved 50% reduction from baseline in serum tryptase (a common marker of mast cell activation). Similarly, in a pre-specified interim analysis of 62 patients who received avapritinib primarily at a starting dose of 200mg daily from PATHFINDER, the estimated 12-month OS rate was 86% and 93% of patients achieved 50% reduction from baseline in serum tryptase.

• #35 FDA Approves New Treatment for Rare Blood Disorder | Leukemia and Lymphoma Society

  https://www.lls.org/news/fda-approves-new-treatment-rare-blood-disorder

  The U.S. Food and Drug Administration (FDA) recently approved avapritinib (Ayvakit) to treat adults with indolent systemic mastocytosis. […] The development of avapritinib, a treatment that targets the KIT gene, can be traced back to the tireless work and investments LLS made in imatinib, a related and groundbreaking targeted treatment known as Gleevec, said Lee Greenberger, PhD, Chief Scientific Officer of LLS. […] It is wonderful to see LLS research investments continue to pay off, this time bringing the first-ever disease-modifying treatment to patients with indolent systemic mastocytosis. […] The FDA based its decision to approve this new use of avapritinib, which was previously approved for an advanced form of the disease, on study results that showed this treatment plus supportive care is effective in improving disease symptoms.

• #36 Advanced Systemic Mastocytosis: Expert Insight into Epidemiology, Diagnosis, and Treatment

  https://www.onclive.com/view/advanced-systemic-mastocytosis-expert-insight-into-epidemiology-diagnosis-and-treatment

  Treatment options for advanced SM are limited, which likely reflects the diagnostic challenges and lack of clinical biomarkers. Historically, clinicians have relied on chemotherapy and stem cell transplants to treat aggressive SM, but targeted options are available, and others are in development. […] Midostaurin is an oral multikinase inhibitor that inhibits D816V-mutated KIT. It is FDA approved for the treatment of patients with advanced SM. In a 10-year follow-up study from a phase 2 trial evaluating patients with organ damage who received 100 mg of midostaurin given twice daily, the overall response rate (ORR) was 69%, and median OS was 40 months. Additionally, 2 of 26 patients achieved complete remission (CR) with ongoing therapy. […] For patients with aggressive SM who do not have the D816V c-KIT mutation or whose mutational status is unknown, imatinib is an FDA-approved treatment option.

• #37 Quest to find better treatments for rare blood cancer leads to new therapies | News Center

  https://med.stanford.edu/news/all-news/2022/03/systemic-mastocytosis-therapies.html

  Hematologist Jason Gotlib wanted more effective treatments for patients with systemic mastocytosis. His research has led to the approval of two new treatments by the Food and Drug Administration. […] „At that time, there was no FDA-approved treatment for patients with Sally’s form of the disease,” Worthen’s husband, Bill, a medical products specialist, recalled, using an abbreviation for the Food and Drug Administration. The only treatment was chemotherapy, which they were reluctant to pursue while Sally Worthen was feeling well. Instead, the couple devoted themselves to researching other options. […] Although a medication called imatinib, which is sold under the brand name Gleevec, has been approved for use in advanced SM, it is ineffective against the D816V mutation (although it may be useful in the rare SM patients who have normal KIT or other mutations in the gene).

• #38 Bezuclastinib was safe and rapidly lowered markers of disease burden for patients with nonadvanced systemic mastocytosis in Phase II trial | MD Anderson Cancer Center

  https://www.mdanderson.org/newsroom/ash–targeted-oral-therapy-reduced-disease-burden-improved-symptoms-patients-rare-blood-disorder.h00-159624168.html

  Bezuclastinib was safe and rapidly lowered markers of disease burden for patients with nonadvanced systemic mastocytosis in Phase II trial. The targeted therapy bezuclastinib was safe and rapidly reduced markers of disease burden while also improving symptoms for patients with a rare blood disorder called nonadvanced system mastocytosis, according to results of the Phase II SUMMIT trial reported by researchers at The University of Texas MD Anderson Cancer Center. The findings, presented today at the 2023 American Society of Hematology (ASH) Annual Meeting, demonstrate that all participants treated with bezuclastinib achieved at least a 50% reduction in markers of disease burden and 63% reported their disease symptoms eased within 12 weeks. That number increased to 78% after an additional eight weeks of treatment, at which time all patients also reported an improvement in pain symptoms. Bezuclastinib provides precision targeting without the typical central nervous system or bleeding side effects often associated with similar drugs. This drug may offer great promise in the treatment of non-advanced systemic mastocytosis. To further assess the drugs efficacy in patients with NonAdvSM, next steps for the SUMMIT trial include comparing bezuclastinib against placebo once the optimal dose is known with certainty. Part Ib of the trial will investigate 100mg and 150 mg daily doses that use a different formulation of the drug, and those results are expected in 2024.

• #39 What are treatments for Systemic Mastocytosis? – HealthTree for Systemic Mastocytosis

  https://healthtree.org/mastocytosis/community/what-are-treatments-for-systemic-mastocytosis

  Chemotherapy can reduce the number of mast cells in the body, helping to control symptoms and prevent complications. These drugs work by interfering with the growth of mast cells, thereby reducing their numbers. One chemotherapy drug commonly used is Cladribine (Leustatin). […] Indolent systemic mastocytosis or smoldering systemic mastocytosis: The goal of treatment is to reduce the chances of full-body allergic reactions. However, if the disease doesn’t respond to common mediators like antihistamines, mast cell stabilizers, or other first-line drugs, the next step is to reduce mast cell numbers. […] Aggressive systemic mastocytosis: Treatment is indicated to reduce the possibility of organ damage and improve the quality of life. For those patients eligible for stem cell transplant, the goal is to control symptoms and prevent progression until a donor can be found. The management of aggressive forms of systemic mastocytosis is with cladribine, midostaurin, interferon-alpha, or TKI inhibitors (imatinib) based on cytogenetics. along with a bone marrow transplant can also be an option. […] Systemic mastocytosis with associated hematologic neoplasm: Treatment in this subtype focuses on the associated bone marrow or blood disorder. After initial therapy, a stem cell transplant should be considered for maintenance. […] Mast cell leukemia: Although there is no standard treatment for mast cell leukemia, clinical trial participation is imperative for these patients. […] Cladribine is a purine analog that shows activity across all subtypes of systemic mastocytosis. The National Comprehensive Cancer Network (NCCN) recommends cladribine for patients with systemic mastocytosis associated with blood or bone marrow cancer needing rapid mast cell reduction. It’s an effective treatment after other therapies like interferon-alpha or midostaurin.

• #40 Cladribine as First-Line Therapy for Indolent and Advanced Systemic Mastocytosis | Value-Based Cancer Care

  https://www.valuebasedcancer.com/conference-correspondent/ash-2021-systemic-mastocytosis-wrap-up/cladribine-as-first-line-therapy-for-indolent-and-advanced-systemic-mastocytosis

  Current treatment options for SM include midostaurin, avapritinib, and cladribine. These therapies typically attempt to reduce symptoms and slow disease progression. […] Cladribine is a chemotherapy drug that has been used to safely and effectively treat SM since 2001. […] Taken together, the study provides additional support of cladribine as an effective first-line therapeutic option for ISM and AdvSM with minimal side effects.

• #41 Mastocytosis and Mast Cell Activation Syndrome – Immunology; Allergic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/immunology-allergic-disorders/allergic-autoimmune-and-other-hypersensitivity-disorders/mastocytosis-and-mast-cell-activation-syndrome

  Interferon alfa-2b induces regression of bone lesions. Corticosteroids may be required as adjunctive treatment for severe cases. […] Treatment is directed at preventing mediator release (eg, with cromolyn and/or ketotifen) and blocking mediator effects with some regimen of H1 and H2 blockers to block histamine, aspirin to block prostaglandins and montelukast to block leukotrienes.

• #42 What are treatments for Systemic Mastocytosis? – HealthTree for Systemic Mastocytosis

  https://healthtree.org/mastocytosis/community/what-are-treatments-for-systemic-mastocytosis

  Ripretinib is a type II switch control kinase inhibitor that has shown anti-tumor activity. A phase II study is ongoing to evaluate its effectiveness in advanced systemic mastocytosis. […] Interferon-alfa may benefit patients with smoldering systemic mastocytosis or slowly progressing aggressive systemic mastocytosis. However, it is still being studied and is not recommended for patients with indolent disease due to inconsistent response rates. […] Thalidomide has been studied in advanced systemic mastocytosis, though detailed outcomes and indications are less clear. […] Ruxolitinib is a JAK inhibitor, and has shown improvements in symptom burden and spleen size, helping improve patients quality of life.

• #43 Management of Advanced Systemic Mastocytosis: Clinical Challenges | JBM

  https://www.dovepress.com/management-of-advanced-systemic-mastocytosis-clinical-challenges-peer-reviewed-fulltext-article-JBM

  Allogeneic stem cell transplantation (ASCT) is a potentially curative option in patients with AdvSM, although experience to date has largely been reported in SM-AHN. […] Consensus opinion on the role of ASCT in AdvSM recommends for MC debulking with the use of a KIT inhibitor or chemotherapy before proceeding to ASCT, particularly in the setting of MCL. […] The development of TKIs has revolutionized treatment for AdvSM. […] Selective KIT inhibitors such as avapritinib represent the standard of care.

• #44 Advanced Systemic Mastocytosis Treatment: Medications, Stem Cell Transplants, and More

  https://www.everydayhealth.com/rare-diseases/advanced-systemic-mastocytosis-treatment/

  Treatment for advanced systemic mastocytosis depends on the subtype as well as the specific symptoms and disease progression of each person. […] In advanced forms of systemic mastocytosis, such as aggressive systemic mastocytosis (ASM) and mast cell leukemia (MCL), drugs known as tyrosine kinase inhibitors (TKIs) may be prescribed. […] The drug cladribine, which belongs to a group of chemotherapy medicines called antimetabolites, is a commonly used option. […] In people with aggressive systemic mastocytosis or mast cell leukemia, chemotherapy may be necessary. […] Depending on a person’s age and how they’ve responded to treatments, stem cell transplantation may be an option. […] The procedure is the only cure for people with advanced systemic mastocytosis, and it’s usually only performed in selected younger patients.

• #45 Advanced Systemic Mastocytosis: Treatment and Forms of the Condition

  https://www.healthline.com/health/advanced-systemic-mastocytosis-faqs

  For some people with advanced systemic mastocytosis, midostaurin can help as well. […] A bone marrow transplant may also help slow the progression of disease. […] According to the results of a 2014 study in 57 people with advanced systemic mastocytosis, 70 percent had an improvement in the symptoms of their condition after bone marrow transplant. […] Though theres no cure for systemic mastocytosis, treatment can help manage the symptoms. […] For people with aggressive forms of the disease, cladribine, midostaurin, and bone marrow transplants can all help slow the progression of the disease.

• #46 Treatment – The Australasian Mastocytosis Society

  https://mastocytosis.org.au/mast-cells-explained/treatment/

  A stem cell transplant is a medical procedure in which unhealthy bone marrow is replaced by highly specialised cells, called hematopoietic stem cells, that develop into healthy bone marrow. […] Stem cell transplantation is not used frequently as a treatment for mastocytosis because treatment results are inconsistent and there are significant risks associated with this treatment approach. […] Chemotherapy is sometimes recommended if mastocytosis becomes cancerous. Chemotherapy is the use of drugs to destroy cancer cells, usually by ending the cancer cells’ ability to grow and divide. […] Mastocytosis treatment often causes side effects. In addition to treatment to manage the condition, an important part of treatment is relieving these side effects. This approach is called palliative or supportive care, and it includes supporting the patient with his or her physical, emotional, and social needs. […] Palliative care is any treatment that focuses on reducing symptoms (see section above) and treatment side effects, improving quality of life, and supporting patients and their families.

• #47 Indolent Systemic Mastocytosis (ISM) Treatment Options

  https://www.verywellhealth.com/indolent-systemic-mastocytosis-treatment-8671770

  Indolent systemic mastocytosis is a usually benign (noncancerous) form of mastocytosis, a genetic blood cancer caused by abnormal mast cells. […] Treatment for this form of the disease aims to identify and avoid symptom triggers. […] Treatment mostly includes self-management and certain drugs. […] The timing and type of treatment you receive for indolent systemic mastocytosis can vary by individual since the disease affects everyone differently. […] However, it can be highly symptomatic. […] Symptoms that interfere with physical and or emotional well-being warrant treatment. […] Even if symptoms are minor and medical treatment is not needed, guidelines from the National Comprehensive Cancer Network (NCCN) advise that people with indolent systemic mastocytosis should receive counseling about the signs and symptoms of mast cell activation and the importance of avoiding known triggers of mast cell activation that can activate symptoms.

• #48 Systemic Mastocytosis – TMS – The Mast Cell Disease Society, IncAccessibilityIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://tmsforacure.org/overview/systemic-mastocytosis/

  The majority of adult patients fit into this category, fulfilling the criteria for indolent systemic mastocytosis (ISM). Treatment usually includes mediator-targeting drugs, including antihistamines, but does not usually require cytoreductive agents, although there are exceptions. […] Imatinib mesylate has been used in some patients with severe cases of WDSM, since these patients do not usually carry the KIT D816V mutation, which causes resistance to imatinib. […] Patients are treated for both the SM component and for the associated hematologic neoplasm. […] Patients with ASM often require chemotherapy. […] Prognosis can be variable based on the form of disease; life expectancy has been extended, in some cases, due to advances in cytoreductive therapy.

• #49 First drug approved for the treatment of indolent systemic mastocytosis: Institut für Allergieforschung – Charité – Universitätsmedizin Berlin

  https://ifa.charite.de/en/metas/news/artikel/detail/first_drug_approved_for_the_treatment_of_indolent_systemic_mastocytosis

  Patients with indolent systemic mastocytosis can breathe a sigh of relief. Thanks to a recent clinical trial, a drug for the treatment of the disease is now available for the first time to patients in the USA and soon also in Germany. […] Since the end of May, there is now for the first time in the USA and soon also in Germany an approved drug that treats the primary trigger of the disease and provides comprehensive and lasting symptom relief. The approval is based on the positive results of a recent multicenter study in which the active ingredient avapritinib achieved significant improvements in disease symptoms and mast cell burden when administered once daily. […] „with this new treatment it will be possible in the future to improve the quality of life of severely affected patients.”

• #50 Treating Indolent Systemic Mastocytosis | AYVAKIT® (avapritinib)

  https://ayvakit.com/indolent-systemic-mastocytosis/

  AYVAKIT (avapritinib) is the only FDA-approved, once-daily tablet that targets the source of ISM. […] AYVAKIT targets the underlying cause. […] Learn how AYVAKIT targets the source of ISM, when other therapies are not enough. […] AYVAKIT (avapritinib) is a prescription medicine used to treat adults with indolent systemic mastocytosis (ISM). […] The most common side effects of AYVAKIT in people with ISM include: swelling around your eyes, dizziness, swelling of your arms and legs, and flushing. […] Your healthcare provider may change your dose, temporarily stop, or permanently stop treatment with AYVAKIT if you develop certain side effects. AYVAKIT may cause fertility problems in females and males. Talk to your healthcare provider if this is a concern for you.

• #51 Untangling Systemic Mastocytosis: An Update on Challenges in the Diagnosis and Treatment of Myeloid Neoplasms with Systemic Mastocytosis – European Medical Journal

  https://www.emjreviews.com/hematology/symposium/untangling-systemic-mastocytosis-an-update-on-challenges-in-the-diagnosis-and-treatment-of-myeloid-neoplasms-with-systemic-mastocytosisj060122/

  The remaining challenges and questions that need to be addressed for optimal treatment of SM-AHN were summarised by Radia as: what are the best approaches to risk stratification for individual patients; should we routinely use mutational profiles to guide treatment and monitor responses in all patients with SM; how and when should combination or sequential treatment be offered; and what is the place of alloHCT as a curative option?

• #52 Systemic mastocytosis – Care at Mayo Clinic – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/systemic-mastocytosis/care-at-mayo-clinic/mac-20352862

  Mayo Clinic doctors have access to the latest tests and technology to diagnose systemic mastocytosis. […] Mayo doctors trained in many areas work together to evaluate your condition and determine the most appropriate treatment in a caring environment. […] Scientists at Mayo Clinic are investigating new treatments for systemic mastocytosis. […] At Mayo Clinic, doctors manage systemic mastocytosis by regularly monitoring your condition, then tailoring a treatment plan to help you manage your specific symptoms. […] Mayo Clinic is one of the only centers to offer a special home kit that you can use to collect blood and urine samples while you’re experiencing symptoms, which gives your doctor a better picture of how systemic mastocytosis affects your body. […] Systemic mastocytosis is a rare condition. Mayo Clinic doctors have experience diagnosing and caring for people with all types of systemic mastocytosis.

• #53 Efficacy of avapritinib versus best available therapy in the treatment of advanced systemic mastocytosis | Leukemia

  https://www.nature.com/articles/s41375-022-01615-z

  After adjusting for differences in key prognostic factors and confounders between the two treatment cohorts, avapritinib was associated with significantly improved survival compared with BAT (HR (95% CI): 0.48 (0.29, 0.79); p=0.004). In subgroup analyses, all subgroups of patients in the avapritinib cohort experienced a reduced risk of death compared to patients in the BAT cohort, with most comparisons statistically significant. Specifically, patients treated in 2L+with avapritinib at a dose of 200mg had decreased risk of death by 66% compared to BAT. The small sample size of certain subgroups may have contributed to statistically non-significant findings. Avapritinib also offered significantly greater reduction in mast cell burden relative to BAT, with median maximum percentage reduction in serum tryptase levels of 93% compared with 37% for BAT. The results of this study, which collected patient-level data allowing for rigorous statistical analysis, further reinforce recent findings from an indirect treatment comparison of avapritinib vs. midostaurin, which compared aggregate-level data from the clinical trials and reported an adjusted HR for OS of 0.44 (95% CI: 0.250.76).

• #54 Advanced Systemic Mastocytosis: Expert Insight into Epidemiology, Diagnosis, and Treatment

  https://www.onclive.com/view/advanced-systemic-mastocytosis-expert-insight-into-epidemiology-diagnosis-and-treatment

  In June 2020, the FDA approved avapritinib for the treatment of adult patients with advanced SM, including those with aggressive SM, SM with an associated hematologic neoplasm, and MC leukemia. Avapritinib is a potent and selective KIT D816V inhibitor. […] Avapritinib therapy led to a notable reduction in BM MCs, with 88% of patients achieving a greater than 50% reduction and 60% of patients achieving elimination of marrow MC aggregates. Additionally, 93% of patients achieved a greater than 50% reduction in serum tryptase level, 60% of patients achieved a 50% or greater reduction in variant allele frequency, and 66% of patients achieved a greater than 35% reduction in spleen volume. […] One of the important features of our job is to make patients feel better. And so here, you can see this significant rapid reduction in their total symptom score. All of these symptoms improved in patients who had them, so I think that that is just an important observation. […] I hope that the same symptom score for indolent [cases] as well carries over in further trials, because that’s the most difficult thing—managing the chronic symptoms.

• #55 What are treatments for Systemic Mastocytosis? – HealthTree for Systemic Mastocytosis

  https://healthtree.org/mastocytosis/community/what-are-treatments-for-systemic-mastocytosis

  For patients with life-threatening systemic mastocytosis, allogeneic stem cell transplantation may be considered. This involves replacing the patient’s diseased bone marrow (which produces mast cells) with healthy bone marrow from a donor. This can potentially cure the disease, but it carries significant risks, including infection, graft-versus-host disease, and even death. Therefore, it is usually reserved for the most severe cases. […] Clinical trials are not just a last resort for treating systemic mastocytosis. They can actually provide access to cutting-edge treatments that are not yet approved but show promise over years of testing. The choice of a clinical trial depends on a variety of factors including the patient’s age, overall health, the subtype of the disease, and genetic changes in the leukemia cells. It’s important to discuss all treatment options, including goals and possible side effects, with your healthcare team to help make the best decision.

• #56 Mastocytosis | Cancer Support Community

  https://www.cancersupportcommunity.org/mastocytosis

  Targeted therapy uses drugs to target specific changes in cancer cells that help them grow, divide, and spread. Targeted therapy drugs are designed to be more precise. They fight cancer cells while causing less harm to other cells in the body. Targeted therapy treatments can help stop the growth of mast cells without damaging healthy immune cells. Newer targeted therapy treatments, such as tyrosine kinase inhibitors, will target the KIT gene. This will help to reduce the number of mast cells growing in the body. […] A stem cell transplant is an infusion of blood-forming cells (stem cells). It is not a surgery. The procedure has 2 parts. First, you will receive high doses of chemotherapy. This destroys blood cells. Next, stem cells are introduced into the bloodstream to replace the unhealthy blood cells. A doctor may consider a stem cell transplant to treat mastocytosis if other treatment options are not effective. […] Clinical trials are research studies to test new treatments or learn how to use existing treatments better. Be sure to ask your doctor about any clinical trials for mastocytosis that may be relevant to you.

• #57 Treatment – The Australasian Mastocytosis Society

  https://mastocytosis.org.au/mast-cells-explained/treatment/

  While Mastocytosis and MCAS share some similarities in terms of symptom management, their distinct underlying causes, such as excessive mast cell proliferation and instability in mastocytosis, lead to different treatment approaches. Consequently, not all treatments suitable for Mastocytosis are safe or appropriate for MCAS, and some management strategies used for MCAS, such as rigid dietary restrictions, are also not always necessary or safe for individuals with Mastocytosis. […] The treatment of mastocytosis depends on the type, the symptoms of the disease, its extent and the person’s overall health. In many cases, different types of doctors often work together to create a patient’s overall treatment plan that combines different types of treatments. This is called multidisciplinary care.

• #58 Systemic mastocytosis – Overview of Information and Clinical Research

  https://clinicaltrials.eu/disease/systemic-mastocytosis/

  For aggressive forms of systemic mastocytosis, more intensive treatments may be necessary: Chemotherapy: Used to reduce the number of mast cells in aggressive systemic mastocytosis or mast cell leukemia. Stem Cell Transplant: This is considered for advanced cases, offering a potential cure by replacing diseased bone marrow with healthy cells. Targeted Therapy: Involves drugs that specifically target the KIT gene, altering mast cell growth and survival. […] Treatment plans for systemic mastocytosis are highly personalized, taking into account the specific symptoms, affected organs, and the type of mastocytosis. This tailored approach ensures that patients receive the most effective care for their unique needs. […] The treatment approach is comprehensive, involving a combination of medications, advanced therapies, and lifestyle adjustments tailored to the individual’s specific needs. Medications such as antihistamines, corticosteroids, and tyrosine kinase inhibitors play a crucial role in managing symptoms and controlling disease progression. For more aggressive forms, chemotherapy and stem cell transplants may be necessary. Personalized care plans are essential, taking into account the type of mastocytosis, affected organs, and individual symptoms. […] Clinical trials continue to explore new treatment options, offering hope for improved management and outcomes for patients with systemic mastocytosis. Regular monitoring and collaboration with healthcare providers are vital for maintaining quality of life and effectively managing the disease.

• #59 Current and Emergent Therapies for Systemic Mastocytosis

  https://www.targetedonc.com/view/current-and-emergent-therapies-for-systemic-mastocytosis

  Importantly, these gains translated to an improved quality of life using various instruments (SF-12, SF-12 mental health component score, EQ-VAS, MC-QoL). […] The arrival of potent C-KIT inhibitors has ushered in a new area in the management of SM. Patients with advanced SM now have a targeted therapy available that provides more frequent and deeper remissions.

• #60 Recent Advances in the Therapeutic Management of Advanced Systemic Mastocytosis

  https://www.mdpi.com/2075-4418/14/1/80

  Midostaurin is a multikinase inhibitor with in vitro activity against a variety of targets, including Fms-related tyrosine kinase 3 (FLT3), kinase domain KIT D816V, PDGRFα, PDGFRβ and VEGF mutations. […] Avapritinib is a type 1 multikinase inhibitor which was developed to selectively target KIT D816V and other KIT exon 17 mutations. […] Bezuclastinib is a novel, highly selective and potent KIT D816V inhibitor. […] The advent of targeted KIT inhibition has transformed the treatment landscape for patients with AdvSM. […] Avapritinib significantly improves OS and quality of life in AdvSM patients and can achieve deep molecular remission of KIT D618V mutations. […] The role of combining KIT inhibitors with AHN-directed therapy in this cohort is a question currently being addressed in clinical trials and warrants ongoing focus.

Zobacz więcej