Materiały źródłowe

• #1 Multiple Endocrine Neoplasia Type 2 and the RET gene – Sydney Cancer Genetics

  https://www.sydneycancergenetics.com.au/genes-and-syndromes/multiple-endocrine-neoplasia-type-2-and-the-ret-gene/

  Multiple Endocrine Neoplasia syndrome Type 2 is rare, affecting 1 in 30,000 people. It is caused by a mutation in the RET gene. […] MEN2B is associated with a very early onset of medullary thyroid cancer as well as physical changes. Almost all people with MEN2B are diagnosed in childhood or early adulthood. […] Without surgery to remove the thyroid, almost all individuals with MEN2B will develop a medullary thyroid cancer and almost all will die before age 20. […] Medullary thyroid cancer occurs in around 50% of individuals with MEN2A by age 30 and 90% to 100% by age 70. For MEN2B, medullary thyroid cancer can occur very young, with almost 100% affected by age 10. The risk is related to the location of the specific RET mutation. […] A pheochromocytoma is a growth occurring in the adrenal medulla, a small gland that sits above each kidney. They are very rare. Pheochromocytoma cause problems by secreting the flight or fight hormones such as adrenalin. Symptoms include flushing, headaches, very high blood pressure and a racing heart.

• #1 Multiple Endocrine Neoplasias Type 2 – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK519054/

  Multiple endocrine neoplasia type 2 (MEN2) is a hereditary cancer syndrome associated primarily with tumors of the adrenal gland, thyroid and parathyroid. […] MEN2 is further classified into two subcategories: MEN2A and MEN2B. Both types involve the thyroid and adrenal glands, but MEN2A also causes primary hyperparathyroidism (20 % to 30%). […] Medullar thyroid cancer (MTC) is the most common manifestation of MEN2A and MEN2B with 100% penetrance and usually the first manifestation in MEN2 patients. […] Pheochromocytoma, a typically benign adrenal medullary tumor (usually bilateral and multicentric), occurs in 40% to 50% of patients with MEN2A or MEN2B; the frequency and penetration highly depend on the specific type of mutation. […] Primary hyperparathyroidism is present is 10% to 25% of patients with MEN 2A, while it is not associated with MEN 2B.

• #1 Multiple endocrine neoplasia, type 2 (MEN 2) – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/men-2/symptoms-causes/syc-20540486

  People with MEN 2B have tumors of nerves in the lips, mouth, eyes and digestive tract. […] They also may have a tumor on the adrenal gland, called pheochromocytoma, and medullary thyroid cancer. […] Symptoms of MEN 2 depend on the type of tumor. […] People who have MEN 2B have a unique appearance. […] Following are symptoms that may be related to each tumor type. […] Medullary thyroid cancer: Lumps in the throat or neck, Trouble breathing or swallowing, Hoarseness, Diarrhea. […] Parathyroid hyperplasia, also known as primary hyperparathyroidism: Muscle and joint pain, Constipation, Fatigue, Memory problems, Kidney stones. […] Adrenal tumors, also known as pheochromocytoma: High blood pressure, Rapid heart rate, Anxiety, Headaches. […] Symptoms may be caused by a thyroid tumor pressing on tissues around it or by the release of too many hormones in the body. […] Some people who have medullary thyroid cancer may have no symptoms.

• #1 Multiple Endocrine Neoplasia (MEN): Types & Symptoms

  https://my.clevelandclinic.org/health/diseases/23088-multiple-endocrine-neoplasia-men

  All people with MEN type 2 will develop medullary thyroid cancer (carcinoma), known as MTC. Medullary thyroid cancer represents approximately 1% to 2% of thyroid cancers in the United States. MTC can spread (metastasize) to lymph nodes and other organs. […] The symptoms of MEN type 2 vary depending on which glands are affected and can vary widely from person to person even within members of the same family. Symptoms are usually caused by medullary thyroid cancer (MTC) and higher-than-normal hormone levels caused by certain tumors. […] Symptoms of medullary thyroid cancer include: A lump in the front of your neck. Pain in the front of your neck. Changes to your voice, such as hoarseness. Coughing. Trouble swallowing. Shortness of breath. […] Approximately 50% of people with MEN type 2 will develop a pheochromocytoma, a usually benign tumor in your adrenal gland(s). Symptoms of pheochromocytoma happen when the tumor releases too much adrenaline or noradrenaline into your blood. […] Symptoms of hyperparathyroidism include: Joint pain. Muscle weakness. Fatigue. Depression. Trouble concentrating. Loss of appetite. Nausea and vomiting. Increased thirst and frequent urination. Constipation. Bone pain.

• #1 Multiple endocrine neoplasia, type 2 (MEN 2) | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/multiple-endocrine-neoplasia-type-2-men-2

  Symptoms of MEN 2 depend on the type of tumor. People who have MEN 2B have a unique appearance. They may have bumps on the tongue, lips and eyes. They tend to be tall and thin with long arms and legs. Following are symptoms that may be related to each tumor type. […] Symptoms may be caused by a thyroid tumor pressing on tissues around it or by the release of too many hormones in the body. Some people who have medullary thyroid cancer may have no symptoms.

• #1 Multiple endocrine neoplasia type 2: An overview | Genetics in Medicine

  https://www.nature.com/articles/gim2011127

  MTC is generally the first manifestation of MEN 2A. Probands with MTC typically present with a neck mass or neck pain, usually before age 35 years. Up to 70% of such individuals already have cervical lymph node metastases. Diarrhea, the most frequent systemic manifestation, occurs in affected individuals with a plasma calcitonin concentration of more than 10 ng/mL and implies a poor prognosis. All individuals with an MTC-predisposing mutation who have not undergone prophylactic thyroidectomy demonstrate biochemical evidence of MTC by age 35 years. […] Pheochromocytomas usually present after MTC or concomitantly; however, they are the first symptom in 13-27% of individuals with pheochromocytomas and MEN 2A. Pheochromocytomas in persons with MEN 2A and MEN 2B are diagnosed at an earlier age, have subtler symptoms, and are more likely to be bilateral than sporadic tumors.

• #1 Multiple endocrine neoplasia type 2B

  https://dermnetnz.org/topics/multiple-endocrine-neoplasia-type-2b

  Individuals with MEN type 2B disease should have their thyroid gland removed at a very early age (around 1 year) to reduce the risk of thyroid cancer. Compared with other types of thyroid cancer, medullary carcinoma of the thyroid is a very aggressive cancer. If the thyroid is not removed in childhood, the average age of death in people with MEN type 2B disease is around 21 years. Once the thyroid is removed, patients must take thyroid hormone replacements (thyroxine) for the rest of their life. […] There is no known cure for any of the MEN syndromes. Patients are treated for their symptoms. Annual urine biochemical screening for phaeochromocytoma is recommended for all patients. Genetic testing is also important for people with a family history of the disease as early diagnosis and treatment will reduce the risk of thyroid cancer and death.

• #1 Multiple Endocrine Neoplasia Type 2: Causes and Symptoms

  https://www.massgeneral.org/children/multiple-endocrine-neoplasia-type-2

  Pheochromocytoma: Some of these symptoms occur intermittently: Headaches, Sweating, Pallor (pale skin) or flushing, Heart palpitations (very fast heartbeat or feeling like the heart may skip a beat), Nausea, Lower chest or upper abdominal (belly area) pain, Weakness, Anxiety, High blood pressure, Weight loss, Tremors. […] The symptoms of MEN2B vary, based on your child’s age: Infants: Constipation, Decreased muscle tone, Alacrima (an inability to produce tears). […] School-aged children: Long, thin face, Thin body, Mucosal neuromas (nodules on the lips or inside the mouth), Eyelid eversion (eyelids that look inside out), Constipation, Thyroid nodules, Scoliosis (curvature of the spine), Early-onset MTC, usually before the child turns one. All children with MEN2B develop early-onset MTC. Children with early-onset MTC also have a higher risk of developing tumors, such as ganglioneuromas (in the intestinal tract).

• #1 Multiple Endocrine Neoplasia Type 2 | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/multiple-endocrine-neoplasia-type-2

  Most patients with MTC do not have symptoms, but the thyroid tumor (nodule) is visible on a physical exam or on thyroid ultrasound. […] Patients with hyperparathyroidism may experience fatigue, weakness, confusion, increased urination, nausea, decreased appetite, constipation and abnormal heart rhythm. They may also develop bone pain and be at increased risk for kidney stones. […] Patients with pheochromocytoma may have headaches, flushing, sweating, increased and pounding heart rate (palpitation), tremors, nausea, weakness and anxiety. The headaches, palpitations and sweating are usually present at the same time and may be intermittent (occur as spells). […] Most pediatric patients are diagnosed based on a parent or family member having MEN2. About 95 percent of people with MEN2A will develop medullary thyroid cancer during their lifetime, but the risk of developing pheochromocytoma and/or hyperparathyroidism range between 10 to 50 percent and depends on the specific RET gene abnormality (codon).

• #1 Multiple Endocrine Neoplasia, Type 2A (MEN 2A) – Endocrine and Metabolic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/multiple-endocrine-neoplasia-men-syndromes/multiple-endocrine-neoplasia-type-2a-men-2a

  Most patients with multiple endocrine neoplasia, type 2A have medullary thyroid carcinoma, typically beginning in childhood. […] Other manifestations are those of hormone excess, particularly hypertension due to pheochromocytoma and hypercalcemia due to hyperparathyroidism. […] Pheochromocytoma usually originates in the adrenal glands. Pheochromocytoma occurs in 40 to 50% of people within a MEN 2A kindred. […] Hypertensive crisis secondary to pheochromocytoma is a common manifestation. Hypertension in MEN 2A patients with pheochromocytoma is more often paroxysmal than sustained, in contrast to the usual sporadic case. […] Ten to 20% of patients have evidence of hyperparathyroidism (which may be long-standing), with hypercalcemia, nephrolithiasis, nephrocalcinosis, or renal failure. […] Once medullary thyroid carcinoma has metastasized, tyrosine kinase inhibitors, including selpercatinib, cabozantinib, and vandetanib, can lengthen progression-free survival. […] Psychological distress appears to be common and chronic in patients with MEN 2.

• #1 Multiple Endocrine Neoplasia Type 2 (MEN2): Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/123447-overview

  Multiple endocrine neoplasias type 2 (MEN2) is an inherited disorder characterized by the development of medullary thyroid cancer (MTC), parathyroid tumors, and pheochromocytoma. MEN2 results from germline mutations in the RET proto-oncogene and is transmitted in an autosomal dominant fashion. There are two MEN2 syndromes: MEN2A and MEN2B. […] The MEN2A syndrome is further classified on the basis of the presence of associated conditions. Classical MEN2A is characterized by MTC, pheochromocytoma, and primary hyperparathyroidism. […] MEN2B is less common than MEN2A, accounting for 5% of MEN2 cases. It is characterized by the following: More aggressive and penetrant MTC (occurring in 100% of cases), Pheochromocytoma (50%), Mucosal neuromas (95%-98%), Intestinal ganglion neuromas (40%), Hyperparathyroidism does not occur, Nearly all patients have a distinct marfanoid habitus.

• #1 Multiple endocrine neoplasia type 2: An overview | Genetics in Medicine

  https://www.nature.com/articles/gim2011127

  Individuals with MEN 2B may be identified in infancy or early childhood by the presence of mucosal neuromas on the anterior dorsal surface of the tongue, palate, or pharynx and a distinctive facial appearance. The lips become prominent (or blubbery) over time, and submucosal nodules may be present on the vermilion border of the lips. Neuromas of the eyelids may cause thickening and eversion of the upper eyelid margins. Prominent thickened corneal nerves may be seen by slit lamp examination. […] Approximately 40% of affected individuals have diffuse ganglioneuromatosis of the gastrointestinal tract. Associated symptoms include abdominal distension, megacolon, constipation, or diarrhea. In one study of 19 individuals with MEN 2B, 84% reported gastrointestinal symptoms beginning in infancy or early childhood. […] Approximately 75% of affected individuals have a Marfanoid habitus, often with kyphoscoliosis or lordosis, joint laxity, and decreased subcutaneous fat. Proximal muscle wasting and weakness can also be seen.

• #1 Multiple Endocrine Neoplasias Type 2 – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK519054/

  Cutaneous lichen amyloidosis (CLA) also termed lichen planus amyloidosis (LPA), is a rare skin condition that is associated with MEN2A. […] Hirschsprung disease (HD), also known as chronic aganglionic megacolon, also is associated with MEN2A. […] Marfanoid habitus, kyphoscoliosis/lordosis, joint laxity, mucosal neuromas typically at lips and tongue, and intestinal ganglioneuromas are conditions exclusively associated with the MEN2B syndrome. […] MEN2A and MEN2B should be suspected in any patient diagnosed with MTC or pheochromocytoma, particularly when the age of presentation is very young (younger than 35). […] The classic symptoms of pheochromocytoma are the paroxysms of a headache, anxiety, diaphoresis and palpitations, and high blood pressure. […] The presence of these symptoms in the third decade, particularly in between 25 and 32 years, should prompt to screen for MEN2.

• #1 Gastrointestinal Manifestations of Multiple Endocrine Neoplasia Type 2

  https://pmc.ncbi.nlm.nih.gov/articles/PMC1422490/

  Ninety-three percent of patients with MEN 2B had gastrointestinal symptoms 1 to 24 years before the diagnosis of MEN 2. Symptoms included flatulence (86%), abdominal distention or being underweight as a child (64%), abdominal pain (54%), constipation or diarrhea (43%), difficulty swallowing (39%), and vomiting (14%). […] Patients with MEN 2A-HD had a typical HD presentation and always required surgery. Patients with MEN 2B have significant gastrointestinal symptoms, but less than a third had surgical intervention. Understanding the clinical course and differences in these patients will improve clinical management. […] Most patients with MEN 2B and those with MEN 2A-HD have gastrointestinal symptoms as infants, often before the development of MTC and other endocrine disorders. Many of these patients require surgery or medical treatment.

• #1 Multiple Endocrine Neoplasia Type 2 | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/multiple-endocrine-neoplasia-type-2

  Unlike MEN2A where a tumor may be the first symptom of the syndrome, MEN2B has some early warning symptoms. In infancy, for example, the most common symptoms of MEN2B are the inability to make tears (alacrima) and constipation. Decreased muscular tone, with or without congenital club feet, and failure to thrive are additional early features of MEN2B. […] All individuals with MEN2B will develop early onset MTC (often before the child is 1 year old). About half will also develop tumors of the adrenal glands (pheochromocytomas). […] In addition, individuals with MEN2B have a greater risk of developing ganglioneuromas of the intestinal tract, rare tumors made of ganglion cells, nerve fibers and supporting cells that result in constipation.

• #1 Multiple Endocrine Neoplasia (MEN) Type 2 | American Thyroid Association

  https://www.thyroid.org/multiple-endocrine-neoplasia-men-type-2/

  MEN 2 (Multiple Endocrine Neoplasia Syndrome type 2) is a group of diseases including a type of thyroid cancer called Medullary Thyroid Cancer (MTC). […] If you have MEN 2A, you may have: a form of thyroid cancer called medullary thyroid cancer (MTC). […] If you have MEN 2B, you may have: medullary thyroid cancer (MTC) at an early age, even as a child. […] Symptoms of a PHEO are due to extra amounts of adrenaline-type hormones, made by the PHEO tumor cells, and can include: racing or skipping of your heart (palpitations), high blood pressure, severe headaches, increased sweating, your skin appears paler than normal. […] Symptoms are caused by the high calcium levels in the blood. These may include irritability, kidney stones, constipation, increased urination, and osteoporosis (low bone strength) leading to broken bones. […] Symptoms of CLA are dark and itchy areas of your skin, usually on or between your shoulder blades. […] HD is present at birth. Symptoms usually show up in infants or young children and can include: constipation, abdominal pain, vomiting, failure to grow, diarrhea.

• #1 Gastrointestinal Manifestations of Multiple Endocrine Neoplasia Type 2

  https://pmc.ncbi.nlm.nih.gov/articles/PMC1422490/

  To determine the clinical features, natural history, and role of surgery for gastrointestinal manifestations of the multiple endocrine neoplasia type 2 (MEN 2) syndromes. […] The MEN 2 syndromes are characterized by medullary thyroid carcinoma and other endocrinopathies. In addition, some patients with MEN 2A develop Hirschsprungs disease (HD), and all patients with MEN 2B have intestinal neuromas and megacolon that can cause significant gastrointestinal problems. […] All patients with MEN 2A-HD were operated on for HD 2 to 63 years before being diagnosed with MEN 2. All patients responding were underweight as infants and had symptoms of abdominal pain, distention, and constipation. Eighty-eight percent had hematochezia, 63% had emesis, and 33% had intermittent diarrhea before surgery.

• #1 Gastrointestinal Manifestations of Multiple Endocrine Neoplasia Type 2

  https://pmc.ncbi.nlm.nih.gov/articles/PMC1422490/

  Patients with MEN 2A-HD had a significantly higher incidence of abdominal pain, distention, constipation, vomiting, and being underweight as infants compared with patients with MEN 2B. […] In patients with MEN 2B who develop gastrointestinal symptoms, conservative measures should be attempted initially because less than a third of patients will develop symptoms requiring surgery, and most gastrointestinal symptoms can be managed with conservative techniques on a long-term basis. […] In patients with MEN 2A, in contrast, the development of gastrointestinal symptoms, especially in infancy, warrants an investigation to rule out the diagnosis of HD, because its presence will almost certainly result in surgical interventions and a higher severity of symptoms.

• #1

  https://www.healio.com/news/endocrinology/20210308/gi-symptoms-negatively-affect-quality-of-life-in-multiple-endocrine-neoplasia-type-2

  More than half of patients with multiple endocrine neoplasia type 2, or MEN2, reported abdominal pain, diarrhea and constipation, and said gastrointestinal symptoms negatively affect their quality of life, according to survey data. […] More than 70% of MEN2A participants reported loose stools, bloating and excessive gas and flatulence, whereas more than 70% in the MEN2B group reported pain or discomfort before defecation, difficulty defecating, loose stools, abdominal cramps, bloating and excessive gas and flatulence. […] About 70% of participants in both groups reported at least moderate upper GI symptoms. […] The MEN2B cohort had more than double the prevalence of severe to very severe abdominal cramps (35% vs. 15%) and severe bloating (50% vs. 22%) compared with the MEN2A cohort. […] The quality of life portion of the survey was completed by 26 people in the MEN2A group and 21 in the MEN2B cohort. About 80% of participants in both groups reported feeling upset about their constipation; 81% of MEN2A participants and 66% of MEN2B respondents said they felt embarrassed to spend a long time in the bathroom when away from home. […] Constipation severely impaired the physical, psychological and social functioning of the patients with both MEN2 syndromes, the researchers wrote.

• #1 Multiple endocrine neoplasia type 2 – Wikipedia

  https://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_2

  MEN2 can present with a sign or symptom related to a tumor or, in the case of multiple endocrine neoplasia type 2b, with characteristic musculoskeletal and/or lip and/or gastrointestinal findings. […] Medullary thyroid carcinoma (MTC) represents the most frequent initial diagnosis. Occasionally pheochromocytoma or primary hyperparathyroidism may be the initial diagnosis. […] Pheochromocytoma occurs in 3350% of MEN2 cases. In MEN2A, primary hyperparathyroidism occurs in 1050% of cases and is usually diagnosed after the third decade of life. Rarely, it may present in childhood or be the sole clinical manifestation of this syndrome. […] MEN2A associates medullary thyroid carcinoma with pheochromocytoma in about 2050% of cases and with primary hyperparathyroidism in 520% of cases. […] MEN2B associates medullary thyroid carcinoma with pheochromocytoma in 50% of cases, with marfanoid habitus and with mucosal and digestive neurofibromatosis.

• #1 Multiple endocrine neoplasia type 2 – Wikipedia

  https://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_2

  The initial manifestation of MEN2 was medullary thyroid carcinoma in 60% of patients, medullary thyroid carcinoma synchronous with pheochromocytoma in 34% and pheochromocytoma alone in 6%. 72% had bilateral pheochromocytomas. […] MEN2A is additionally characterized by the presence of parathyroid hyperplasia. […] MEN2B is additionally characterized by the presence of mucocutaneous neuroma, gastrointestinal symptoms (e.g. constipation and flatulence), and muscular hypotonia. […] Prognosis of MEN2 is mainly related to the stage-dependant prognosis of MTC indicating the necessity of a complete thyroid surgery for index cases with MTC and the early thyroidectomy for screened at risk subjects.

• #1 Orphanet: Multiple endocrine neoplasia type 2

  https://www.orpha.net/en/disease/detail/653

  A rare multiple endocrine neoplasia (MEN) syndrome that is principally characterized by the association of medullary thyroid carcinoma (MTC) with other endocrine tumors. The variant MEN 2A is defined by MTC associated with pheochromocytoma and/or primary hyperparathyroidism (MEN2A); the variant MEN 2B is defined as an aggressive form of MTC in association with pheochromocytoma but without primary hyperparathyroidism. […] MEN2 can affect all age groups, with manifestations beginning in infancy to early childhood (MEN2B) or adulthood (MEN2A). Clinical manifestations are related to the tumors associated. MTC affects all forms of MEN2, is usually the first manifestation of the disease, and arises in the parafollicular cells of the thyroid. In MEN2A, MTC is associated in 50% of cases with pheochromocytoma (PCC) and in 20-30% with primary hyperparathyroidism (PHPT). PCC is almost always benign and is usually multicentric, bilateral, and confined to the adrenal gland. In classical MEN2A, PHPT is usually mild and between one to four parathyroid glands may be enlarged. MEN2A can also be associated with cutaneous lichen amyloidosis or Hirschsprung’s disease (HD). In MEN2B, MTC often presents in infancy and is highly aggressive, metastasizing early to regional lymph nodes and beyond. Approximately 50% of patients with MEN2B develop PCC. […] The prognosis depends on the stage at which MTC is diagnosed and efficacy of initial surgical treatment. Early diagnosis and complete initial resection of tumors increases life expectancy.

• #1 Multiple Endocrine Neoplasia Type 2 (MEN2): Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/123447-overview

  The 5- and 10-year survival rates in patients with MTC and MEN 2A are approximately 90% and 75%, respectively. […] These benign tumors of the adrenal medulla occur in 50% of patients with MEN2 by the time they are in their late 30s; however, prevalence varies in different families. […] Pheochromocytomas develop in more than 50% of patients with MEN2B and can appear during early childhood. […] The earliest possible detection of these tumors can prevent a hypertensive crisis.

• #1 Multiple Endocrine Neoplasia Type 2: Causes and Treatment

  https://www.healthline.com/health/multiple-endocrine-neoplasia-type-2

  Some people with MEN2 only develop mild symptoms, while others may develop life threatening tumors. People with MEN2B, in particular, tend to develop thyroid tumors that spread quickly to other body parts. […] The outlook for MEN2 varies widely. MEN2B tends to lead to more aggressive tumors than MEN2A. […] MTC recurrence is common in people with MEN2B. Recurrence can occur up to 20 years after initial treatment. The overall survival is generally high, with a 2019 study reporting a 94% survival rate at 10 years among 66 people with MEN2-associated MTC identified between 1986 and 2017. […] People with MEN2B who dont receive a thyroidectomy have a high risk of metastatic MTC at an early age. About half of people in this group live fewer than 25 years.

• #1 Multiple endocrine neoplasia type 2A | Endocrine Conditions

  https://www.yourhormones.info/endocrine-conditions/multiple-endocrine-neoplasia-type-2a/

  Primary hyperparathyroidism up to 20-30% of patients with the highest risk mutation may develop overactive parathyroid glands. This causes a high level of parathyroid hormone, which in turn causes calcium to be taken out of the bones and put into the bloodstream, resulting in increased levels of calcium in the blood and urine. Usually there are no symptoms but if present, symptoms include tiredness, depression, stomach ulcers, abdominal pain and non-specific aches and pains. If it is left untreated, osteoporosis and kidney stones can develop. […] The long-term outcome of MEN2A typically depends upon the MTC component of the disease. At one end of the spectrum this may be cured by preventative thyroid surgery in a young infant before MTC even develops and, at the other end, a patient may be first diagnosed in adulthood with MTC that has already spread to other parts of the body at time it is diagnosed. Patients who undergo an early preventative thyroidectomy, or have all the MTC removed at initial surgery, have an excellent outlook.

• #1 Multiple endocrine neoplasia type 2A | Endocrine Conditions

  https://www.yourhormones.info/endocrine-conditions/multiple-endocrine-neoplasia-type-2a/

  It is also important that regular follow-up is carried out to ensure that any phaeochromocytoma development is detected early, as the high blood pressure caused by these tumours can cause serious complications such as a stroke and heart attacks. However, with regular surveillance in a specialist clinic, these issues can be addressed at an early stage before any problems occur.

• #2 Multiple Endocrine Neoplasia (MEN) Syndromes | 5-Minute Clinical Consult

  https://www.unboundmedicine.com/5minute/view/5-Minute-Clinical-Consult/1688637/all/Multiple_Endocrine_Neoplasia__MEN__Syndromes?q=Neck+mass

  MEN2: prevalence estimated at 1:30,000 individuals: […] MEN2A: most common subtype (80% of MEN2 cases); the typical age at onset of symptoms is 5 to 25 years. […] MEN2A: medullary thyroid carcinoma (90%), pheochromocytoma (50%), and parathyroid hyperplasia or single adenoma (2030%). […] MEN2B: medullary thyroid carcinoma (90%), pheochromocytoma, and mucosal and GI ganglioneuromatosis; marfanoid habitus.

• #2 Multiple Endocrine Neoplasia Type 2 (MEN2): Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/123447-overview

  Multiple endocrine neoplasias type 2 (MEN2) is an inherited disorder characterized by the development of medullary thyroid cancer (MTC), parathyroid tumors, and pheochromocytoma. MEN2 results from germline mutations in the RET proto-oncogene and is transmitted in an autosomal dominant fashion. There are two MEN2 syndromes: MEN2A and MEN2B. […] The MEN2A syndrome is further classified on the basis of the presence of associated conditions. Classical MEN2A is characterized by MTC, pheochromocytoma, and primary hyperparathyroidism. […] MEN2B is less common than MEN2A, accounting for 5% of MEN2 cases. It is characterized by the following: More aggressive and penetrant MTC (occurring in 100% of cases), Pheochromocytoma (50%), Mucosal neuromas (95%-98%), Intestinal ganglion neuromas (40%), Hyperparathyroidism does not occur, Nearly all patients have a distinct marfanoid habitus.

• #2 Multiple endocrine neoplasia: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/multiple-endocrine-neoplasia/

  The most common sign of multiple endocrine neoplasia type 2 is a form of thyroid cancer called medullary thyroid carcinoma. Some people with this disorder also develop a pheochromocytoma, which is an adrenal gland tumor that can cause dangerously high blood pressure. […] The signs and symptoms of multiple endocrine neoplasia type 2 are relatively consistent within any one family.

• #2 Multiple endocrine neoplasia type 2: An overview | Genetics in Medicine

  https://www.nature.com/articles/gim2011127

  MTC is generally the first manifestation of MEN 2A. Probands with MTC typically present with a neck mass or neck pain, usually before age 35 years. Up to 70% of such individuals already have cervical lymph node metastases. Diarrhea, the most frequent systemic manifestation, occurs in affected individuals with a plasma calcitonin concentration of more than 10 ng/mL and implies a poor prognosis. All individuals with an MTC-predisposing mutation who have not undergone prophylactic thyroidectomy demonstrate biochemical evidence of MTC by age 35 years. […] Pheochromocytomas usually present after MTC or concomitantly; however, they are the first symptom in 13-27% of individuals with pheochromocytomas and MEN 2A. Pheochromocytomas in persons with MEN 2A and MEN 2B are diagnosed at an earlier age, have subtler symptoms, and are more likely to be bilateral than sporadic tumors.

• #2 Multiple endocrine neoplasia, type 2 (MEN 2) – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/men-2/symptoms-causes/syc-20540486

  People with MEN 2B have tumors of nerves in the lips, mouth, eyes and digestive tract. […] They also may have a tumor on the adrenal gland, called pheochromocytoma, and medullary thyroid cancer. […] Symptoms of MEN 2 depend on the type of tumor. […] People who have MEN 2B have a unique appearance. […] Following are symptoms that may be related to each tumor type. […] Medullary thyroid cancer: Lumps in the throat or neck, Trouble breathing or swallowing, Hoarseness, Diarrhea. […] Parathyroid hyperplasia, also known as primary hyperparathyroidism: Muscle and joint pain, Constipation, Fatigue, Memory problems, Kidney stones. […] Adrenal tumors, also known as pheochromocytoma: High blood pressure, Rapid heart rate, Anxiety, Headaches. […] Symptoms may be caused by a thyroid tumor pressing on tissues around it or by the release of too many hormones in the body. […] Some people who have medullary thyroid cancer may have no symptoms.

• #2 Multiple endocrine neoplasia type 2: An overview | Genetics in Medicine

  https://www.nature.com/articles/gim2011127

  HPT in MEN 2A is typically mild and may range from a single adenoma to marked hyperplasia. Most individuals with HPT have no symptoms; however, hypercalciuria and renal calculi may occur. If HPT is longstanding and unrecognized, symptoms may become severe. HPT usually presents many years after the diagnosis of MTC; the average age of onset is 38 years. […] The MEN 2B subtype comprises approximately 5% of cases of MEN 2. MEN 2B is characterized by the early development of an aggressive form of MTC in all affected individuals. Individuals with MEN 2B who do not undergo thyroidectomy at an early age (1 year) are likely to develop metastatic MTC at an early age. Before intervention with early prophylactic thyroidectomy, the average age of death in individuals with MEN 2B was 21 years. […] Pheochromocytomas occur in 50% of individuals with MEN 2B; approximately half are multiple and often bilateral.

• #2 Multiple Endocrine Neoplasia Type 2: Causes and Treatment

  https://www.healthline.com/health/multiple-endocrine-neoplasia-type-2

  Some people with MEN2 only develop mild symptoms, while others may develop life threatening tumors. People with MEN2B, in particular, tend to develop thyroid tumors that spread quickly to other body parts. […] The outlook for MEN2 varies widely. MEN2B tends to lead to more aggressive tumors than MEN2A. […] MTC recurrence is common in people with MEN2B. Recurrence can occur up to 20 years after initial treatment. The overall survival is generally high, with a 2019 study reporting a 94% survival rate at 10 years among 66 people with MEN2-associated MTC identified between 1986 and 2017. […] People with MEN2B who dont receive a thyroidectomy have a high risk of metastatic MTC at an early age. About half of people in this group live fewer than 25 years.

• #2 Multiple endocrine neoplasia type 2 – Wikipedia

  https://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_2

  The initial manifestation of MEN2 was medullary thyroid carcinoma in 60% of patients, medullary thyroid carcinoma synchronous with pheochromocytoma in 34% and pheochromocytoma alone in 6%. 72% had bilateral pheochromocytomas. […] MEN2A is additionally characterized by the presence of parathyroid hyperplasia. […] MEN2B is additionally characterized by the presence of mucocutaneous neuroma, gastrointestinal symptoms (e.g. constipation and flatulence), and muscular hypotonia. […] Prognosis of MEN2 is mainly related to the stage-dependant prognosis of MTC indicating the necessity of a complete thyroid surgery for index cases with MTC and the early thyroidectomy for screened at risk subjects.

• #2 Multiple Endocrine Neoplasia (MEN) Type 2 | American Thyroid Association

  https://www.thyroid.org/multiple-endocrine-neoplasia-men-type-2/

  MEN 2 (Multiple Endocrine Neoplasia Syndrome type 2) is a group of diseases including a type of thyroid cancer called Medullary Thyroid Cancer (MTC). […] If you have MEN 2A, you may have: a form of thyroid cancer called medullary thyroid cancer (MTC). […] If you have MEN 2B, you may have: medullary thyroid cancer (MTC) at an early age, even as a child. […] Symptoms of a PHEO are due to extra amounts of adrenaline-type hormones, made by the PHEO tumor cells, and can include: racing or skipping of your heart (palpitations), high blood pressure, severe headaches, increased sweating, your skin appears paler than normal. […] Symptoms are caused by the high calcium levels in the blood. These may include irritability, kidney stones, constipation, increased urination, and osteoporosis (low bone strength) leading to broken bones. […] Symptoms of CLA are dark and itchy areas of your skin, usually on or between your shoulder blades. […] HD is present at birth. Symptoms usually show up in infants or young children and can include: constipation, abdominal pain, vomiting, failure to grow, diarrhea.

• #2 Multiple Endocrine Neoplasia Type 2: Causes and Treatment

  https://www.healthline.com/health/multiple-endocrine-neoplasia-type-2

  Multiple endocrine neoplasia type 2 is a rare genetic disorder that causes tumors in the thyroid, parathyroid, and adrenal glands. […] Almost everybody with MEN2 develops MTC at some point, but lifetime rates of other associated tumors vary by subtype: […] Signs and symptoms of MTC can include a lump in your thyroid gland and swelling around the front of your neck. More advanced cases might also cause: […] Pheochromocytomas cause your body to produce too much epinephrine and norepinephrine. They may or may not cause symptoms. Symptoms can occur as often as several times per day or as infrequently as a couple of times per month. […] Parathyroid disease often doesnt cause symptoms in the early stages. Symptoms are often related to high calcium levels in your blood. They might include:

• #2 Multiple Endocrine Neoplasia | MD Anderson Cancer Center

  https://www.mdanderson.org/cancer-types/multiple-endocrine-neoplasia.html

  Multiple endocrine neoplasia type 2 (MEN2) is divided into three types: […] People with MEN2A often develop: Medullary thyroid cancer when they are young adults, Pheochromocytomas (adrenal tumors), Hyperparathyroidism, Cutaneous lichen amyloidosis, an itchy skin condition. […] MEN2B may cause: Medullary thyroid carcinoma in early childhood, Pheochromocytomas (adrenal tumors), Physical characteristics, including being tall and slender, Small benign tumors on the lips and tongue, Enlargement and irritation of the large intestine, Thickening of the eyelids and lips, Abnormalities of bones of feet and thighs, Curvature of the spine. […] Pheochromocytoma is a tumor that occurs in the adrenal medulla that makes excess hormones called catecholamines (such as adrenaline). A pheochromocytoma is diagnosed in about 50% of people with MEN2A and MEN2B, although they do not occur in true FMTC. […] If detected early, pheochromocytomas are easily treated. However, if not treated, they may be potentially fatal due to dangerously high blood pressures that can occur during accidents, surgery, childbirth or other physically stressful situations.

• #2 Multiple endocrine neoplasia type 2A | Endocrine Conditions

  https://www.yourhormones.info/endocrine-conditions/multiple-endocrine-neoplasia-type-2a/

  Primary hyperparathyroidism up to 20-30% of patients with the highest risk mutation may develop overactive parathyroid glands. This causes a high level of parathyroid hormone, which in turn causes calcium to be taken out of the bones and put into the bloodstream, resulting in increased levels of calcium in the blood and urine. Usually there are no symptoms but if present, symptoms include tiredness, depression, stomach ulcers, abdominal pain and non-specific aches and pains. If it is left untreated, osteoporosis and kidney stones can develop. […] The long-term outcome of MEN2A typically depends upon the MTC component of the disease. At one end of the spectrum this may be cured by preventative thyroid surgery in a young infant before MTC even develops and, at the other end, a patient may be first diagnosed in adulthood with MTC that has already spread to other parts of the body at time it is diagnosed. Patients who undergo an early preventative thyroidectomy, or have all the MTC removed at initial surgery, have an excellent outlook.

• #2 Multiple Endocrine Neoplasia Type 2: Causes and Symptoms

  https://www.massgeneral.org/children/multiple-endocrine-neoplasia-type-2

  Multiple endocrine neoplasia type 2 (MEN2) is a hereditary condition that increases the likelihood of tumors in the endocrine system, particularly in the thyroid, parathyroid and adrenal glands. […] The age at which children start to develop MEN2-associated tumors depends on the specific genetic mutation in the RET gene. The symptoms depend on the specific tumor your child develops. MTC: People with MTC sometimes do not have obvious symptoms. Potential symptoms include: A tumor of the thyroid gland that may be detected during a physical exam or thyroid ultrasound, A lump in the front of the neck, Difficulty speaking normally, Difficulty swallowing, Difficulty breathing, Large lymph nodes, Throat and neck pain. […] Hyperparathyroidism: Weakness or fatigue, Depression, Confusion or forgetfulness, An increase in thirst and urination, Nausea, Lack of appetite, Abdominal pain, Constipation, Bone and joint pain, Osteoporosis (fragile bones), An increased risk of developing kidney stones.

• #2 Multiple Endocrine Neoplasia Type 2 (MEN2): Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/123447-overview

  MTC develops in virtually all patients with MEN2A; it is often the first expressed abnormality, with onset usually in the first to third decade of life. […] Pheochromocytomas are present in approximately half of MEN2A patients. […] Four-gland parathyroid hyperplasia is present in nearly half of patients with MEN2A but is less common than pheochromocytomas. […] Early treatment of medullary thyroid carcinoma (MTC) can prevent death, and careful monitoring for pheochromocytomas can decrease the chance of hypertensive episodes. […] MTC, the characteristic tumor of MEN2, is present in all subtypes. Pheochromocytomas appear in MEN2A and MEN2B patients. Primary hyperparathyroidism frequently develops in patients with MEN2A but rarely in those with MEN2B. […] The prognosis in patients with MTC varies in part with the disease stage at the time of diagnosis.

• #2 Multiple Endocrine Neoplasias Type 2 – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK519054/

  Cutaneous lichen amyloidosis (CLA) also termed lichen planus amyloidosis (LPA), is a rare skin condition that is associated with MEN2A. […] Hirschsprung disease (HD), also known as chronic aganglionic megacolon, also is associated with MEN2A. […] Marfanoid habitus, kyphoscoliosis/lordosis, joint laxity, mucosal neuromas typically at lips and tongue, and intestinal ganglioneuromas are conditions exclusively associated with the MEN2B syndrome. […] MEN2A and MEN2B should be suspected in any patient diagnosed with MTC or pheochromocytoma, particularly when the age of presentation is very young (younger than 35). […] The classic symptoms of pheochromocytoma are the paroxysms of a headache, anxiety, diaphoresis and palpitations, and high blood pressure. […] The presence of these symptoms in the third decade, particularly in between 25 and 32 years, should prompt to screen for MEN2.

• #2 Multiple Endocrine Neoplasia, Type 2B (MEN 2B) – Endocrine and Metabolic Disorders – MSD Manual Professional Edition

  https://www.msdmanuals.com/professional/endocrine-and-metabolic-disorders/multiple-endocrine-neoplasia-men-syndromes/multiple-endocrine-neoplasia-type-2b-men-2b

  Gastrointestinal abnormalities related to altered motility (constipation, diarrhea, and, occasionally, megacolon) are common and thought to result from diffuse intestinal ganglioneuromatosis. […] Patients almost always have a marfanoid habitus. Skeletal abnormalities are common, including deformities of the spine (lordosis, kyphosis, scoliosis), slipped capital femoral epiphyses, dolichocephaly (hull-shaped skull, also called scaphocephaly), pes cavus, and talipes equinovarus. […] Medullary thyroid carcinoma and pheochromocytoma resemble the corresponding disorders in MEN 2A syndrome; both tend to be bilateral and multicentric. Medullary thyroid carcinoma, however, tends to be particularly aggressive in MEN 2B and may be present in very young children. […] Although the neuromas, facial characteristics, and gastrointestinal disorders are present at an early age, the syndrome may not be recognized until medullary thyroid carcinoma or pheochromocytoma manifests in later life.

• #2 Multiple Endocrine Neoplasia, Type 2B (MEN 2B) – Endocrine and Metabolic Disorders – MSD Manual Professional Edition

  https://www.msdmanuals.com/professional/endocrine-and-metabolic-disorders/multiple-endocrine-neoplasia-men-syndromes/multiple-endocrine-neoplasia-type-2b-men-2b

  Multiple endocrine neoplasia, type 2B (MEN 2B) is an autosomal dominant syndrome characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities. Symptoms depend on the glandular abnormalities present. […] Symptoms and signs reflect the glandular abnormalities present. About 50% of patients have the complete syndrome with mucosal neuromas, pheochromocytomas, and medullary thyroid carcinoma. Fewer than 10% have neuromas and pheochromocytomas alone, whereas the remaining patients have neuromas and medullary thyroid carcinoma without pheochromocytoma. […] Often, mucosal neuromas are the earliest sign, and they occur in most or all patients. Neuromas appear as small glistening bumps on the lips, tongue, and buccal mucosae.

• #2 Gastrointestinal Manifestations of Multiple Endocrine Neoplasia Type 2

  https://pmc.ncbi.nlm.nih.gov/articles/PMC1422490/

  To determine the clinical features, natural history, and role of surgery for gastrointestinal manifestations of the multiple endocrine neoplasia type 2 (MEN 2) syndromes. […] The MEN 2 syndromes are characterized by medullary thyroid carcinoma and other endocrinopathies. In addition, some patients with MEN 2A develop Hirschsprungs disease (HD), and all patients with MEN 2B have intestinal neuromas and megacolon that can cause significant gastrointestinal problems. […] All patients with MEN 2A-HD were operated on for HD 2 to 63 years before being diagnosed with MEN 2. All patients responding were underweight as infants and had symptoms of abdominal pain, distention, and constipation. Eighty-eight percent had hematochezia, 63% had emesis, and 33% had intermittent diarrhea before surgery.

• #2

  https://www.healio.com/news/endocrinology/20210308/gi-symptoms-negatively-affect-quality-of-life-in-multiple-endocrine-neoplasia-type-2

  More than half of patients with multiple endocrine neoplasia type 2, or MEN2, reported abdominal pain, diarrhea and constipation, and said gastrointestinal symptoms negatively affect their quality of life, according to survey data. […] More than 70% of MEN2A participants reported loose stools, bloating and excessive gas and flatulence, whereas more than 70% in the MEN2B group reported pain or discomfort before defecation, difficulty defecating, loose stools, abdominal cramps, bloating and excessive gas and flatulence. […] About 70% of participants in both groups reported at least moderate upper GI symptoms. […] The MEN2B cohort had more than double the prevalence of severe to very severe abdominal cramps (35% vs. 15%) and severe bloating (50% vs. 22%) compared with the MEN2A cohort. […] The quality of life portion of the survey was completed by 26 people in the MEN2A group and 21 in the MEN2B cohort. About 80% of participants in both groups reported feeling upset about their constipation; 81% of MEN2A participants and 66% of MEN2B respondents said they felt embarrassed to spend a long time in the bathroom when away from home. […] Constipation severely impaired the physical, psychological and social functioning of the patients with both MEN2 syndromes, the researchers wrote.

• #2

  https://link.springer.com/article/10.1007/s12328-024-01979-y

  The frequency of gastrointestinal symptoms or abnormalities were observed in 14 of 16 patients (88%), which include constipation in 10 patients, diarrhea in three, and megacolon in five. […] Recently, Nagaoka et al. reported four Japanese cases of MEN 2B in both children and adults. Three of the four patients had gastrointestinal manifestations, one of whom had intestinal malrotation and megacolon at age 14 years of age, and the other had chronic constipation and flatulence since infancy. […] Gastrointestinal manifestations offer the most important window of opportunity for early detection of MEN 2B. […] In the present case, we suspect that constipation at the age of 6 years was caused by mild loss of intestinal tone, and abdominal bloating and constipation at the age of 14 years was the result of megacolon.

• #2 Multiple Endocrine Neoplasia, Type 2A (MEN 2A) – Endocrine and Metabolic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/multiple-endocrine-neoplasia-men-syndromes/multiple-endocrine-neoplasia-type-2a-men-2a

  Most patients with multiple endocrine neoplasia, type 2A have medullary thyroid carcinoma, typically beginning in childhood. […] Other manifestations are those of hormone excess, particularly hypertension due to pheochromocytoma and hypercalcemia due to hyperparathyroidism. […] Pheochromocytoma usually originates in the adrenal glands. Pheochromocytoma occurs in 40 to 50% of people within a MEN 2A kindred. […] Hypertensive crisis secondary to pheochromocytoma is a common manifestation. Hypertension in MEN 2A patients with pheochromocytoma is more often paroxysmal than sustained, in contrast to the usual sporadic case. […] Ten to 20% of patients have evidence of hyperparathyroidism (which may be long-standing), with hypercalcemia, nephrolithiasis, nephrocalcinosis, or renal failure. […] Once medullary thyroid carcinoma has metastasized, tyrosine kinase inhibitors, including selpercatinib, cabozantinib, and vandetanib, can lengthen progression-free survival. […] Psychological distress appears to be common and chronic in patients with MEN 2.

• #2 Multiple Endocrine Neoplasias Type 2 – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK519054/

  Multiple endocrine neoplasia type 2 (MEN2) is a hereditary cancer syndrome associated primarily with tumors of the adrenal gland, thyroid and parathyroid. […] MEN2 is further classified into two subcategories: MEN2A and MEN2B. Both types involve the thyroid and adrenal glands, but MEN2A also causes primary hyperparathyroidism (20 % to 30%). […] Medullar thyroid cancer (MTC) is the most common manifestation of MEN2A and MEN2B with 100% penetrance and usually the first manifestation in MEN2 patients. […] Pheochromocytoma, a typically benign adrenal medullary tumor (usually bilateral and multicentric), occurs in 40% to 50% of patients with MEN2A or MEN2B; the frequency and penetration highly depend on the specific type of mutation. […] Primary hyperparathyroidism is present is 10% to 25% of patients with MEN 2A, while it is not associated with MEN 2B.

• #2 Multiple Endocrine Neoplasia Type 2 (MEN2) | Doctor

  https://patient.info/doctor/multiple-endocrine-neoplasia-type-2-men2

  Patients tend to present much earlier than MEN2A. This allows early intervention, as the neuromas usually predate MTC and phaeochromocytoma. […] MTC typically presents as a neck mass or neck pain at about age 15 to 20 years. However, more than 50% of such patients already have cervical lymph node metastases. […] The 10-year overall survival for patients with MTC was 64% in population based study from Denmark.

• #2 Orphanet: Multiple endocrine neoplasia type 2

  https://www.orpha.net/en/disease/detail/653

  A rare multiple endocrine neoplasia (MEN) syndrome that is principally characterized by the association of medullary thyroid carcinoma (MTC) with other endocrine tumors. The variant MEN 2A is defined by MTC associated with pheochromocytoma and/or primary hyperparathyroidism (MEN2A); the variant MEN 2B is defined as an aggressive form of MTC in association with pheochromocytoma but without primary hyperparathyroidism. […] MEN2 can affect all age groups, with manifestations beginning in infancy to early childhood (MEN2B) or adulthood (MEN2A). Clinical manifestations are related to the tumors associated. MTC affects all forms of MEN2, is usually the first manifestation of the disease, and arises in the parafollicular cells of the thyroid. In MEN2A, MTC is associated in 50% of cases with pheochromocytoma (PCC) and in 20-30% with primary hyperparathyroidism (PHPT). PCC is almost always benign and is usually multicentric, bilateral, and confined to the adrenal gland. In classical MEN2A, PHPT is usually mild and between one to four parathyroid glands may be enlarged. MEN2A can also be associated with cutaneous lichen amyloidosis or Hirschsprung’s disease (HD). In MEN2B, MTC often presents in infancy and is highly aggressive, metastasizing early to regional lymph nodes and beyond. Approximately 50% of patients with MEN2B develop PCC. […] The prognosis depends on the stage at which MTC is diagnosed and efficacy of initial surgical treatment. Early diagnosis and complete initial resection of tumors increases life expectancy.

• #2 Multiple endocrine neoplasia type 2B | Endocrine Conditions

  https://www.yourhormones.info/endocrine-conditions/multiple-endocrine-neoplasia-type-2b/

  There are three types of hormone-secreting tumours that can develop in MEN2B: Medullary cancer of the thyroid (MTC) all patients with MEN2B will develop medullary thyroid cancer; as compared with MEN2A the MTC develops earlier and in a more aggressive form in MEN2B. […] Phaeochromocytoma up to 50% of patients with MEN2B will develop these tumours of the adrenal glands that release hormones such as adrenaline or noradrenaline into the bloodstream. […] High levels of these hormones can cause episodes of sweating, palpitations, headaches, feelings of anxiety and high blood pressure; they may be similar to panic attacks. […] The long-term outcome of MEN2B depends very much on the MTC component of the disease. MEN2B is associated with aggressive medullary thyroid cancer at an early age and patients may have cancer that has spread already at diagnosis. […] It is also important that regular follow-up is carried out to ensure that any phaeochromocytoma development is detected early, as the high blood pressure caused by these tumours can cause serious complications such as a stroke and heart attack.

• #3 Multiple Endocrine Neoplasia Type 2 – Endocrine Surgery | UCLA Health

  https://www.uclahealth.org/medical-services/surgery/endocrine-surgery/patient-resources/patient-education/endocrine-surgery-encyclopedia/multiple-endocrine-neoplasia-type-2

  Multiple Endocrine Neoplasia II (MEN II) is a hereditary disorder in which a type of thyroid cancer accompanied by recurring cancer of the adrenal glands. […] The symptoms may vary, but are consistent with those of pheochromocytoma, medullary carcinoma of the thyroid, and sometimes hyperparathyroidism. […] Severe headache, heart palpitations, rapid heart rate, sweating, chest pain, abdominal pain, nervousness, irritability, loss of weight, diarrhea, cough, cough with blood, fatigue, back pain, increased urine output, increased thirst, loss of appetite, nausea, muscular weakness, depression, personality changes. […] Pheochromocytoma is usually benign (not cancer), but the accompanying medullary carcinoma of the thyroid that characterizes this condition is a very aggressive and potentially fatal cancer. Nonetheless, early diagnosis and surgery can often lead to cure.

• #3 Multiple Endocrine Neoplasia Type 2 | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/multiple-endocrine-neoplasia-type-2

  Unlike MEN2A where a tumor may be the first symptom of the syndrome, MEN2B has some early warning symptoms. In infancy, for example, the most common symptoms of MEN2B are the inability to make tears (alacrima) and constipation. Decreased muscular tone, with or without congenital club feet, and failure to thrive are additional early features of MEN2B. […] All individuals with MEN2B will develop early onset MTC (often before the child is 1 year old). About half will also develop tumors of the adrenal glands (pheochromocytomas). […] In addition, individuals with MEN2B have a greater risk of developing ganglioneuromas of the intestinal tract, rare tumors made of ganglion cells, nerve fibers and supporting cells that result in constipation.

• #3 Pulsenotes | MEN syndromes notes

  https://app.pulsenotes.com/medicine/endocrinology/notes/men-syndromes

  MEN 2 is caused by a mutation of the RET proto-oncogene. The condition is predominantly characterised by primary hyperparathyroidism, medullary thyroid cancer and phaeochromocytoma. […] Primary hyperparathyroidism occurs in around 10-25% of patients with MEN 2. It is seen in type 2A but is not associated with type 2B. Patients may present with symptoms of hypercalcaemia but in MEN 2 it is frequently mild and asymptomatic. […] Phaeochromocytomas are neuroendocrine tumours arising from the adrenal medulla. These tumours cause an excess of the catecholamines adrenaline and noradrenaline. In MEN 2 phaeochromocytomas are bilateral in around 60% of cases as opposed to 10% of sporadic cases. […] Medullary thyroid cancer occurs in almost all patients with MEN 2. The disease is characteristically bilateral and multifocal in MEN 2, as opposed to unilateral disease seen in sporadic cases. Due to high penetrance, prophylactic surgery is indicated in all patients with MEN 2.

• #3 Multiple endocrine neoplasia 2 (MEN2) | Macmillan Cancer Support

  https://www.macmillan.org.uk/cancer-information-and-support/worried-about-cancer/pre-cancerous-and-genetic-conditions/multiple-endocrine-neoplasia-2-men2

  Phaeochromocytoma can cause the adrenal gland to make large amounts of hormones called catecholamines. One of these hormones is adrenaline (epinephrine). Adrenaline regulates the heart rate and blood pressure. Having too much adrenaline can cause symptoms such as severe headaches, a fast heart rate (palpitations), excessive sweating, feeling anxious, increased appetite, feeling sick, trembling hands, pain in the chest or tummy area (abdomen). […] If you have MEN2A, the parathyroid glands may become large and overactive. This is most likely to happen between the ages of 20 to 40. […] High levels of calcium in the blood can make you feel sick (nauseous), thirsty, drowsy, confused, unwell, constipated, need to pee (pass urine) often. […] The main treatment for overactive parathyroid glands is an operation to remove some or all of the parathyroid glands.

• #3 Multiple endocrine neoplasia type 2A | Endocrine Conditions

  https://www.yourhormones.info/endocrine-conditions/multiple-endocrine-neoplasia-type-2a/

  Primary hyperparathyroidism up to 20-30% of patients with the highest risk mutation may develop overactive parathyroid glands. This causes a high level of parathyroid hormone, which in turn causes calcium to be taken out of the bones and put into the bloodstream, resulting in increased levels of calcium in the blood and urine. Usually there are no symptoms but if present, symptoms include tiredness, depression, stomach ulcers, abdominal pain and non-specific aches and pains. If it is left untreated, osteoporosis and kidney stones can develop. […] The long-term outcome of MEN2A typically depends upon the MTC component of the disease. At one end of the spectrum this may be cured by preventative thyroid surgery in a young infant before MTC even develops and, at the other end, a patient may be first diagnosed in adulthood with MTC that has already spread to other parts of the body at time it is diagnosed. Patients who undergo an early preventative thyroidectomy, or have all the MTC removed at initial surgery, have an excellent outlook.

• #3 Multiple Endocrine Neoplasia (MEN): Types & Symptoms

  https://my.clevelandclinic.org/health/diseases/23088-multiple-endocrine-neoplasia-men

  All people with MEN type 2 will develop medullary thyroid cancer (carcinoma), known as MTC. Medullary thyroid cancer represents approximately 1% to 2% of thyroid cancers in the United States. MTC can spread (metastasize) to lymph nodes and other organs. […] The symptoms of MEN type 2 vary depending on which glands are affected and can vary widely from person to person even within members of the same family. Symptoms are usually caused by medullary thyroid cancer (MTC) and higher-than-normal hormone levels caused by certain tumors. […] Symptoms of medullary thyroid cancer include: A lump in the front of your neck. Pain in the front of your neck. Changes to your voice, such as hoarseness. Coughing. Trouble swallowing. Shortness of breath. […] Approximately 50% of people with MEN type 2 will develop a pheochromocytoma, a usually benign tumor in your adrenal gland(s). Symptoms of pheochromocytoma happen when the tumor releases too much adrenaline or noradrenaline into your blood. […] Symptoms of hyperparathyroidism include: Joint pain. Muscle weakness. Fatigue. Depression. Trouble concentrating. Loss of appetite. Nausea and vomiting. Increased thirst and frequent urination. Constipation. Bone pain.

• #3 Multiple Endocrine Neoplasia Syndromes (MEN) – Hormonal and Metabolic Disorders – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/hormonal-and-metabolic-disorders/multiple-endocrine-neoplasia-syndromes/multiple-endocrine-neoplasia-syndromes-men

  People with multiple endocrine neoplasia type 2A develop tumors or excessive growth and activity in two or three of the following glands: The thyroid gland, The adrenal glands, The parathyroid glands. […] Almost everyone with MEN type 2A develops medullary thyroid cancer. About 40 to 50% develop certain tumors of the adrenal glands (pheochromocytomas), which usually raise blood pressure because of the epinephrine and other substances they produce. The high blood pressure may be intermittent or constant and is often very severe. […] Some people with MEN type 2A have overactive parathyroid glands. High levels of parathyroid hormone cause increased levels of calcium in the blood. The increased calcium often causes no symptoms but leads to kidney stones in about 25% of people. […] The medullary thyroid cancer that occurs in MEN type 2B tends to develop at an early age and has been found in infants as young as 3 months of age. The medullary thyroid tumors in MEN type 2B grow faster and spread more rapidly than those in MEN type 2A. […] People with MEN type 2B often develop spinal abnormalities, especially curvature of the spine. They may also have abnormalities of the bones of the skull, feet, and thighs. Most people with MEN 2B have long limbs and loose joints and appear quite thin.

• #3 Multiple endocrine neoplasia type 2B | Endocrine Conditions

  https://www.yourhormones.info/endocrine-conditions/multiple-endocrine-neoplasia-type-2b/

  Multiple endocrine neoplasia type 2B (MEN2B) is a rare inherited disease causing the development of tumours in the thyroid, adrenal and parathyroid glands, and mucosal tumours. […] Patients with MEN2B usually present at a young age. Most people with multiple MEN2B are characteristically tall and thin with long fingers and toes, and may have a similar appearance to people with Marfans syndrome. […] A dentist or doctor may suspect MEN2B if they detect mucosal neuromas of the lips or tongue. These can lead to lips getting a swollen appearance or irregularities around the tongue. […] Sometimes MEN2B presents as an uncommon cause of abdominal swelling, constipation and/or diarrhoea. This is due to benign tumours of nerves in the bowel gut called ganglioneuromas causing the bowel not to function properly.

• #3 Multiple Endocrine Neoplasia, Type 2B (MEN 2B) – Endocrine and Metabolic Disorders – MSD Manual Professional Edition

  https://www.msdmanuals.com/professional/endocrine-and-metabolic-disorders/multiple-endocrine-neoplasia-men-syndromes/multiple-endocrine-neoplasia-type-2b-men-2b

  Gastrointestinal abnormalities related to altered motility (constipation, diarrhea, and, occasionally, megacolon) are common and thought to result from diffuse intestinal ganglioneuromatosis. […] Patients almost always have a marfanoid habitus. Skeletal abnormalities are common, including deformities of the spine (lordosis, kyphosis, scoliosis), slipped capital femoral epiphyses, dolichocephaly (hull-shaped skull, also called scaphocephaly), pes cavus, and talipes equinovarus. […] Medullary thyroid carcinoma and pheochromocytoma resemble the corresponding disorders in MEN 2A syndrome; both tend to be bilateral and multicentric. Medullary thyroid carcinoma, however, tends to be particularly aggressive in MEN 2B and may be present in very young children. […] Although the neuromas, facial characteristics, and gastrointestinal disorders are present at an early age, the syndrome may not be recognized until medullary thyroid carcinoma or pheochromocytoma manifests in later life.

• #3

  https://link.springer.com/article/10.1007/s12328-024-01979-y

  Based on the radiographic findings, the megacolon was reported among 29-63% cases and considered a typical feature of MEN 2B. […] The ganglioneuromatosis could lead to loss of bowel tone, distension, segmental dilation and, ultimately megacolon. […] In conclusion, we report the case of an adolescent with MEN 2B proceeding constipation and megacolon complicated by volvulus before the diagnosis of MEN 2B. Timely diagnosis may lead to appropriate treatment of MTC and improve mortality.

• #3 Find out more about multiple endocrine neoplasia

  https://www.markvanderpump.co.uk/blog/posts/about-multiple-endocrine-neoplasia-men1-and-men2

  MEN2 differs from MEN1 in one very important way. Those with MEN2 will almost certainly develop a rare form of thyroid cancer called medullary cancer. This tends to appear early in life and grows very quickly. Because of this patients identified with the MEN2 gene are usually advised to have their thyroid surgically removed whilst they are young. […] Symptoms may include blood pressure, periodic sweating, diarrhoea, itchy skin lesions or a lump in the neck. […] In MEN2A and familial medullary thyroid cancer (FMTC), the peak incidence of the condition is during a patients thirties. […] Individuals with a positive genetic result should be regularly tested for endocrine gland overactivity, this typically involves 2 blood tests per year and scans from time to time.

• #3 Multiple endocrine neoplasia type 2: An overview | Genetics in Medicine

  https://www.nature.com/articles/gim2011127

  HPT in MEN 2A is typically mild and may range from a single adenoma to marked hyperplasia. Most individuals with HPT have no symptoms; however, hypercalciuria and renal calculi may occur. If HPT is longstanding and unrecognized, symptoms may become severe. HPT usually presents many years after the diagnosis of MTC; the average age of onset is 38 years. […] The MEN 2B subtype comprises approximately 5% of cases of MEN 2. MEN 2B is characterized by the early development of an aggressive form of MTC in all affected individuals. Individuals with MEN 2B who do not undergo thyroidectomy at an early age (1 year) are likely to develop metastatic MTC at an early age. Before intervention with early prophylactic thyroidectomy, the average age of death in individuals with MEN 2B was 21 years. […] Pheochromocytomas occur in 50% of individuals with MEN 2B; approximately half are multiple and often bilateral.

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