Zespół mielodysplastyczny
Etiologia i przyczyny

Zespół mielodysplastyczny (MDS) to heterogenna grupa nowotworów hematopoetycznych charakteryzująca się nieskuteczną hematopoezą, dysmorfią komórek krwi i cytopenią. Etiologia MDS jest wieloczynnikowa i obejmuje mutacje somatyczne w genach takich jak DNMT3A, TET2, ASXL1, TP53, RUNX1, SRSF2 i SF3B1 oraz aberracje chromosomalne (np. delecje 5q, 7q, 20q, monosomie 5 i 7, trisomia 8) występujące u ponad 80% pacjentów. MDS dzieli się na pierwotny (80-90% przypadków) i wtórny (10-20%), związany z wcześniejszą chemioterapią (leki alkilujące, inhibitory topoizomerazy II) lub radioterapią, które zwiększają ryzyko rozwoju choroby w ciągu 5-7 lat. Czynniki środowiskowe, takie jak ekspozycja na benzen, pestycydy, metale ciężkie oraz palenie tytoniu (zwiększające ryzyko o około 1,6 raza), również odgrywają istotną rolę. Rzadkie zespoły genetyczne (np. anemia Fanconiego, dyskeratoza wrodzona) predysponują do MDS, zwłaszcza u młodszych pacjentów. Mediana wieku zachorowania wynosi około 70 lat, a choroba częściej dotyka mężczyzn.

  1. Etiologia zespołu mielodysplastycznego (MDS)
    1. MDS pierwotny i wtórny
    2. Zmiany genetyczne i molekularne w MDS
    3. MDS związany z leczeniem (t-MDS)
    4. Czynniki środowiskowe w etiologii MDS
    5. Predyspozycje genetyczne i zespoły wrodzone
    6. Rola wieku i płci w rozwoju MDS
    7. Ewolucja klonalna i progresja MDS
    8. Choroby autoimmunologiczne a MDS
    9. Infekcje wirusowe a MDS
  2. Podsumowanie czynników etiologicznych MDS
    1. Znaczenie kliniczne poznania etiologii MDS
    2. Kolejne rozdziały

Etiologia zespołu mielodysplastycznego (MDS)

Zespół mielodysplastyczny (MDS) to heterogenna grupa chorób nowotworowych układu krwiotwórczego, charakteryzująca się nieskuteczną hematopoezą, dysmorfią komórek krwi oraz cytopenią w krwi obwodowej. Etiologia MDS jest złożona i w wielu przypadkach nie jest w pełni poznana. Zrozumienie czynników przyczynowych ma kluczowe znaczenie dla diagnostyki, leczenia i prewencji tej choroby.12

MDS pierwotny i wtórny

W zależności od przyczyny, MDS można podzielić na dwie główne kategorie:12

  • MDS pierwotny (de novo) – stanowi około 80-90% przypadków i nie ma jednoznacznie określonej przyczyny. Choroba rozwija się spontanicznie, bez identyfikowalnych czynników wyzwalających.
  • MDS wtórny (związany z leczeniem, t-MDS) – stanowi około 10-20% przypadków i jest konsekwencją wcześniejszej ekspozycji na czynniki uszkadzające szpik kostny, takie jak chemioterapia czy radioterapia.

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Zmiany genetyczne i molekularne w MDS

Badania genomiczne znacząco poszerzyły wiedzę na temat podłoża molekularnego MDS. Zmiany genetyczne odgrywają kluczową rolę w patogenezie tej choroby:12

  • Mutacje somatyczne – zidentyfikowano ponad 100 mutacji punktowych związanych z MDS. Najczęściej występujące mutacje dotyczą genów: DNMT3A, TET2, ASXL1, TP53, RUNX1, SRSF2 i SF3B1.
  • Nieprawidłowości chromosomalne – występują u ponad 80% pacjentów z MDS i obejmują delecje, duplikacje lub zmiany strukturalne chromosomów. Najczęstsze aberracje chromosomalne to: delecja chromosomu 5q, 7q i 20q, monosomia chromosomu 5 lub 7 oraz trisomia chromosomu 8.

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Badania wykazały, że do rozwoju MDS zwykle konieczne jest nagromadzenie mutacji w kilku różnych genach w komórkach szpiku kostnego. Mutacje te mogą gromadzić się z wiekiem, co częściowo tłumaczy zwiększoną częstość występowania MDS u osób starszych.12

MDS związany z leczeniem (t-MDS)

Wcześniejsze leczenie przeciwnowotworowe jest najlepiej udokumentowanym czynnikiem ryzyka rozwoju MDS. Mechanizmy powstawania t-MDS obejmują:12

  • Chemioterapia – szczególnie leki alkilujące (melfalan, cyklofosfamid, busulfan, chlorambucyl) i inhibitory topoizomerazy II zwiększają ryzyko rozwoju MDS w ciągu 5-7 lat po ekspozycji.
  • Radioterapia – ekspozycja na promieniowanie jonizujące może prowadzić do uszkodzenia DNA w komórkach macierzystych szpiku kostnego.
  • Leczenie skojarzone – połączenie chemioterapii i radioterapii znacząco zwiększa ryzyko rozwoju MDS.

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T-MDS charakteryzuje się gorszym rokowaniem w porównaniu do pierwotnego MDS i często szybciej przekształca się w ostrą białaczkę szpikową (AML).12

Czynniki środowiskowe w etiologii MDS

Ekspozycja na różne substancje chemiczne i czynniki środowiskowe może zwiększać ryzyko rozwoju MDS:12

  • Benzen – długotrwała ekspozycja na benzen, który występuje w dymie tytoniowym, paliwach, farbach i innych produktach przemysłowych, jest najlepiej udokumentowanym środowiskowym czynnikiem ryzyka MDS.
  • Palenie tytoniu – zwiększa ryzyko rozwoju MDS o około 1,6 raza w porównaniu do osób niepalących.
  • Pestycydy i herbicydy – długotrwała ekspozycja zawodowa na te substancje może przyczyniać się do rozwoju MDS.
  • Metale ciężkie – ekspozycja na rtęć, ołów i inne metale ciężkie jest związana ze zwiększonym ryzykiem MDS.

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Predyspozycje genetyczne i zespoły wrodzone

Chociaż większość przypadków MDS nie jest dziedziczna, niektóre rzadkie zespoły genetyczne i wrodzone zwiększają ryzyko rozwoju tej choroby:12

  • Anemia Fanconiego – rzadka choroba genetyczna, w której szpik kostny nie produkuje wystarczającej liczby zdrowych komórek krwi.
  • Dyskeratoza wrodzona – zespół charakteryzujący się nieprawidłową produkcją komórek krwi w szpiku kostnym.
  • Niedokrwistość Diamond-Blackfana – rzadkie zaburzenie krwi, w którym szpik kostny nie produkuje wystarczającej liczby erytrocytów.
  • Zespół Shwachmana-Diamonda – rzadka choroba genetyczna wpływająca na funkcjonowanie szpiku kostnego.
  • Rodzinna trombocytopenia – dziedziczne zaburzenie dotyczące produkcji płytek krwi.
  • Ciężka wrodzona neutropenia – grupa chorób charakteryzujących się niskim poziomem neutrofilów.

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Osoby z tymi zespołami mają zwiększone ryzyko rozwoju MDS, często w młodszym wieku niż w populacji ogólnej. Mutacje w genach GATA2 i SAMD9/9L stanowią około 30% przypadków MDS u dzieci.12

Rola wieku i płci w rozwoju MDS

Czynniki demograficzne mają istotne znaczenie w epidemiologii MDS:12

  • Wiek – MDS jest chorobą głównie osób starszych, z medianą wieku zachorowania wynoszącą 70 lat. Ryzyko rozwoju MDS znacząco wzrasta po 60. roku życia, co może wynikać z akumulacji mutacji somatycznych z wiekiem.
  • Płeć – MDS częściej występuje u mężczyzn niż u kobiet. Przyczyna tej dysproporcji nie jest w pełni wyjaśniona, ale może być związana z większą ekspozycją mężczyzn na czynniki ryzyka, takie jak palenie tytoniu czy zawodowa ekspozycja na chemikalia.

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Ewolucja klonalna i progresja MDS

MDS jest chorobą klonalną wywodzącą się z nieprawidłowych komórek macierzystych szpiku kostnego. Proces rozwoju i progresji MDS obejmuje:12

  • Początkowe mutacje – pojedyncze mutacje w komórkach macierzystych szpiku kostnego mogą prowadzić do powstania klonu pre-leukemicznego.
  • Akumulacja dodatkowych mutacji – z czasem dochodzi do nagromadzenia kolejnych mutacji, co prowadzi do dalszej niestabilności genetycznej i progresji choroby.
  • Transformacja w AML – u około 30% pacjentów z MDS dochodzi do transformacji w ostrą białaczkę szpikową.

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Badania wykazały, że obecność określonych mutacji i aberracji chromosomalnych jest związana z różnymi wzorcami progresji choroby. Na przykład, mutacje w genach SRSF2 i NRAS są związane ze zwiększonym ryzykiem transformacji w AML, podczas gdy mutacje w genach ASXL1, TP53, RUNX1 i CBL są związane z progresją do MDS wyższego ryzyka bez transformacji w AML.12

Choroby autoimmunologiczne a MDS

Istnieją doniesienia sugerujące związek między chorobami autoimmunologicznymi a rozwojem MDS. Przewlekła stymulacja immunologiczna może być czynnikiem wyzwalającym dla MDS. Choroby takie jak reumatoidalne zapalenie stawów czy toczeń rumieniowaty układowy mogą być czynnikami ryzyka dla rozwoju MDS, chociaż mechanizm tego związku nie jest w pełni wyjaśniony.123

Infekcje wirusowe a MDS

Niektóre badania sugerują, że infekcje wirusowe mogą przyczyniać się do rozwoju MDS. Wirusy takie jak HIV czy EBV są wymieniane jako potencjalne czynniki wyzwalające, chociaż związek między infekcjami wirusowymi a MDS pozostaje niejasny i wymaga dalszych badań.12

Podsumowanie czynników etiologicznych MDS

Etiologia zespołu mielodysplastycznego jest złożona i wieloczynnikowa. W większości przypadków MDS powstaje bez jednoznacznie określonej przyczyny, ale zidentyfikowano szereg czynników ryzyka i potencjalnych mechanizmów patogenetycznych:12

  • Czynniki genetyczne – mutacje somatyczne i nieprawidłowości chromosomalne w komórkach szpiku kostnego.
  • Wiek – akumulacja mutacji z wiekiem zwiększa ryzyko rozwoju MDS.
  • Płeć – mężczyźni są bardziej narażeni na rozwój MDS niż kobiety.
  • Wcześniejsze leczenie – chemioterapia i radioterapia zwiększają ryzyko rozwoju wtórnego MDS.
  • Ekspozycja na substancje toksyczne – benzen, pestycydy, metale ciężkie i dym tytoniowy są związane ze zwiększonym ryzykiem MDS.
  • Zespoły genetyczne – rzadkie wrodzone zaburzenia zwiększają ryzyko rozwoju MDS.
  • Choroby autoimmunologiczne – mogą być związane z rozwojem MDS poprzez przewlekłą stymulację immunologiczną.

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Zrozumienie etiologii MDS jest kluczowe dla opracowania skutecznych strategii prewencyjnych, diagnostycznych i terapeutycznych. Postępy w dziedzinie badań genomicznych i molekularnych przyczyniają się do lepszego zrozumienia mechanizmów leżących u podstaw tej złożonej choroby, co może prowadzić do rozwoju nowych, ukierunkowanych terapii w przyszłości.12

Znaczenie kliniczne poznania etiologii MDS

Identyfikacja czynników etiologicznych MDS ma istotne implikacje kliniczne:12

  • Stratyfikacja ryzyka – obecność określonych mutacji i nieprawidłowości chromosomalnych pomaga w ocenie ryzyka progresji choroby i planowaniu leczenia.
  • Personalizacja terapii – profil genetyczny pacjenta może wpływać na wybór optymalnej strategii terapeutycznej.
  • Monitorowanie odpowiedzi na leczenie – zmiany w obrazie genetycznym mogą być wykorzystywane do monitorowania odpowiedzi na terapię.
  • Prewencja – ograniczenie ekspozycji na znane czynniki ryzyka może zmniejszyć ryzyko rozwoju MDS.

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Rozwój nowych systemów prognostycznych, takich jak zrewidowany Międzynarodowy System Prognostyczny (IPSS-R) czy jego wersja uwzględniająca mutacje molekularne (IPSS-M), pozwala na dokładniejszą ocenę rokowania i lepsze planowanie leczenia u pacjentów z MDS.12

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  1. 09.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Myelodysplastic Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK534126/
    Myelodysplastic syndrome (MDS) is a clonal disorder of myeloid stem cells that may occur de novo or secondary to various insults to the bone marrow. […] Various environmental and iatrogenic etiologies have been implicated in MDS, including exposure to chemotherapy (alkylating agents in particular), radiation, or environmental toxins such as benzene. […] The actual preceding factor(s) for de novo MDS is not entirely understood but assumed to occur from an oncogenic process resulting in 1 or more somatic mutations. […] Over recent years, we have gained much insight into mutations commonly altered in MDS due to advances and rapid availability of gene sequencing. […] MDS may be de novo or related to prior use of chemotherapeutic agents, also known as treatment-related MDS (t-MDS). […] This entity is associated with a poor prognosis compared to de novo MDS and typically occurs 5 to 7 years after the use of chemotherapeutic agents.
  • #1 Myelodysplastic Syndromes | Symptoms, Treatments, FAQs | LLS
    https://www.lls.org/myelodysplastic-syndromes/myelodysplastic-syndromes
    Myelodysplastic syndromes (MDS) may be primary or treatment-related. Primary MDS has no obvious cause. Treatment-related MDS has an obvious cause. […] Although in most cases it is not clear what causes the genetic changes that lead to MDS, there are some known risk factors. A risk factor is anything that increases a persons chance of developing a disease. […] The factors that are associated with an increased risk of developing MDS include: Age: Risk increases with age, Sex: Males are more likely than females to develop MDS, Genetic disorders: Certain genetic conditions present at birth seem to increase the risk, Familial risk/germline predisposition, Previous cancer treatment (This is referred to as „secondary” or „treatment-related MDS”), Smoking, Workplace exposure to benzene among agricultural and industrial workers.
  • #1 Myelodysplastic Syndrome (MDS): Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/207347-overview
    Approximately 80% of patients with MDS do not have an obvious exposure or cause for MDS. In these cases, the disorder is classified as primary or idiopathic MDS. […] The World Health Organization (WHO) classifies secondary MDS as MDS or acute leukemia that develops years after known exposure to sources of chromosomal damage. […] Patients who survive cancer treatment with alkylating agents, with or without radiotherapy, have a high risk of developing MDS or secondary acute leukemia 5-7 years after the exposure. […] Secondary MDS after treatment with a topoisomerase II inhibitors such as an anthracycline or etoposide occurs 1-3 years after exposure to these agents. […] MDS may also develop after exposure to certain chemicals (eg, benzene). […] Viral infections have also been implicated.
  • #1 What Causes Myelodysplastic Syndromes? | American Cancer Society
    https://www.cancer.org/cancer/types/myelodysplastic-syndrome/causes-risks-prevention/what-causes.html
    Some myelodysplastic syndromes (MDS) are linked to known risk factors, but most often, the cause of MDS is unknown. […] A lot of progress has been made in understanding how certain changes in the DNA in bone marrow cells may cause MDS to develop. […] Usually, mutations in several different genes inside bone marrow cells are needed before a person develops MDS. Some of the mutations most often seen in MDS cells include those in the DNMT3A, TET2, ASXL1, TP53, RUNX1, SRSF2, and SF3B1 genes. […] Researchers have found the gene changes that cause some rare inherited syndromes that are linked to an increased risk of developing MDS. […] Some outside exposures can lead to MDS by damaging the DNA inside bone marrow cells. […] Gene changes inside cells can build up over a persons lifetime, which might help explain why MDS largely affects older people.
  • #1 Myelodysplastic syndrome – Wikipedia
    https://en.wikipedia.org/wiki/Myelodysplastic_syndrome
    MDS most often develops without an identifiable cause. Risk factors include exposure to an agent known to cause DNA damage, such as radiation, benzene, and certain chemotherapies; other risk factors have been inconsistently reported. […] Proving a connection between a suspected exposure and the development of MDS can be difficult, but the presence of genetic abnormalities may provide some supportive information. […] Secondary MDS can occur as a late toxicity of cancer therapy (therapy associated MDS, t-MDS). […] MDS is thought to arise from mutations in the multipotent bone-marrow stem cell, but the specific defects responsible for these diseases remain poorly understood. […] Hematopoietic stem cell aging is thought to be associated with the accrual of multiple genetic and epigenetic aberrations leading to the suggestion that MDS is, in part, related to an inability to adequately cope with DNA damage.
  • #1 Myelodysplastic syndrome – Wikipedia
    https://en.wikipedia.org/wiki/Myelodysplastic_syndrome
    A myelodysplastic syndrome (MDS) is one of a group of cancers in which blood cells in the bone marrow do not mature, and as a result, do not develop into healthy blood cells. […] Risk factors include previous chemotherapy or radiation therapy, exposure to certain chemicals such as tobacco smoke, pesticides, and benzene, and exposure to heavy metals such as mercury or lead. […] Some people have a history of exposure to chemotherapy (especially alkylating agents such as melphalan, cyclophosphamide, busulfan, and chlorambucil) or radiation (therapeutic or accidental), or both (e.g., at the time of stem cell transplantation for another disease). […] A link may exist between the development of MDS in atomic-bomb survivors 40 to 60 years after radiation exposure. […] GATA2 deficiency and SAMD9/9L syndromes each account for about 15% of MDS cases in children.
  • #1 What is MDS? | MDS Foundation
    https://www.mds-foundation.org/learn/what-is-mds/
    Myelodysplastic syndromes (MDS) are an often unrecognized, under-diagnosed, rare group of bone marrow failure disorders, where the body no longer makes enough healthy, normal blood cells in the bone marrow. […] With a few exceptions, the exact causes of MDS are unknown. Some evidence suggests that certain people are born with a tendency to develop MDS. This tendency can be thought of as a switch that is triggered by an external factor. If the external factor cannot be identified, then the disease is referred to as primary MDS. […] Radiation and chemotherapy for cancer are among the known triggers for the development of MDS. Patients who take chemotherapy drugs or who receive radiation therapy for potentially curable cancers, such as breast or testicular cancers, Hodgkin’s disease and non-Hodgkin’s lymphoma, are at risk of developing MDS for up to 10 years following treatment. MDS that develops after use of cancer chemotherapy or radiation is called secondary MDS and is usually associated with multiple chromosome abnormalities in cells in the bone marrow. This type of MDS often develops rapidly into AML.
  • #1 Myelodysplastic syndromes (MDS) causes | Blood Cancer UK
    https://bloodcancer.org.uk/understanding-blood-cancer/myelodysplastic-syndromes-mds-/what-is-mds/what-causes-mds/
    MDS is caused by changes in the DNA in blood cells. For most people we don’t know why this happens. But we do know there are some risk factors that make it more likely. […] MDS is caused by changes (mutations) in DNA within blood cells. For most people these changes are not inherited. Instead, they happen during a persons lifetime. […] We dont know exactly why these genetic changes happen to some people and not to others. But we do know that there are some things that make people more likely to develop MDS. These are called risk factors. […] While these things do slightly increase the risk of developing MDS, it can happen to anyone and it’s not because of anything you have done. […] For most people with MDS, no specific trigger or cause can be found. […] Previous chemotherapy or radiotherapy treatment may damage the bone marrow and possibly cause MDS. This is called secondary or therapy-related MDS.
  • #1 Myelodysplastic syndromes (MDS) causes | Blood Cancer UK
    https://bloodcancer.org.uk/understanding-blood-cancer/myelodysplastic-syndromes-mds-/what-is-mds/what-causes-mds/
    Very rarely, MDS can be inherited or may develop from another rare genetic disorder. If your doctor thinks your MDS may be inherited, they will refer you to a genetics service to discuss the chances of other family members having it. However, for most people, MDS is not passed down to children and is not an inherited genetic disease. […] Long-term exposure to certain chemicals may increase the risk of MDS. One of these chemicals is benzene, which is found in tobacco smoke.
  • #1 Myelodysplastic Syndrome (MDS): Symptoms, Diagnosis & Treatment
    https://my.clevelandclinic.org/health/diseases/6192-myelodysplastic-syndrome-myelodysplasia
    Myelodysplastic syndrome (also called myelodysplasia or MDS) affects blood stem cells. […] MDS can cause anemia, frequent infections and bleeding that wont stop. […] Some people with MDS develop acute myeloid leukemia. […] MDS is rare. It affects about 4 in 100,000 people in the U.S. each year. […] People seem to develop MDS in one of two ways: They participate in activities that increase their risk of developing the syndrome or they inherit certain conditions. […] Past treatment with chemotherapy or radiation therapy. Healthcare providers may call this therapy-related MDS or tMDS. […] Being exposed to certain carcinogens, including tobacco smoke, pesticides and solvents like benzene. […] Between 4% and 15% of people with this condition have inherited conditions that increase the chance theyll have the disease.
  • #1 Myelodysplastic Syndrome Types and Treatments | UPMC
    https://hillman.upmc.com/cancer-care/blood/types/mds
    MDS is a group of disorders that happen when the bone marrow doesn’t make enough healthy blood cells. […] Common MDS risk factors include: […] Age. People over 60 are at higher risk. It’s rare for people under 40 to get MDS. […] Gender. Men are more prone to MDS than women. […] Smoking. Smoking increases the risk of MDS. […] Cancer treatment. Chemotherapy for a different type of cancer or another blood cancer can lead to MDS. Risk increases when you combine chemo with radiation. […] Environment. Exposure to radiation and benzene increase the risk. […] You’re also at an increased risk of MDS if you have certain genetic diseases such as: […] Diamond Blackfan anemia. […] Familial platelet disorder. […] Fanconi anemia. […] Severe congenital neutropenia. […] Shwachman-Diamond syndrome.
  • #1 Myelodysplastic Syndromes Risk Factors | American Cancer Society
    https://www.cancer.org/cancer/types/myelodysplastic-syndrome/causes-risks-prevention/risk-factors.html
    A risk factor is anything that increases your chance of getting a disease such as cancer. […] There are several known risk factors for myelodysplastic syndromes (MDS). […] MDS is more common in men than in women. The reason for this is not clear, although it might have to do with men having been more likely to smoke or to have been exposed to certain chemicals in the workplace in the past. […] People who have been treated with certain chemotherapy (chemo) drugs or with radiation therapy for cancer are more likely to develop MDS later. When MDS is caused by cancer treatment, it is called secondary MDS or treatment-related MDS. […] Smoking increases the risk of MDS. […] Some environmental exposures have been linked to MDS. […] People with certain inherited syndromes are more likely to develop MDS. […] In some families without these syndromes, MDS occurs more often than would be expected.
  • #1 Myelodysplastic Syndrome (MDS) | Memorial Sloan Kettering Cancer Center
    https://www.mskcc.org/cancer-care/types/myelodysplastic-syndrome
    Myelodysplastic syndromes (MDSs) are a group of similar blood diseases that start in the bone marrow. There are many kinds of myelodysplastic syndrome (MY-eh-loh-dis-PLAS-tik SIN-drome). Its a type of blood cancer where there are abnormal (not normal) cells. Your bone marrow also makes fewer blood cells. […] MDS is caused by problems with hematopoietic stem cells (hee-MA-toh-poy-EH-tik stem sels). These are the immature cells that that grow into all the blood cells in your body. […] Therapy-related MDS is a type of MDS. Its caused by cancer treatment with chemotherapy or radiation therapy. […] MDS starts when one of the stem cells becomes a cancer cell. This cancer cell starts to make copies of itself, sometimes called dysplastic clones. These clones may not be able to make blood cells very well. Or, the blood cells they make may die early. […] Over time, the number of very immature bone marrow cells can grow. These are called blasts. They can fill up the bone marrow, with no room for the normal blood cells and platelets made there. When this growth of blasts is very bad, its called acute leukemia.
  • #1
    https://haematologica.org/article/view/haematol.2023.283661
    The patterns of low-risk myelodysplastic syndrome (MDS) progression and the clinical and molecular features of those patterns have not been well described. […] Risk factors for progression included: male gender, low absolute neutrophil count (ANC), low platelet count, high bone marrow (BM) blasts, ferritin 1000 mcg/L, albumin 3.5 g/dL, multi-lineage dysplasia (MLD), and lack of ring sideroblasts. […] Somatic mutations (SM) associated with an increased risk of direct or indirect AML progression included SRSF2 and NRAS. […] SM associated with progression to higher risk disease only, without AML transformation, were ASXL1, TP53, RUNX1, and CBL. […] The patterns of LR MDS disease progression and causes of mortality are not well delineated in literature. […] The molecular phenotypes associated with different patterns of disease progression and clonal evolution have not been well studied.
  • #1 Myelodysplastic Syndrome (MDS): Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/207347-overview
    Less evidence supports genetic predisposition, but familial incidences have been described. […] Some of the congenital platelet disorders with RUNX1 and GATA2 mutations can predispose to MDS. […] Although familial cases of myelodysplastic syndromes are rare, they are immensely valuable for the investigation of the molecular pathogenesis of myelodysplasia in general. […] A study by Kristinsson et al found that chronic immune stimulation is a trigger for acute leukemia and MDS development.
  • #1 Pathogenesis of myelodysplastic syndromes: an overview of molecular and non-molecular aspects of the disease
    https://pmc.ncbi.nlm.nih.gov/articles/PMC4278002/
    Myelodysplastic syndromes (MDS) are a group of clonal disorders arising from hematopoietic stem cells generally characterized by inefficient hematopoiesis, dysplasia in one or more myeloid cell lineages, and variable degrees of cytopenias. […] Genetic defects (chromosomal aberrations, gene mutations, copy-number alterations, abnormal gene expression) are common in MDS. […] Somatic mutations in multipotent stem cells are believed to contribute to MDS pathogenesis, even though no specific defect has been clearly identified. […] The importance of recurrent mutations resides in their potential clinical applications specifically in prognosis, diagnosis, risk stratification, and treatment response. […] The presence of mutations has been associated with disease phenotypes and response to therapies. […] MDS is a heterogeneous clonal disease with multifactorial causes.
  • #1 Patient education: Myelodysplastic syndromes (MDS) in adults (Beyond the Basics) – UpToDate
    https://www.uptodate.com/contents/myelodysplastic-syndromes-mds-in-adults-beyond-the-basics
    Myelodysplastic syndromes (MDS) are a group of blood disorders associated with abnormal blood cell production. […] In most cases the cause of MDS is unknown, but aging is associated with the accumulation of mutations in genes within bone marrow stem cells. […] A small percentage of people who were treated with chemotherapy or radiation for cancer or other conditions can have stem cell damage, causing a type of MDS called „therapy-related” MDS. […] Chromosome or gene abnormalities in MDS are almost always acquired during a person’s lifetime and thus are unlikely to be passed down to children or grandchildren. […] The prognosis of MDS can be estimated using the revised International Prognostic Scoring System (IPSS-R), or a version that includes genetic (molecular) mutations called the IPSS-M. […] Broadly, the prognostic score can be used to determine if an individual has lower-risk MDS or higher-risk MDS. […] It is important to remember that prognostic scores cannot predict how long a given individual person will survive; they only provide averages of large groups of people.
  • #1 How I Treat Anemia Associated with Lower-Risk Myelodysplastic Syndromes
    https://jhoponline.com/issue-archive/2021-issues/june-2021-vol-11-no-3/how-i-treat-anemia-associated-with-lower-risk-myelodysplastic-syndromes
    Myelodysplastic syndromes (MDS) are a heterogenous group of acquired bone marrow disorders, with a median age of 70 years at diagnosis. The risk factors for primary MDS are not well-established. However, exposure to chemotherapy, such as alkylating agents or topoisomerase II inhibitors, and radiation therapy increases the risk for therapy-related MDS. […] The most frequent among these are chromosome 7 deletion (del 7q) and del 5q, duplication 1q, del 20q, del 11q, del 12p/t(12p), del 17p/iso(17q), del 18q, +21q gains, del 13q, and +der(1;7)(q10;p10). Overall, the treatment choices for patients with MDS are directed by the risk categories from these different prognostic scoring systems. […] The use of iron chelation therapy in patients with iron overload caused by frequent transfusions was recently supported in the TELESTO clinical trial of patients with low-risk or intermediate-1-risk MDS.
  • #2 Myelodysplastic Syndrome (MDS): Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/207347-overview
    Myelodysplastic syndrome (MDS) refers to a heterogeneous group of closely related clonal hematopoietic disorders commonly found in the aging population. All are characterized by one or more peripheral blood cytopenias. […] MDS affects hematopoiesis at the stem cell level, as indicated by cytogenetic abnormalities, molecular mutations, and morphologic and physiologic abnormalities in maturation and differentiation of one or more of the hematopoietic cell lines. […] MDS may involve one, two, or all three myeloid hematopoiesis cell lineageserythrocytic, granulocytic, megakaryocyticdepending on the subtype and stage of the disease. […] The heterogeneity of MDS reflects the fact that its course involves a series of cytogenetic events. […] In a subgroup of patients, the acquisition of additional genetic abnormalities results in the transformation of MDS into acute myeloid leukemia (AML). Thus, although MDS is clonal, it is considered a premalignant condition.
  • #2 What is MDS? | MDS Foundation
    https://www.mds-foundation.org/learn/what-is-mds
    Myelodysplastic syndromes (MDS) are an often unrecognized, under-diagnosed, rare group of bone marrow failure disorders, where the body no longer makes enough healthy, normal blood cells in the bone marrow. The disease is also recognized as a form of blood cancer. […] With a few exceptions, the exact causes of MDS are unknown. Some evidence suggests that certain people are born with a tendency to develop MDS. This tendency can be thought of as a switch that is triggered by an external factor. If the external factor cannot be identified, then the disease is referred to as primary MDS. […] Radiation and chemotherapy for cancer are among the known triggers for the development of MDS. Patients who take chemotherapy drugs or who receive radiation therapy for potentially curable cancers, such as breast or testicular cancers, Hodgkin’s disease and non-Hodgkin’s lymphoma, are at risk of developing MDS for up to 10 years following treatment. MDS that develops after use of cancer chemotherapy or radiation is called secondary MDS and is usually associated with multiple chromosome abnormalities in cells in the bone marrow. This type of MDS often develops rapidly into AML.
  • #2 MDS Causes | Aplastic Anemia and MDS International Foundation (AAMDSIF)
    https://www.aamds.org/mds/causes
    Doctors can’t identify a specific cause in 9 out of 10 MDS cases. These are called “de novo” MDS, meaning arising without a known cause. The remaining Myelodysplastic Syndromes cases result from treatment given for another cancer. Doctors call this Treatment-Related MDS, t-MDS or Secondary MDS. […] The cause of most MDS cases is unknown. Doctors refer to this as de novo MDS. Two known factors can increase the likelihood of getting de novo MDS: People who smoke and People who have been heavily exposed to certain chemicals, such as benzene. […] About 1 out of 10 people with MDS developed it due to treatments they had for other cancers. This is called treatment-related MDS (t-MDS). This form of MDS can be severe and harder to treat than de novo MDS. […] Overall, the chance of developing MDS as a result of another cancer treatment is very low. Less than 1 in 100 people treated for other cancers develop MDS. The risk increases for patients who have had multiple rounds of chemotherapy and radiation therapy or have had a bone marrow transplant.
  • #2 Myelodysplastic Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK534126/
    The mechanism for the development of MDS has been implicated by various genetic and chromosomal abnormalities, which may occur de novo or secondary to 1 of the above etiologies. […] Cytogenetic abnormalities are seen in more than 80% of patients, including translocations or, more commonly, aneuploidy (loss or gain of a chromosome). […] Changes in cytogenetics play a large role in the International Prognostic Scoring System. […] Over 100 somatic point mutations have been implicated in MDS, and there is some overlap with AML. […] These mutations have been shown to correlate with various features. […] Somatic mutations have recently proven to be vital in understanding the underlying pathophysiology of MDS.
  • #2 Myelodysplastic syndromes | Canadian Cancer Society
    https://cancer.ca/en/cancer-information/cancer-types/leukemia/what-is-leukemia/myelodysplastic-syndromes
    Myelodysplastic syndromes (MDSs) are a group of diseases where the bone marrow does not make enough healthy blood cells. Instead the bone marrow makes immature blood cells, called blast cells (blasts), that do not work properly. […] An MDS may be caused by certain genetic conditions, previous cancer treatment or coming into contact with certain chemicals at work. […] People with an MDS often have changes (mutations) in certain chromosomes within the MDS cells. Examples of chromosome changes that are found in MDS cells include: a deletion (loss) of the q-arm in one or more of chromosomes 5, 7 and 20, complete deletion of chromosome 5 or 7, an extra copy of chromosome 8. […] People with an MDS also often have mutations in certain genes within the MDS cells. Examples of gene mutations that are found in MDS cells include: SF3B1, TP53.
  • #2 Pathogenesis of myelodysplastic syndromes: an overview of molecular and non-molecular aspects of the disease
    https://pmc.ncbi.nlm.nih.gov/articles/PMC4278002/
    Myelodysplastic syndromes (MDS) are a group of clonal disorders arising from hematopoietic stem cells generally characterized by inefficient hematopoiesis, dysplasia in one or more myeloid cell lineages, and variable degrees of cytopenias. […] Genetic defects (chromosomal aberrations, gene mutations, copy-number alterations, abnormal gene expression) are common in MDS. […] Somatic mutations in multipotent stem cells are believed to contribute to MDS pathogenesis, even though no specific defect has been clearly identified. […] The importance of recurrent mutations resides in their potential clinical applications specifically in prognosis, diagnosis, risk stratification, and treatment response. […] The presence of mutations has been associated with disease phenotypes and response to therapies. […] MDS is a heterogeneous clonal disease with multifactorial causes.
  • #2 Myelodysplastic Syndrome (MDS): Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/207347-overview
    Approximately 80% of patients with MDS do not have an obvious exposure or cause for MDS. In these cases, the disorder is classified as primary or idiopathic MDS. […] The World Health Organization (WHO) classifies secondary MDS as MDS or acute leukemia that develops years after known exposure to sources of chromosomal damage. […] Patients who survive cancer treatment with alkylating agents, with or without radiotherapy, have a high risk of developing MDS or secondary acute leukemia 5-7 years after the exposure. […] Secondary MDS after treatment with a topoisomerase II inhibitors such as an anthracycline or etoposide occurs 1-3 years after exposure to these agents. […] MDS may also develop after exposure to certain chemicals (eg, benzene). […] Viral infections have also been implicated.
  • #2 Myelodysplastic Syndromes Risk Factors | American Cancer Society
    https://www.cancer.org/cancer/types/myelodysplastic-syndrome/causes-risks-prevention/risk-factors.html
    A risk factor is anything that increases your chance of getting a disease such as cancer. […] There are several known risk factors for myelodysplastic syndromes (MDS). […] MDS is more common in men than in women. The reason for this is not clear, although it might have to do with men having been more likely to smoke or to have been exposed to certain chemicals in the workplace in the past. […] People who have been treated with certain chemotherapy (chemo) drugs or with radiation therapy for cancer are more likely to develop MDS later. When MDS is caused by cancer treatment, it is called secondary MDS or treatment-related MDS. […] Smoking increases the risk of MDS. […] Some environmental exposures have been linked to MDS. […] People with certain inherited syndromes are more likely to develop MDS. […] In some families without these syndromes, MDS occurs more often than would be expected.
  • #2 Myelodysplastic syndrome – Wikipedia
    https://en.wikipedia.org/wiki/Myelodysplastic_syndrome
    A myelodysplastic syndrome (MDS) is one of a group of cancers in which blood cells in the bone marrow do not mature, and as a result, do not develop into healthy blood cells. […] Risk factors include previous chemotherapy or radiation therapy, exposure to certain chemicals such as tobacco smoke, pesticides, and benzene, and exposure to heavy metals such as mercury or lead. […] Some people have a history of exposure to chemotherapy (especially alkylating agents such as melphalan, cyclophosphamide, busulfan, and chlorambucil) or radiation (therapeutic or accidental), or both (e.g., at the time of stem cell transplantation for another disease). […] A link may exist between the development of MDS in atomic-bomb survivors 40 to 60 years after radiation exposure. […] GATA2 deficiency and SAMD9/9L syndromes each account for about 15% of MDS cases in children.
  • #2 Myelodysplastic Syndrome (MDS): Symptoms, Diagnosis & Treatment
    https://my.clevelandclinic.org/health/diseases/6192-myelodysplastic-syndrome-myelodysplasia
    Those conditions include: Fanconi anemia: This is a rare genetic condition where your bone marrow doesnt produce enough healthy blood cells. […] Dyskeratosis congenita: This is another rare genetic condition where your bone marrow doesnt produce enough healthy blood cells. […] Diamond-Blackfan anemia: This is a rare blood disorder that happens when your bone marrow doesnt produce enough red blood cells.
  • #2 Myelodysplastic Syndrome | MD Anderson Cancer Center
    https://www.mdanderson.org/cancer-types/myelodysplastic-syndrome.html
    Myelodysplastic syndrome is a group of diseases in which the bone marrow doesnt produce enough healthy blood cells. Instead, it makes too many immature cells, called blasts. […] Most cases of myelodysplastic syndrome have no known cause, but some factors have been found to increase the risk. […] Risk factors for myelodysplastic syndrome include: Age: MDS rarely occurs in people younger than 60, Smoking tobacco, Long-term exposure to chemicals, including benzene or other chemicals used in the petroleum and rubber industries, Exposure to high levels of radiation, such a nuclear reactor accident or atomic bomb, Prior chemotherapy or radiation therapy, Inherited disorders, including: Fanconi anemia, Shwachman-Diamond syndromes, Familial platelet disorder, Severe congenital neutropenia. […] Some cases of myelodysplastic syndrome can be passed down from one generation to the next.
  • #2 Myelodysplastic Syndrome (MDS) – Brief information
    https://www.gpoh.de/kinderkrebsinfo/content/diseases/leukaemias/myelodysplastic_syndrome_mds/brief_information/index_eng.html
    It has been known for many years that gene alterations that are capable of causing impaired haematopoiesis in the bone marrow (such as Fanconi anaemia, severe congenital neutropenia, dyskeratosis congenita or Diamond-Blackfan anaemia) are also associated with a predisposition for MDS. Over the past years, additional inheritable diseases that play a role have been identified. These include the so-called GATA2 deficiency or the SAMD9/SAMD9L syndrome. Since these congenital diseases are usually associated with an increased cancer risk, they are also known as cancer predisposition syndromes. […] MDS develops differently in older persons. Most adults do not present with congenital impairments, but with gene alterations acquired over decades, which can transform a cell slowly into an MDS or leukaemia cell. Some patients have received chemotherapy or radiation therapy (radiotherapy) for another malignancy prior to the diagnosis of MDS. In those cases. MDS thus represents the secondary disease (secondary MDS), which has at least partially been induced by the treatment of the primary malignancy.
  • #2 MDS Risk Factors | Myelodysplastic Syndromes | Hematology Oncology | University of Michigan Rogel Cancer Center
    https://www.rogelcancercenter.org/myelodysplastic-syndromes/mds-risk-factors
    High-dose radiation exposure (such as surviving an atomic bomb blast or nuclear reactor accident) increases the risk of developing MDS. […] Long-term workplace exposure to benzene and other chemicals used in the petroleum and rubber industries can also increase the risk of developing MDS. […] The risk of MDS increases with age. […] MDS is more common in men.
  • #2 Myelodysplastic syndrome: MedlinePlus Medical EncyclopediaLock
    https://medlineplus.gov/ency/article/007716.htm
    Myelodysplastic syndrome is a group of disorders in which the blood cells produced in the bone marrow do not mature into healthy cells. This leaves you with fewer healthy blood cells in your body. The blood cells that have matured may not function properly. […] The exact cause of MDS is not known. For most cases, there is no known cause. […] Risk factors for MDS include: Certain genetic disorders, Exposure to environmental or industrial chemicals, fertilizers, pesticides, solvents, or heavy metals, Smoking. […] Prior cancer treatment increases the risk for MDS. This is called secondary or treatment-related MDS. […] Certain chemotherapy medicines increase the chance of developing MDS. This is a major risk factor. […] Radiation therapy, when used with chemotherapy, increases the risk for MDS even more. […] People who have stem cell transplants may develop MDS because they also receive high doses of chemotherapy.
  • #2
    https://haematologica.org/article/view/haematol.2023.283661
    The patterns of low-risk myelodysplastic syndrome (MDS) progression and the clinical and molecular features of those patterns have not been well described. […] Risk factors for progression included: male gender, low absolute neutrophil count (ANC), low platelet count, high bone marrow (BM) blasts, ferritin 1000 mcg/L, albumin 3.5 g/dL, multi-lineage dysplasia (MLD), and lack of ring sideroblasts. […] Somatic mutations (SM) associated with an increased risk of direct or indirect AML progression included SRSF2 and NRAS. […] SM associated with progression to higher risk disease only, without AML transformation, were ASXL1, TP53, RUNX1, and CBL. […] The patterns of LR MDS disease progression and causes of mortality are not well delineated in literature. […] The molecular phenotypes associated with different patterns of disease progression and clonal evolution have not been well studied.
  • #2
    https://haematologica.org/article/view/haematol.2023.283661
    Clinical and laboratory risk factors for progression to higher risk or AML included male gender, low absolute neutrophil count (ANC), low platelet count, high BM blasts, ferritin 1000 mcg/L, albumin 3.5 g/dL. […] Pathologic risk factors for progression included multi-lineage dysplasia (MLD) and lack of ring sideroblasts. […] Mutations that were associated with increased risk of progression to AML in our study were SRSF2 and NRAS. […] Mutations associated with progression to higher risk disease only, without AML and/or direct/indirect AML were ASXL1, TP53, RUNX1, and CBL. […] The presence of an ETV6 mutation was associated with progression to HR-MDS but not AML. […] In our study, at a median follow up of 99 months, the median OS for the LR-LR, LR-HR, LR-HR-AML, and LR-AML groups was 80.7, 61.2, 48.3, and 42.8 months, respectively. […] The overall rate of progression to HR-MDS and/or AML was higher than the 8% reported by de Swart et al.
  • #2 What is Myelodysplastic Syndrome (MDS)?
    https://www.healthline.com/health/chronic-myeloid-leukemia/living-with-cml/what-is-a-myelodysplastic-syndrome
    Researchers have also identified more than 100 gene mutations in people with MDS. […] MDS is usually not linked to family history, but some rare types do seem to be more common in families. […] MDS is more common in people with some syndromes that run in families, such as Diamond-Blackfan anemia, dyskeratosis congenita, familial platelet disorder with a propensity to myeloid malignancy, Fanconi anemia, severe congenital neutropenia, Shwachman-Diamond syndrome. […] Some chemotherapy drugs, such as alkylators and topoisomerase II inhibitors, can potentially contribute to the development of MDS 2 to 7 years after exposure. […] People with long-term exposure to some chemicals like benzene may also have a higher chance of developing MDS. […] According to the American Cancer Society, smoking cigarettes also increases your risk of developing MDS. […] Studies have also shown an association between MDS and autoimmune disease.
  • #2 Understanding Myelodysplastic Syndromes: A Comprehensive Guide – Liv Hospital
    https://www.livhospital.com/en/myelodysplastic-syndromes
    Viral Infections: Human immunodeficiency virus (HIV) and EBV are considered among some of the viral infections that could trigger this disease. Nonetheless, the linkage between viral infectious disease and MDS remains elusive and complicated. […] Autoimmune Diseases: This is because some autoimmune diseases like rheumatoid arthritis and lupus are risk factors for MDS development. Autoimmune conditions can also interfere with the immune system’s normal response, thus affecting the bone marrow.
  • #2 Myelodysplastic neoplasms (MDS) – Leukaemia Foundation
    https://www.leukaemia.org.au/blood-cancer/types-of-blood-cancer/myelodysplastic-syndromes/
    Myelodysplastic neoplasms (MDS) are a group of blood cancers which all affect the production of normal blood cells in the bone marrow. MDS occurs as a result of a mutation (or change) in one or more of the genes that control blood cell development. This change or changes results in the abnormal growth of blood stem cells. […] In most cases, there is no specific cause of MDS. MDS is either: primary, or de novo – where there is no known cause; secondary, or treatment-related – where a person diagnosed with MDS has had prior chemotherapy and/or radiation therapy. Only 5-10% of people with MDS have treatment-related disease. […] There are some factors that may increase the risk of developing MDS: Ageing – the risk of developing genetic mutations increases with age; Exposure to high levels of some environmental chemicals, especially benzene and petroleum products; Exposure to chemicals in tobacco smoke; People previously treated for cancer or other conditions with chemotherapy are at an increased risk of developing what is called secondary or treatment related MDS; Previous radiation therapy, or accidental exposure to high levels of environmental irradiation; People with certain congenital disorders such as Bloom’s Syndrome, Down’s Syndrome, Fanconi anaemia and neurofibromatosis can have unstable genes. They are more at risk of developing mutations that cause MDS.
  • #2 Myelodysplastic Syndromes (MDS): Treatment, Symptoms & More
    https://www.verywellhealth.com/what-are-myelodysplastic-syndromes-mds-2252548
    Myelodysplastic syndromes (MDS) are a group of bone marrow diseases. The cause of MDS is not known. About 90% of the time, there is no obvious cause of the disease. Some possible risk factors that impact whether someone will get MDS include: Age: The median age of diagnosis is 70, although MDS has been seen even in young children. Ionizing radiation: This includes radiation treatments for cancer or exposure to radiation from atomic bombs and nuclear accidents. Chemical exposures: Exposure to some organic chemicals, heavy metals, fertilizers, pesticides, and herbicides raises the risk of the disease. Tobacco smoke. Diesel exhaust. In most patients, MDS seems to develop suddenly for no known reason. This is called primary or de novo MDS. Scientists are not sure what causes primary MDS. Secondary MDS means the disease follows previous treatment with chemotherapy or radiation therapy. […] Scientists continue to learn more about genetics and how these diseases develop. They are also learning more about risks and the outcomes of these diseases. Researchers can use this information to create new and more effective therapies for MDS.
  • #2 Myelodysplastic Syndromes > Fact Sheets > Yale Medicine
    https://www.yalemedicine.org/conditions/myelodysplastic-syndromes
    Myelodysplastic syndromes are actually a group of cancers that occur when the blood-producing cells in the bone marrow begin to function abnormally, producing too few healthy, mature blood cells. […] Genetic mutations, chromosomal abnormalities and external environmental factors may lead to the development of myelodysplastic syndromes. […] Several factors are known to cause myelodysplastic syndromes. About half of them are due to chromosomal abnormalities. Some cases are caused by genetic mutations, which may or may not be inherited. Still others are related to chemical exposures that have altered an individuals DNA, leading to illness. […] Other times, someone may have been exposed to chemotherapeutic agents during prior cancer treatment, which is known to increase risk of myelodysplastic syndromes.
  • #2 How I Treat Anemia Associated with Lower-Risk Myelodysplastic Syndromes
    https://jhoponline.com/issue-archive/2021-issues/june-2021-vol-11-no-3/how-i-treat-anemia-associated-with-lower-risk-myelodysplastic-syndromes
    Myelodysplastic syndromes (MDS) are a heterogenous group of acquired bone marrow disorders, with a median age of 70 years at diagnosis. The risk factors for primary MDS are not well-established. However, exposure to chemotherapy, such as alkylating agents or topoisomerase II inhibitors, and radiation therapy increases the risk for therapy-related MDS. […] The most frequent among these are chromosome 7 deletion (del 7q) and del 5q, duplication 1q, del 20q, del 11q, del 12p/t(12p), del 17p/iso(17q), del 18q, +21q gains, del 13q, and +der(1;7)(q10;p10). Overall, the treatment choices for patients with MDS are directed by the risk categories from these different prognostic scoring systems. […] The use of iron chelation therapy in patients with iron overload caused by frequent transfusions was recently supported in the TELESTO clinical trial of patients with low-risk or intermediate-1-risk MDS.
  • #3 What is Myelodysplastic Syndrome (MDS)?
    https://www.healthline.com/health/chronic-myeloid-leukemia/living-with-cml/what-is-a-myelodysplastic-syndrome
    Myelodysplastic syndrome (MDS) is a rare group of blood cancers that causes the abnormal development of blood cells in the bone marrow, producing too many immature or defective blood cells that crowd out healthy white blood cells, red blood cells, and platelets. […] It’s still widely unknown what causes MDS, but it’s thought that genetic factors and exposure to certain chemicals could play a role. […] When the cause isn’t known, it’s referred to as idiopathic or primary MDS. When environmental factors are suspected, it’s referred to as secondary MDS. […] Various genetic abnormalities may contribute to the development of MDS. More than 80 percent of people with MDS have changes in their genes, such as: missing chromosomes, extra chromosomes, translocations, where a chromosome breaks and attaches itself to another chromosome.
  • #3 Myelodysplastic Syndrome (MDS) | Memorial Sloan Kettering Cancer Center
    https://www.mskcc.org/cancer-care/types/myelodysplastic-syndrome
    Myelodysplastic syndromes (MDSs) are a group of similar blood diseases that start in the bone marrow. There are many kinds of myelodysplastic syndrome (MY-eh-loh-dis-PLAS-tik SIN-drome). Its a type of blood cancer where there are abnormal (not normal) cells. Your bone marrow also makes fewer blood cells. […] MDS is caused by problems with hematopoietic stem cells (hee-MA-toh-poy-EH-tik stem sels). These are the immature cells that that grow into all the blood cells in your body. […] Therapy-related MDS is a type of MDS. Its caused by cancer treatment with chemotherapy or radiation therapy. […] MDS starts when one of the stem cells becomes a cancer cell. This cancer cell starts to make copies of itself, sometimes called dysplastic clones. These clones may not be able to make blood cells very well. Or, the blood cells they make may die early. […] Over time, the number of very immature bone marrow cells can grow. These are called blasts. They can fill up the bone marrow, with no room for the normal blood cells and platelets made there. When this growth of blasts is very bad, its called acute leukemia.
  • #3 Myelodysplastic neoplasms (MDS) – Leukaemia Foundation
    https://www.leukaemia.org.au/blood-cancer/types-of-blood-cancer/myelodysplastic-syndromes/
    Myelodysplastic neoplasms (MDS) are a group of blood cancers which all affect the production of normal blood cells in the bone marrow. MDS occurs as a result of a mutation (or change) in one or more of the genes that control blood cell development. This change or changes results in the abnormal growth of blood stem cells. […] In most cases, there is no specific cause of MDS. MDS is either: primary, or de novo – where there is no known cause; secondary, or treatment-related – where a person diagnosed with MDS has had prior chemotherapy and/or radiation therapy. Only 5-10% of people with MDS have treatment-related disease. […] There are some factors that may increase the risk of developing MDS: Ageing – the risk of developing genetic mutations increases with age; Exposure to high levels of some environmental chemicals, especially benzene and petroleum products; Exposure to chemicals in tobacco smoke; People previously treated for cancer or other conditions with chemotherapy are at an increased risk of developing what is called secondary or treatment related MDS; Previous radiation therapy, or accidental exposure to high levels of environmental irradiation; People with certain congenital disorders such as Bloom’s Syndrome, Down’s Syndrome, Fanconi anaemia and neurofibromatosis can have unstable genes. They are more at risk of developing mutations that cause MDS.
  • #3 Myelodysplastic Syndrome (MDS) – Brief information
    https://www.gpoh.de/kinderkrebsinfo/content/diseases/leukaemias/myelodysplastic_syndrome_mds/brief_information/index_eng.html
    It has been known for many years that gene alterations that are capable of causing impaired haematopoiesis in the bone marrow (such as Fanconi anaemia, severe congenital neutropenia, dyskeratosis congenita or Diamond-Blackfan anaemia) are also associated with a predisposition for MDS. Over the past years, additional inheritable diseases that play a role have been identified. These include the so-called GATA2 deficiency or the SAMD9/SAMD9L syndrome. Since these congenital diseases are usually associated with an increased cancer risk, they are also known as cancer predisposition syndromes. […] MDS develops differently in older persons. Most adults do not present with congenital impairments, but with gene alterations acquired over decades, which can transform a cell slowly into an MDS or leukaemia cell. Some patients have received chemotherapy or radiation therapy (radiotherapy) for another malignancy prior to the diagnosis of MDS. In those cases. MDS thus represents the secondary disease (secondary MDS), which has at least partially been induced by the treatment of the primary malignancy.
  • #3 Myelodysplastic syndrome
    https://www.ucsfhealth.org/medical-tests/myelodysplastic-syndrome
    Myelodysplastic syndrome (MDS) is a form of cancer. […] The exact cause of MDS is not known. For most cases, there is no known cause. […] Risk factors for MDS include: Certain genetic disorders, Exposure to environmental or industrial chemicals, fertilizers, pesticides, solvents, or heavy metals, Smoking. […] Prior cancer treatment increases the risk for MDS. This is called secondary or treatment-related MDS. […] Certain chemotherapy medicines increase the chance of developing MDS. This is a major risk factor. […] MDS usually occurs in adults age 60 years and older. It is more common in men.
  • #3 Understanding Myelodysplastic Syndromes: A Comprehensive Guide – Liv Hospital
    https://www.livhospital.com/en/myelodysplastic-syndromes
    Viral Infections: Human immunodeficiency virus (HIV) and EBV are considered among some of the viral infections that could trigger this disease. Nonetheless, the linkage between viral infectious disease and MDS remains elusive and complicated. […] Autoimmune Diseases: This is because some autoimmune diseases like rheumatoid arthritis and lupus are risk factors for MDS development. Autoimmune conditions can also interfere with the immune system’s normal response, thus affecting the bone marrow.
  • #3 Myelodysplastic Syndrome | MD Anderson Cancer Center
    https://www.mdanderson.org/cancer-types/myelodysplastic-syndrome.html
    Myelodysplastic syndrome is a group of diseases in which the bone marrow doesnt produce enough healthy blood cells. Instead, it makes too many immature cells, called blasts. […] Most cases of myelodysplastic syndrome have no known cause, but some factors have been found to increase the risk. […] Risk factors for myelodysplastic syndrome include: Age: MDS rarely occurs in people younger than 60, Smoking tobacco, Long-term exposure to chemicals, including benzene or other chemicals used in the petroleum and rubber industries, Exposure to high levels of radiation, such a nuclear reactor accident or atomic bomb, Prior chemotherapy or radiation therapy, Inherited disorders, including: Fanconi anemia, Shwachman-Diamond syndromes, Familial platelet disorder, Severe congenital neutropenia. […] Some cases of myelodysplastic syndrome can be passed down from one generation to the next.
  • #4 Myelodysplastic Syndrome | MD Anderson Cancer Center
    https://www.mdanderson.org/cancer-types/myelodysplastic-syndrome.html
    Myelodysplastic syndrome is a group of diseases in which the bone marrow doesnt produce enough healthy blood cells. Instead, it makes too many immature cells, called blasts. […] Most cases of myelodysplastic syndrome have no known cause, but some factors have been found to increase the risk. […] Risk factors for myelodysplastic syndrome include: Age: MDS rarely occurs in people younger than 60, Smoking tobacco, Long-term exposure to chemicals, including benzene or other chemicals used in the petroleum and rubber industries, Exposure to high levels of radiation, such a nuclear reactor accident or atomic bomb, Prior chemotherapy or radiation therapy, Inherited disorders, including: Fanconi anemia, Shwachman-Diamond syndromes, Familial platelet disorder, Severe congenital neutropenia. […] Some cases of myelodysplastic syndrome can be passed down from one generation to the next.

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Międzynarodowy System Prognostyczny promieniowanie jonizujące niedokrwistość Diamond-Blackfana mutacja genetyczna anemia Fanconiego zespół Shwachmana-Diamonda mutacja somatyczna uszkodzenie DNA zespół mielodysplastyczny toczeń rumieniowaty układowy transformacja białaczkowa stymulacja immunologiczna nowotwór układu krwiotwórczego delecja chromosomowa radioterapia hematopoeza cytopenia inhibitor topoizomerazy dyskeratoza wrodzona lek alkilujący trisomia ostra białaczka szpikowa nieprawidłowość chromosomalna reumatoidalne zapalenie stawów