Myelodysplastic Syndrome
Autoszomális domináns · Overall, MDS is diagnosed in about 4 in 100,000 people a year in the United States, rising to 25 in 100,000 in people aged 65 and over. Most cases are not inherited.
Myelodysplastic syndromes, now also called myelodysplastic neoplasms, are blood cancers in which abnormal bone marrow cells produce too few healthy blood cells, with a risk of progressing to acute myeloid leukaemia. Most are linked to older age or past chemotherapy or radiation, not to an inherited change. In a minority, one changed copy of a predisposition gene is inherited or arises new. One changed copy of GATA2 leads to a very high lifetime risk of MDS and acute myeloid leukaemia, and ERG was recently described as a dominant predisposition gene for low blood counts and blood cancers.
Tünetek és jelek
Symptoms come from low blood counts: tiredness and breathlessness from anaemia, infections from low white cells, and bruising or bleeding from low platelets. Acquired MDS usually appears around age 70. Inherited forms tend to start earlier: GATA2 deficiency can also cause severe infections, lymphoedema and lung problems, though MDS may be the first sign, and people with germline ERG changes have developed low blood counts and blood cancers before age 40.
Mit változtat a diagnózis
Treatment depends on the type and risk of MDS and ranges from supportive care such as transfusions to drug treatment and, for some people, a stem cell transplant. In GATA2 deficiency a stem cell transplant is the only curative option. An inherited cause matters for choosing a donor, since relatives being considered should be checked for the same change. It is passed on in an autosomal dominant way, so each child of a carrier has a 1 in 2 chance of inheriting it, and relatives can be tested.
Más néven
dysmyelopoietic syndrome; hematopoeitic - myelodysplastic syndrome (MDS); MDS; MDS, unclassifiable; MDS-U; myelodysplasia; myelodysplastic neoplasm; myelodysplastic syndrome, somatic; myelodysplastic syndrome, unclassifiable; myelodysplastic syndrome/neoplasm; oligoblastic leukaemia; oligoblastic leukemia; preleukemia; smoldering leukemia; smouldering leukaemia
15 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- aregenerative anemia
- childhood myelodysplastic syndrome
- congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
- familial monosomy 7 syndrome
- monosomy 7 myelodysplasia and leukemia syndrome 1
- monosomy 7 myelodysplasia and leukemia syndrome 2
- myelodysplastic syndrome associated with isolated del(5q)
- myelodysplastic syndrome with excess blasts
- myelodysplastic syndrome with excess blasts-1
- myelodysplastic syndrome with excess blasts-2
- myelodysplastic syndrome with multilineage dysplasia
- myelodysplastic syndrome with ring sideroblasts
- myelodysplastic syndrome with single lineage dysplasia
- refractory anemia with excess blasts in transformation
- refractory cytopenia of childhood
