Myelodysplastic Disorders, 5q-Syndrome
نویسنده
چکیده
The myelodysplastic syndromes (MDSs) are characterized by ineffective erythropoie‐ sis and progressive cytopenia and ultimately affected patients develop acute myeloid leukemia (AML) or die from advanced bone marrow (BM) failure. Myelodysplastic syndrome (MDS) with isolated del (5q) is a common type of MDS with specific pathological and clinical manifestations including refractory anemia. It is usually treated by (1) supportive measures including blood transfusions that may cause iron overload that requires iron chelation therapy, (2) targeted therapies such as the immunomodulatory drug lenalidomide, and (3) hematopoietic stem cell transplanta‐ tion (HSCT) in transplant eligible individuals. The establishment of the various prognostic systems, the discovery of the new genetic mutations, and the identification of new targets, in MDSs in general and in 5q-syndrome in particular, will hopefully translate into more pinpointed targeted therapies that will further improve the outcomes of patients having these disorders.
منابع مشابه
Targeted re-sequencing analysis of 25 genes commonly mutated in myeloid disorders in del(5q) myelodysplastic syndromes.
Interstitial deletion of chromosome 5q is the most common chromosomal abnormality in myelodysplastic syndromes. The catalogue of genes involved in the molecular pathogenesis of myelodysplastic syndromes is rapidly expanding and next-generation sequencing technology allows detection of these mutations at great depth. Here we describe the design, validation and application of a targeted next-gene...
متن کاملRibosomopathies: human disorders of ribosome dysfunction.
Ribosomopathies compose a collection of disorders in which genetic abnormalities cause impaired ribosome biogenesis and function, resulting in specific clinical phenotypes. Congenital mutations in RPS19 and other genes encoding ribosomal proteins cause Diamond-Blackfan anemia, a disorder characterized by hypoplastic, macrocytic anemia. Mutations in other genes required for normal ribosome bioge...
متن کاملDifferential Expression of MicroRNAs in CD34+ Cells of 5q- Syndrome
BACKGROUND Myelodysplastic syndrome with isolated chromosome 5q deletion (5q- syndrome) is a clonal stem cell disorder characterized by ineffective hematopoiesis. MicroRNAs (miRNAs) are important regulators of hematopoiesis and their aberrant expression was detected in some clonal hematopoietic disorders. We thus analyzed miRNA expressions in bone marrow CD34+ cells of 5q- syndrome patients. Fu...
متن کاملCorrelation of clinical response and response duration with miR-145 induction by lenalidomide in CD34(+) cells from patients with del(5q) myelodysplastic syndrome.
We examined whether lenalidomide exposure up-regulates miRNAs and mRNAs, previously shown to play a role in the disease phenotype of del(5q) myelodysplastic syndrome, in pre-treatment CD34(+) marrow cells. We hypothesized that increased expression would predict for clinical response. Changes in miR-143, miR-145, miR-146a, miR-146b, miR-378, miR-584, SPARC and RPS14 were examined in del(5q) (n=1...
متن کاملComplete Remission of del(5q) Myelodysplastic Syndrome after 7 Days of Lenalidomide Therapy Gives an Alert!
Myelodysplastic syndrome (MDS) refers to a group of haematological, monoclonal disorders. A 50-year-old woman was diagnosed with MDS 5q deletion syndrome [del(5q)], becoming dependent on blood transfusion after long-term treatment with cytotoxic drugs for chronic scleritis. Lenalidomide therapy (10 mg/day) led to profound pancytopaenia, followed by recovery of her blood cell counts. A cytogenet...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره شماره
صفحات -
تاریخ انتشار 2018