Clonal evolution in primary 5q- syndrome

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چکیده

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Unusual clonal evolution involving 5q in a case of myelodysplastic syndrome with deletion 5q 31 treated with lenalidomide.

Lenalidomide is a very active drug in myelodysplastic syndrome with del (5q). We report such a patient treated with this drug who developed unusual complex cytogenetic abnormalities, which were elucidated by multi-FISH and FISH analysis as jumping translocations involving the long arm of chromosome 5, that resulted in an increase of 5q copies. This unusual findings is discussed in the context o...

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Myelodysplastic syndromes (MDS) with isolated deletion of chromosome arm 5q (del(5q)) have a good prognosis with low risk of transformation to acute myeloid leukemia (AML). Laboratory investigations typically demonstrate macrocytic anemia with preserved or increased platelet counts, and characteristic hypolobated megakaryocytes in the marrow (Figure 1A). Recent studies have provided significant...

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The 5q- syndrome is the most distinct of all the myelodysplastic syndromes with a clear genotype/phenotype relationship. The significant progress made during recent years has been based on the determination of the commonly deleted region and the demonstration of haploinsufficiency for the ribosomal gene RPS14. The functional screening of all the genes in the commonly deleted region determined t...

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The 5q- syndrome is a distinct hematological disorder with typical laboratory, morphological, cytogenetic, molecular, and prognostic features. It is defined as a myelodysplastic syndrome with a medullary blast count <5% and an isolated interstitial deletion of the long arm of chromosome 5, including bands q31-q33. The molecular basis of this disease has not yet been fully elucidated, but there ...

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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...

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ژورنال

عنوان ژورنال: Cancer

سال: 1992

ISSN: 0008-543X,1097-0142

DOI: 10.1002/1097-0142(19920701)70:1<100::aid-cncr2820700116>3.0.co;2-f