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Spectrum of complex chromosomal aberrations in a myelodysplastic syndrome and a brief review

1 MGM Center for Genetic Research and Diagnosis, MGM New Bombay Hospital, Navi Mumbai, Maharashtra, India
2 Department of Hematology, NRS Medical College, Kolkata, India
3 Department of Pediatrics, MGM Medical College, Navi Mumbai, Maharashtra, India

Correspondence Address:
Bani Bandana Ganguly,
MGM Center for Genetic Research and Diagnosis, MGM New Bombay Hospital, Vashi Sector 3, Navi Mumbai - 400 703, Maharashtra
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Source of Support: None, Conflict of Interest: None

Myelodysplastic syndrome (MDS) is a heterogeneous premalignant condition characterized by cytopenia, ineffective hematopoiesis, dysplastic marrow, and risk of progression to acute myeloid leukemia. Cytogenetic abnormalities, including del(3q/5q/7q/11q/12p/20q), monosomy 5/7, trisomy 8/19, i(17q), and -Y, are the indicators of diagnosis and risk stratification. The present case with bicytopenia detected with highly complex chromosome rearrangements with variability in numerical and structural combinations. Chromosome analysis was carried out following unstimulated marrow culture and G-banding. In addition to known MDS-aberrations, der(9p), der(12) dic(12;?19), +15, −18, and ring and marker chromosomes were recorded having, at least, nine abnormal chromosomes/cell. To our knowledge, this is the first case with all MDS-aberrations in one single individual. The case has been discussed in relevance to current MDS research. In the present case, i(17q)/-17, der(12p), del(5q26), del(7q36), and del(20q11) indicate possible alterations in TP53, ETV6, IDH2, EZH2, and SRSF2 genes, which are responsible for pathomechanism, genetic instability, clonal evolution, and advancement of disease condition.

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