Özet:

Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are clonal myeloid disorders that have both dysplastic and proliferative features.  Pathophysiology of MDS/MPN includes abnormalities in regulation of myeloid pathways. Patients with MDS/MPN do not have BCR/ABL fusion gene. Abnormalities in regulation of the race pathway of signaling proteins appear to be a common finding in these diseases.  In this study we present a MDS/MPN case with complex cytogenetics. By Real Time-PCR (RT-PCR), BCR/ABL p210 transcript (MBCR) was negative, and by allele-specfic PCR, JAK2 V617F mutation was positive. By cytogenetics, a complex caryotype was observed with, idic (18)(p11.2), t(11;idic(18))(p11.1;q11) and dic(11;18)(q24;p11) which were formed through clonal evolution. The results included different rearrangements and partial gain of chromosome 18. Rearrangements involving chromosomes 11 and 18 have been previously in hematological malignities but with different breakpoints from ours. Trisomy/partal trisomy 18 had been in lymphoproliferative disorders and MDS. The genes on chromosome 18 considered important, as they are associated with carcinogenesis.  Bcl-2 family, whose members are important apoptosis regulators, is localized on the long arm of chromosome 18.

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