Сhromosome 1q and 3q Gains in Bone Marrow of a Patient with Fanconi Anemia: Their Clinical and Pathogenetic Significance

Chromosome copy number changes, also known as aneuploidy, is a ubiquitous feature of cancer cell genome.DNA sequencing studies of the tumor cells have shown that the aneuploidy patterns are nonrandom, and specific chromosome gains occur quite frequently, thus, probably, playing an oncogene-like role in tumor development.It is well known that certain copy number changes, such as 1q gain, are of predictive value in many tumor types.It has been recently shown that the 1q gain is associated with increased expression of the MDM4 oncogene located at 1q32 which is responsible for the downregulation of TP53 gene in Fanconi anemia and clonal hematopoiesis development. Case presentationHere we present a rare case of Fanconi anemia in a 31-year-old Syrian male patient at the early stage of MDS/AML transformation.His bone marrow cells showed 1q and 3q gains combined with severely suppressed TP53 gene expression, along with low WT1 and BAALC gene expression. ConclusionSince acquisition of additional 1q/MDM4 copies is common to many solid tumors and oncohematological diseases is considered a reliable marker predictive of cancer progression, this molecular feature needs further indepth study.