Triplication of 1q in a Patient with Myelodysplastic Syndrome

Abstract

Triplication of 1q is a very rare chromosomal abnormality in hematologic malignancies, and it has been related to Fanconi anemia. The clinical significance of this abnormality is unknown. We report here on a 55-year-old female patient who had myelodysplastic syndrome (refractory anemia with excess blasts) with triplication of 1q and trisomy 8 as the clonal cytogenetic abnormalities, as determined by bone marrow cytogenetic analysis. However, there were no clinical manifestations of Fanconi anemia or any chromosomal instability according to the peripheral blood chromosomal breakage testing. The patient developed early gastric carcinoma (poorly differentiated adenocarcinoma with a signet ring cell component) eight months later. She continuously had pancytopenia with dysplastic features, but this showed no evidence of evolving to leukemia or any relapse of the gastric carcinoma over a 2 year follow up.

Down syndrome associated childhood myeloid leukemia with yet unreported acquired chromosomal abnormalities and a new potential adverse marker: dup(1)(q25q44)

“…The long arm of chromosome 1 accommodates genes involved in the control of normal myeloid cell kinetics. Several interesting genes map in this region 1q, including IL6RA and BCL2 -related are located at 1q21, MNDA (1q22), CENPR (1q32-q41), and TP53BP2 (1q42.1~q42.2) [ 25 ].…”

Rare cytogenetic abnormalities in MDS evolving from fanconi anemia-A case report

“…Cells with chromosome triplication are considered to have evolved from a previous duplication. 8,9 The consequence of this is a genomic amplification of a specific chromosomal region. The long arm of chromosome 1 accomodates genes involved in the control of normal myeloid cell kinetics.…”

“…The imbalance in normal cell cycle leads to more pronounced cell proliferation. 9 The proteins encoded by FA genes play important role in numerous cellular functions including DNA repair, detoxification of reactive oxygen species and aldehydes, energy metabolism and both proinflammatory and myelosuppressive cytokine homeostasis. The exposure of FA deficient cells to aldehydes result in the accumulation chromosomal aberrations.…”