3p21 is a recurrent treatment-related breakpoint in myelodysplastic syndrome and acute myeloid leukemia

Abstract

In this study we report 11 cases with chromosome abnormalities involving 3p21. Nine cases were diagnosed as myelodysplastic syndrome (MDS), and two as acute myeloid leukemia (AML). Six of nine MDS cases were secondary to a primary malignant disease. In two patients, AML was secondary to breast cancer and polycythemia vera (PV). Seven of eleven patients had a history of intensive polychemotherapy and/or radiation therapy for 3.5 to 5 years. The mean interval from initial therapy to secondary disease was 13.2 years. Complex chromosomal aberrations were found in all 11 cases. Band 3p21 was involved in translocations in 9 patients and in deletions in 2 patients. A t(3;16)(p21;pl3) was found in two cases. Additional abnormalities frequently included a –5, –7, as well as deletions or rearrangements of these 2 chromosomes. Data reported in this paper suggest that 3p21 is a recurrent treatment-related breakpoint in MDS and AML and is likely to contain a gene involved in the pathogenesis of this disease.

Dual-specificity phosphatase Pyst2-L is constitutively highly expressed in myeloid leukemia and other malignant cells

“…The Pyst2-L gene is located on the 3p21 chromosomal region. Aberrations within this area have been previously described to occur in various types of malignancies (Shi et al, 1996;Johnson et al, 2000;Sano et al, 2000). However, the results presented above showed that no aberration, amplification or point mutations occurred in the Pyst2-L DNA of leukemic cells.…”

Deletion of chromosome arm 3p in hematologic malignancies

“…[35][36][37][38][39][40] The finding that the 3p deletions in both AML and MDS frequently occurred together with del(5q) and frequencies in the chronic lymphoproliferative disorders and the lymphomas than in the chronic myeloid disorders and the monosomies for chromosomes 5 and 7 -well known therapyassociated abnormalities in these disorders 26 -provides acute leukemias. In general, the incidences of 3p deletions did not differ among the morphologic subgroups of the hemafurther evidence in favor of 3p loss as a treatment-related abnormality.…”

Co-existence of isodicentric Ph chromosomes and the three-way Ph chromosome variant t(3;9;22)(p21;q34;q11) in a rare case of chronic myeloid leukemia

“…Overexpression of H37/Luca15/RBM5 has been demonstrated to result in cell cycle arrest and apoptosis in human lung carcinoma (22). Deletions or translocations involving 3p21 have been linked to acute leukemia, myelodysplastic syndrome and solid tumor types, including small cell lung and renal cell carcinomas (21,23,24).…”