Shuang Qin

A new complex variant t(4;15;17) in acute promyelocytic leukemia: fluorescence in situ hybridization confirmation and literature review

We report a 37-year-old male with acute promyelocytic leukemia (APL) harboring a complex translocation (4;15;17). Karyotypic analysis with R-banding of bone marrow cells revealed 46,XY,t(4;15;17)(q21;q22;q21). Fluorescence in situ hybridization analysis using painting probes for chromosomes 4, 15 and 17 and reverse transcriptase polymerase chain reaction analysis revealed three derivative chromosomes: der(4)t(4;15)(q21;q22), der(15)t(4;15;17)(q21;q22;q21), and del(17)(q21q22). This is the third report of such a translocation and the first confirmed by molecular methods. Considering reported similar cases, it is possible that 4q21 is a nonrandom breakpoint in APL with complex translocations and the gene involved in 4q21 should be investigated.

[Clinical and laboratory investigation of patients with hematologic malignancies harboring der(1;7)(q10;p10)].

OBJECTIVE To investigate the clinical and laboratory characteristics of patients with various hematological malignancies harboring der(1;7)(q10;p10). METHODS Bone marrow samples were collected and undergone short-time unstimulated culture and R-banding, and karyotyped by conventional cytogenetic assay (CCA). Megalokaryocytes were detected by streptavidin-AKP (SAP). Retrospective analyses including the clinical and laboratory data were performed. RESULTS Nineteen of the 21 patients were male. Most of the patients are of older age. Thirteen cases (61.9%) were der(1;7)(q10;p10) without additional aberrations, 8(38.1%) patients had additional aberrations. Sixteen out of the 18 cases (88.9%) who underwent SAP analysis had diminutive megalokaryocyte, and lymphoid megalokaryocyte was found in 10 cases (55.6%). The der(1;7) patients manifested poor response to treatment. CONCLUSION The der(1;7) patients demonstrated distinct male predominance, older age at diagnosis, and some clinically distinctive features. These patients showed poor prognosis. The cytogenetic abnormality, i.e., der(1;7)(q10;p10), can be used as a prognostic indicator.