PMID- 15363120 OWN - NLM STAT- MEDLINE DCOM- 20050126 LR - 20161018 IS - 1009-2137 (Print) IS - 1009-2137 (Linking) VI - 12 IP - 4 DP - 2004 Aug TI - Coexistence of tetrasomy 8 and trisomy 8 in acute promyelocytic leukemia (AML-M3) with t(15;17)(q22;q12). PG - 406-10 AB - This study was purposed to characterize the first case of acute promyelocitic leukemia (AML-M(3a)) with t(15;17), trisomy 8 and tetrasomy 8, and explore its characteristics of morphology, cytogenetics, molecular biology, immunology and clinical features. Morphological changes of peripheral blood and bone marrow smears were observed under microscope. Chromosome specimen was prepared by 24 h short-term culture of bone marrow cell, RHG-banding technique was used for karyotypic analysis. PML-RARa fusion gene transcript was detected by nested-reverse transcription-polymerase chain reaction (nested RT-PCR). Interphase fluorescence in situ hybridization (FISH) using chromosome 8 centromere specific probe were carried out to detect abnormal numbers of chromosome 8. Immunophenotypic analysis was performed by flow cytometry. The results showed that peripheral blood smear revealed 65% promyelocyte, and bone marrow aspirate was hypercellular with 72.4% promyelocyte, moderately basophilic cytoplasm with numerous azurophilic granules. Karyotype analysis demonstrated 48, XY, +8, +8, t(15;17)(q22;q12) [16]/47, XY, +8, t(15;17)(q22;q12) [3]/46, XY, t(15;17)(q22;q12) [1]. RT-PCR assay revealed PML-RARa fusion gene transcript (+). FISH showed that the percentages of cells exhibiting 1, 2, 3, 4, 5, 6 green fluorescence signals were 0.5, 7, 19, 55, 18 and 0.5, respectively. This confirmed the presence of tetrasomy 8 and trisomy 8 and also revealed a low percentage of a pentasomy 8 clone. Immunophenotypes of the blasts displayed that CD13 (96.2%), CD33 (55.9%), CYMPO (93.5%) were positive. All the lymphoid markers tested were negative. The patient survival time was just 10 days. It is concluded that tetrasomy 8 is secondary cytogenetic event after t(15;17) in this case. It may be a consequence of clonal evolution of trisomy 8. t(15;17) AML-M(3) with tetrasomy 8 heralds a poor prognosis. FAU - Wang, Hui-Ping AU - Wang HP AD - Department of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan 030001, China. FAU - Li, Guo-Xia AU - Li GX FAU - Qiao, Zhen-Hua AU - Qiao ZH FAU - Ren, Wen-Ying AU - Ren WY FAU - Wang, Hong-Wei AU - Wang HW LA - eng PT - Journal Article PL - China TA - Zhongguo Shi Yan Xue Ye Xue Za Zhi JT - Zhongguo shi yan xue ye xue za zhi JID - 101084424 RN - 0 (Neoplasm Proteins) RN - 0 (Oncogene Proteins, Fusion) RN - 0 (RNA, Messenger) RN - 0 (promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein) SB - IM MH - *Chromosomes, Human, Pair 15 MH - *Chromosomes, Human, Pair 17 MH - *Chromosomes, Human, Pair 8 MH - Humans MH - In Situ Hybridization, Fluorescence MH - Leukemia, Promyelocytic, Acute/*genetics MH - Male MH - Middle Aged MH - Neoplasm Proteins/*genetics MH - Oncogene Proteins, Fusion/*genetics MH - RNA, Messenger/analysis MH - *Translocation, Genetic MH - *Trisomy EDAT- 2004/09/15 05:00 MHDA- 2005/01/27 09:00 CRDT- 2004/09/15 05:00 PHST- 2004/09/15 05:00 [pubmed] PHST- 2005/01/27 09:00 [medline] PHST- 2004/09/15 05:00 [entrez] AID - 1009-2137(2004)04-0406-05 [pii] PST - ppublish SO - Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2004 Aug;12(4):406-10.