PMID- 23568725 OWN - NLM STAT- MEDLINE DCOM- 20130723 LR - 20130409 IS - 1003-9406 (Print) IS - 1003-9406 (Linking) VI - 30 IP - 2 DP - 2013 Apr TI - [Clinical and laboratory investigation of pericentric inv(9)(p22q34) with the der(9)t(9;22)(q34;q11) in Ph-positive leukemia]. PG - 157-60 LID - 10.3760/cma.j.issn.1003-9406.2013.04.007 [doi] AB - OBJECTIVE: To investigate clinical and molecule genetics features of four Ph-positive leukemia patients characterized by pericentric inv(9)(p22q34) with the der(9)t(9;22)(q34;q11). METHODS: Cytogenetic analysis was carried out on bone marrow directly or after short-period culture. R banding was used for karyotype analysis. BCR/ABL fusion gene was detected with interphase fluorescence in situ hybridization (FISH), and chromosome painting was carried out using specific probes. RT-PCR was used to detect BCR/ABL chimeric transcripts. RESULTS: One patient with acute myeloid leukemia (AML) presented three clones, which included one with a normal karyotype, one with t(9;22)(q34;q11), and one with inv(9)(p22q34) involving the der(9)t(9;22) and additional t(8;12)(q12;p11). The inv(9)(p22q34) has always co-occurred with der(9)t(9;22)(q34;q11) accompanied by der(22)t(9;22)(q34;q11) in all metaphases from the three patients with chronic myeloid leukemia (CML). B3a2 transcript was detected in all patients by RT-PCR. Inv(9)(p22q34) was found in both CML and AML, and was associated with poor prognosis. CONCLUSION: Inv(9)(p22q34) is a novel, rare, but recurrent secondary chromosomal abnormality for Ph-positive leukemia. Leukemia with der(9)t(9;22) and inv(9)(p22q34) has unique clinical and laboratory characteristics. FAU - Fan, Yisun AU - Fan Y AD - Department of Clinical Laboratory, Suzhou Kowloon Hospital, Shanghai Jiao Tong University Medical School, P.R. China. FAU - Ding, Shuang-shuang AU - Ding SS FAU - Pan, Jin-lan AU - Pan JL FAU - Xue, Yong-quan AU - Xue YQ FAU - Hu, Zhen-hua AU - Hu ZH LA - chi PT - English Abstract PT - Journal Article PL - China TA - Zhonghua Yi Xue Yi Chuan Xue Za Zhi JT - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics JID - 9425197 SB - IM MH - Adult MH - *Chromosome Inversion MH - *Chromosomes, Human, Pair 22 MH - *Chromosomes, Human, Pair 9 MH - Female MH - Humans MH - Leukemia, Myelogenous, Chronic, BCR-ABL Positive/*genetics MH - Leukemia, Myeloid, Acute/*genetics MH - Male MH - Middle Aged MH - *Translocation, Genetic EDAT- 2013/04/10 06:00 MHDA- 2013/07/24 06:00 CRDT- 2013/04/10 06:00 PHST- 2013/04/10 06:00 [entrez] PHST- 2013/04/10 06:00 [pubmed] PHST- 2013/07/24 06:00 [medline] AID - 940630037 [pii] AID - 10.3760/cma.j.issn.1003-9406.2013.04.007 [doi] PST - ppublish SO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Apr;30(2):157-60. doi: 10.3760/cma.j.issn.1003-9406.2013.04.007.