title: [Clinical and laboratory investigation of pericentric inv(9)(p22q34) with the der(9)t(9;22)(q34;q11) in Ph-positive leukemia].
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Clinical Laboratory, Suzhou Kowloon Hospital, Shanghai Jiao Tong University Medical School, P.R. China.
authors.forename: Yisun
authors.initials: Y
authors.lastname: Fan
authors.forename: Shuang-shuang
authors.initials: SS
authors.lastname: Ding
authors.forename: Jin-lan
authors.initials: JL
authors.lastname: Pan
authors.forename: Yong-quan
authors.initials: YQ
authors.lastname: Xue
authors.forename: Zhen-hua
authors.initials: ZH
authors.lastname: Hu
mesh_terms: D000328:Adult; D007446:Chromosome Inversion; D002892:Chromosomes, Human, Pair 22; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D014178:Translocation, Genetic