PMID- 21156255
OWN - NLM
STAT- MEDLINE
DCOM- 20110104
LR  - 20101215
IS  - 1873-4456 (Electronic)
IS  - 0165-4608 (Linking)
VI  - 203
IP  - 2
DP  - 2010 Dec
TI  - A pericentric inv(9)(p22q34) of the der(9)t(9;22)(q34;q11.2) is a recurrent 
      secondary anomaly in Ph-positive leukemia.
PG  - 333-40
LID - 10.1016/j.cancergencyto.2010.05.009 [doi]
AB  - A pericentric inv(9)(p22q34) of the derivative chromosome 9 that resulted from a 
      standard t(9;22)(q34;q11.2) was identified by R-banding karyotypic analysis and 
      fluorescence in situ hybridization (FISH) assays in 4 (0.18%) of 2,200 
      Philadelphia chromosome (Ph)-positive leukemia patients, including 3 with chronic 
      myeloid leukemia (CML) in chronic phase and 1 with acute myeloid leukemia (AML) 
      in our hospital since 2004. All four patients had two malignant clones: one with 
      only t(9;22)(q34;q11.2) and another with der(9)t(9;22)(q34;q11.2)inv(9)(p22q34) 
      that resulted in the separation of the ABL1/BCR fusion gene. No metaphases with 
      only inv(9)(p22q34) were seen in any of them. FISH also found a deletion of 
      partial sequence of BCR on der(9)t(9;22)(q34;q11.2)inv(9)(p22q34) in 67.5% of 
      bone marrow cells in the AML patient, but did not detect the deletion of the 
      sequence of ASS/9q34 in these four patients. Reverse transcriptase-polymerase 
      chain reaction revealed a b3a2 type of BCR/ABL1 fusion transcript in all of them, 
      proving their disease to be Ph-positive leukemia. On reviewing the literature, 
      only two solitary Ph-positive leukemia patients have been noticed to have the 
      inv(9)(p22q34) anomaly. These two patients, together with our four documented 
      patients, indicate that inv(9)(p22q34) is a novel, rare, but recurrent secondary 
      chromosomal abnormality for Ph-positive leukemia. Despite receiving hydroxyurea 
      therapy (n = 3 patients), combined chemotherapy (n = 2), even imatinib treatment 
      (n = 1), three patients, including one with AML and two with CML (one of whom 
      progressed into the lymphoblastic blast phase), died with survival times of 28 
      days, 13 months, and 34 months, respectively. Only one patient with CML remained 
      alive for 5.5 months. Their negative outcome implies that inv(9)(p22q34) has an 
      unfavorable impact on prognosis. Presently, no firm conclusions can be drawn from 
      this study. Because the case number reported here is very small, more patients 
      with this anomaly need to be investigated to elucidate its true prognostic 
      significance.
CI  - Copyright (c) 2010 Elsevier Inc. All rights reserved.
FAU - Pan, Jinlan
AU  - Pan J
AD  - The First Affiliated Hospital of Soochow University, Jiangsu Institute of 
      Hematology, Key Laboratory of Thrombosis and Hemostasis, 188 Shizi Street, Suzhou 
      215006, PR China.
FAU - Xue, Yongquan
AU  - Xue Y
FAU - Qiu, Huiying
AU  - Qiu H
FAU - Chen, Suning
AU  - Chen S
FAU - Zhang, Jun
AU  - Zhang J
FAU - Wu, Yafang
AU  - Wu Y
FAU - Shen, Juan
AU  - Shen J
FAU - Wang, Yong
AU  - Wang Y
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
SB  - IM
MH  - Adult
MH  - Bone Marrow Cells/cytology
MH  - Chromosome Aberrations
MH  - *Chromosome Inversion
MH  - *Chromosomes, Human, Pair 22
MH  - *Chromosomes, Human, Pair 9
MH  - Disease Progression
MH  - Female
MH  - Gene Deletion
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Leukemia, Myelogenous, Chronic, BCR-ABL Positive/*genetics
MH  - Male
MH  - Middle Aged
MH  - Prognosis
MH  - Reverse Transcriptase Polymerase Chain Reaction
EDAT- 2010/12/16 06:00
MHDA- 2011/01/05 06:00
CRDT- 2010/12/16 06:00
PHST- 2009/09/01 00:00 [received]
PHST- 2010/04/12 00:00 [revised]
PHST- 2010/05/13 00:00 [accepted]
PHST- 2010/12/16 06:00 [entrez]
PHST- 2010/12/16 06:00 [pubmed]
PHST- 2011/01/05 06:00 [medline]
AID - S0165-4608(10)00224-4 [pii]
AID - 10.1016/j.cancergencyto.2010.05.009 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2010 Dec;203(2):333-40. doi: 
      10.1016/j.cancergencyto.2010.05.009.