PMID- 16213363
OWN - NLM
STAT- MEDLINE
DCOM- 20051125
LR  - 20071115
IS  - 0165-4608 (Print)
IS  - 0165-4608 (Linking)
VI  - 162
IP  - 2
DP  - 2005 Oct 15
TI  - ABL1 amplification in T-cell acute lymphoblastic leukemia.
PG  - 146-50
AB  - ABL1 amplification, due to a cryptic episomal translocation NUP214/ABL1, is a 
      novel finding in T-cell acute lymphoblastic leukemia (ALL). Here we report on the 
      incidence and clinical features of this genetic defect in a series of 30 
      consecutive adult T-cell ALL patients. Multiple copies of the ABL1 gene were 
      detected in two patients (6.6%), one with the karyotype 
      46,XY,t(1;3)(p36;p21),del(6)(q23)/46,XY and the other without analyzable 
      metaphases. Metaphase/interphase fluorescence in situ hybridization (FISH) 
      detected multiple uncountable signals corresponding to ABL1 in mitotic cells and 
      nuclei from both patients. In one patient, no signals corresponded with the 9p21 
      chromosomal region, which contains the p16INK4a gene, and in the other one signal 
      was observed. Quantitative reverse-transcriptase polymerase chain reaction 
      (RT-PCR) demonstrated that in these patients ABL1 gene expression was 14- and 
      18-fold greater than in normal controls, and returned to normal levels only when 
      complete remission was achieved. We reached the following conclusions: (1) FISH 
      is the only technique that promptly identifies T-cell ALL patients with ABL1 
      amplification, (2) quick identification with FISH is fundamental in the clinic 
      because this T-cell ALL subset is imatinib sensitive but may become resistant due 
      to development of additional mutations, and (3) ABL1 quantitative RT-PCR may be 
      easily applied to monitor minimal residual disease.
FAU - Bernasconi, Paolo
AU  - Bernasconi P
AD  - Division of Hematology, IRCCS Policlinico San Matteo, University of Pavia, 
      Piazzale Golgi No. 5, 27100 Pavia, Italy. p.bernasconi@smatteo.pv.it
FAU - Calatroni, Silvia
AU  - Calatroni S
FAU - Giardini, Ilaria
AU  - Giardini I
FAU - Inzoli, Alessandro
AU  - Inzoli A
FAU - Castagnola, Carlo
AU  - Castagnola C
FAU - Cavigliano, Paola Maria
AU  - Cavigliano PM
FAU - Rocca, Barbara
AU  - Rocca B
FAU - Boni, Marina
AU  - Boni M
FAU - Quarna, Jessica
AU  - Quarna J
FAU - Zappatore, Rita
AU  - Zappatore R
FAU - Caresana, Marilena
AU  - Caresana M
FAU - Bianchessi, Clara
AU  - Bianchessi C
FAU - Pallavicini, Enrico Bobbio
AU  - Pallavicini EB
FAU - Lazzarino, Mario
AU  - Lazzarino M
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  - Aged
MH  - Child
MH  - Gene Amplification
MH  - *Genes, abl
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Leukemia-Lymphoma, Adult T-Cell/*genetics
MH  - Male
MH  - Neoplasm, Residual/diagnosis/genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
EDAT- 2005/10/11 09:00
MHDA- 2005/12/13 09:00
CRDT- 2005/10/11 09:00
PHST- 2004/12/30 00:00 [received]
PHST- 2005/03/28 00:00 [revised]
PHST- 2005/04/07 00:00 [accepted]
PHST- 2005/10/11 09:00 [pubmed]
PHST- 2005/12/13 09:00 [medline]
PHST- 2005/10/11 09:00 [entrez]
AID - S0165-4608(05)00205-0 [pii]
AID - 10.1016/j.cancergencyto.2005.04.002 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2005 Oct 15;162(2):146-50. doi: 
      10.1016/j.cancergencyto.2005.04.002.