PMID- 10629588
OWN - NLM
STAT- MEDLINE
DCOM- 20000414
LR  - 20071115
IS  - 0390-6078 (Print)
IS  - 0390-6078 (Linking)
VI  - 85
IP  - 1
DP  - 2000 Jan
TI  - Two cases of myeloid disorders and a t(8;12) (q12;p13).
PG  - 31-4
AB  - BACKGROUND AND OBJECTIVE: Rearrangements of the short arm of chromosome 12 have 
      been described in different hematologic malignancies. Some of these abnormalities 
      showed a rearrangement of the ETV6 gene. We studied the 12p region in one case 
      with a t(8;12)(q12;p13) by fluorescence in situ hybridization (FISH). DESIGN AND 
      METHODS: We have identified a chromosome translocation, t(8;12)(q12;p13) in two 
      patients with myeloid disorders; one with acute myelogenous leukemia (AML) and 
      one with refractory anemia (RA). FISH studies with specific probes (cosmids and 
      YACs) for the 12p region were used to investigate one case. RESULTS: FISH studies 
      demonstrated hemizygous loss of the ETV6 and CDKN1B regions and two copies of the 
      CCDN2 locus, as a result of the balanced translocation and an additional copy of 
      the der(8). INTERPRETATION AND CONCLUSIONS: Myeloid diseases with 
      t(8;12)(q12;p13) have an interstitial deletion of 12p, including the ETV6 and 
      CDKN1B regions. A duplication of CCDN2 locus can also be found.
FAU - Hernandez, J M
AU  - Hernandez JM
AD  - Servicio de Hematologia, Hospital Universitario de Salamanca, Paseo San Vicente 
      58-182, 37007 Salamanca, Spain. jmhernandez@aehh.org.
FAU - Gonzalez, M B
AU  - Gonzalez MB
FAU - Garcia, J L
AU  - Garcia JL
FAU - Ferro, M T
AU  - Ferro MT
FAU - Gutierrez, N C
AU  - Gutierrez NC
FAU - Marynen, P
AU  - Marynen P
FAU - San Miguel, J F
AU  - San Miguel JF
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Italy
TA  - Haematologica
JT  - Haematologica
JID - 0417435
SB  - IM
MH  - Aged
MH  - Anemia, Refractory/*genetics
MH  - *Chromosomes, Human, Pair 12/genetics
MH  - *Chromosomes, Human, Pair 8/genetics
MH  - Fatal Outcome
MH  - Gene Deletion
MH  - Gene Duplication
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Leukemia, Myeloid, Acute/*genetics
MH  - Male
MH  - Translocation, Genetic/*genetics
EDAT- 2000/01/12 09:00
MHDA- 2000/04/25 09:00
CRDT- 2000/01/12 09:00
PHST- 2000/01/12 09:00 [pubmed]
PHST- 2000/04/25 09:00 [medline]
PHST- 2000/01/12 09:00 [entrez]
PST - ppublish
SO  - Haematologica. 2000 Jan;85(1):31-4.