PMID- 12461754
OWN - NLM
STAT- MEDLINE
DCOM- 20030117
LR  - 20061115
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 36
IP  - 1
DP  - 2003 Jan
TI  - Delineation of the minimal region of loss at 13q14 in multiple myeloma.
PG  - 99-106
AB  - Previous studies have focused on the incidence and prognostic implications of 
      13q14 deletions in multiple myeloma (MM), but none has sought to delineate the 
      minimal common deleted region (CDR). In an effort to do so, dual-color interphase 
      fluorescence in situ hybridization (FISH) was applied on 82 myeloma cases, 
      initially by use of three probes for 13q14 (RB1, D13S319, and D13S25). Deletions 
      were detected in 29/82 (35.4%) cases, and all except one were monoallelic. 
      Subsequently, contiguous YACs, PACs, and a BAC spanning the 13q14-q21 region were 
      employed for deletion mapping in addition to a 13q telomere probe. Large 
      deletions extending to the 13q34 region were found in 55% of the deleted cases, 
      whereas an additional 13.8% showed loss of both 13q34 and 13q14 regions with 
      retention of 13q21. A CDR of approximately 350 kb was identified at 13q14 with 
      the proximal border approximately 120 kb centromeric from D13S319, encompassing 
      an area rich in expressed sequence tagged sites and containing DLEU1, DLEU2, and 
      RFP2 genes. Direct sequencing of the RFP2 gene revealed no mutations in six 
      patients and four MM cell lines harboring deletions of the CDR. However, a role 
      for RFP2 in the pathogenesis of MM cannot yet be excluded, given that alternative 
      mechanisms such as haploinsufficiency remain possible.
CI  - Copyright 2002 Wiley-Liss, Inc.
FAU - Elnenaei, Manal O
AU  - Elnenaei MO
AD  - Department of Academic Haematology and Cytogenetics, The Institute of Cancer 
      Research and Royal Marsden NHS Trust, London, United Kingdom.
FAU - Hamoudi, Rifat A
AU  - Hamoudi RA
FAU - Swansbury, John
AU  - Swansbury J
FAU - Gruszka-Westwood, Alicja M
AU  - Gruszka-Westwood AM
FAU - Brito-Babapulle, Vasantha
AU  - Brito-Babapulle V
FAU - Matutes, Estella
AU  - Matutes E
FAU - Catovsky, Daniel
AU  - Catovsky D
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (DNA Probes)
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - *Chromosome Deletion
MH  - *Chromosome Mapping/methods
MH  - Chromosomes, Human, Pair 13/*genetics
MH  - DNA Probes/genetics
MH  - Female
MH  - Genetic Markers/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Middle Aged
MH  - Multiple Myeloma/*genetics
MH  - Tumor Cells, Cultured
EDAT- 2002/12/04 04:00
MHDA- 2003/01/18 04:00
CRDT- 2002/12/04 04:00
PHST- 2002/12/04 04:00 [pubmed]
PHST- 2003/01/18 04:00 [medline]
PHST- 2002/12/04 04:00 [entrez]
AID - 10.1002/gcc.10140 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2003 Jan;36(1):99-106. doi: 10.1002/gcc.10140.