PMID- 11972529
OWN - NLM
STAT- MEDLINE
DCOM- 20020701
LR  - 20190705
IS  - 0007-1048 (Print)
IS  - 0007-1048 (Linking)
VI  - 117
IP  - 2
DP  - 2002 May
TI  - Translocations of 14q32 and deletions of 13q14 are common chromosomal 
      abnormalities in systemic amyloidosis.
PG  - 427-35
AB  - Systemic monoclonal immunoglobulin light chain amyloidosis (AL) is associated 
      with clonal plasma cell dyscrasias that are often subtle and non-proliferating. 
      AL shares numerical chromosomal changes with multiple myeloma (MM) and monoclonal 
      gammopathy of undetermined significance (MGUS). Illegitimate translocations 
      involving the immunoglobulin heavy chain gene (IGH) at 14q32 and deletions of the 
      long arm of chromosome 13, [del(13q)], commonly occur in MM, MGUS and plasma cell 
      leukaemia. In AL IGH rearrangements have been identified but, to date, there are 
      no reports of del(13q). In this study of 32 patients with AL, 24 with systemic 
      and eight with localized disease, translocations involving IGH and del(13q) were 
      found using dual-colour interphase fluorescence in situ hybridization (FISH). IGH 
      translocations were observed in 11 patients (37% overall and in 46% with systemic 
      disease), of which nine had the IGH/CCND1 fusion from t(11;14)(q13;q32). Two 
      showed IGH translocations other than the t(11;14) or t(4;14)(p16;q32). In one of 
      these patients a breakpoint within the constant region of IGH between Calpha1 and 
      Calpha2 was indicated. In the second a deletion covering Calpha1 and Calpha2 
      accompanied the translocation. Ten patients (27% overall and 33% of those with 
      systemic disease) showed del(13q). The gain or loss of IGH and CCND1 signals 
      provided evidence of numerical chromosomal changes in three patients.
FAU - Harrison, Christine J
AU  - Harrison CJ
AD  - Department of Haematology, Royal Free and University College Medical School, 
      London, UK. harrison@soton.ac.uk
FAU - Mazzullo, Helen
AU  - Mazzullo H
FAU - Ross, Fiona M
AU  - Ross FM
FAU - Cheung, Kan L
AU  - Cheung KL
FAU - Gerrard, Gareth
AU  - Gerrard G
FAU - Harewood, Louise
AU  - Harewood L
FAU - Mehta, Atul
AU  - Mehta A
FAU - Lachmann, Helen J
AU  - Lachmann HJ
FAU - Hawkins, Philip N
AU  - Hawkins PN
FAU - Orchard, Kim H
AU  - Orchard KH
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Br J Haematol
JT  - British journal of haematology
JID - 0372544
SB  - IM
MH  - Adult
MH  - Aged
MH  - Amyloidosis/*genetics
MH  - *Chromosomes, Human, Pair 13
MH  - *Chromosomes, Human, Pair 14
MH  - Female
MH  - *Gene Deletion
MH  - *Genes, Immunoglobulin
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Middle Aged
MH  - *Translocation, Genetic
EDAT- 2002/04/26 10:00
MHDA- 2002/07/02 10:01
CRDT- 2002/04/26 10:00
PHST- 2002/04/26 10:00 [pubmed]
PHST- 2002/07/02 10:01 [medline]
PHST- 2002/04/26 10:00 [entrez]
AID - 3438 [pii]
AID - 10.1046/j.1365-2141.2002.03438.x [doi]
PST - ppublish
SO  - Br J Haematol. 2002 May;117(2):427-35. doi: 10.1046/j.1365-2141.2002.03438.x.