Translocations involving the immunoglobulin heavy-chain locus are possible early genetic events in patients with primary systemic amyloidosis

Suzanne R. Hayman, Richard J. Bailey, Syed M. Jalal, Gregory J. Ahmann, Angela Dispenzieri, Morie Gertz, Philip R. Greipp, Robert A. Kyle, Martha Lacy, S Vincent Rajkumar, Thomas Elmer Witzig, John A. Lust, Rafael Fonseca

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Abstract

Primary systemic amyloidosis (AL) is a plasma cell (PC) dyscrasia with clinical similarities to multiple myeloma (MM) and monoclonal gammopathy of undetermined significance (MGUS), but its molecular basis is poorly understood. Translocations at the immunoglobulin heavy-chain (IgH) locus, 14q32, are likely early genetic events in both MM and MGUS and involve several nonrandom, recurrent, partner chromosomes such as 11q13, 16q23, and 4p16.3. Given the similarities between MM, MGUS, and AL, bone marrow clonal PCs were evaluated in 29 patients with AL using interphase fluorescence in situ hybridization (FISH) combined with immunofluorescence detection of the cytoplasmic light-chain (cig-FISH) for the presence of 14q32 translocations and the t(11;14)(q13;q32). Of 29 patients studied, 21 (72.4%) showed results compatible with the presence of a 14q32 translocation, and 16 (76.2%) of those had translocation (11;14)(q13;q32) for an overall prevalence of the abnormality of 55%. IgH translocations are common in AL, especially the t(11;14)(q13;q32).

Original languageEnglish (US)
Pages (from-to)2266-2268
Number of pages3
JournalBlood
Volume98
Issue number7
DOIs
StatePublished - Oct 1 2001

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Monoclonal Gammopathy of Undetermined Significance
Immunoglobulin Heavy Chains
Amyloidosis
Multiple Myeloma
Fluorescence
Fluorescence In Situ Hybridization
Chromosomes
Bone
Paraproteinemias
Interphase
Plasmas
Fluorescent Antibody Technique
Bone Marrow
Light
Primary amyloidosis

ASJC Scopus subject areas

  • Hematology

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Translocations involving the immunoglobulin heavy-chain locus are possible early genetic events in patients with primary systemic amyloidosis. / Hayman, Suzanne R.; Bailey, Richard J.; Jalal, Syed M.; Ahmann, Gregory J.; Dispenzieri, Angela; Gertz, Morie; Greipp, Philip R.; Kyle, Robert A.; Lacy, Martha; Rajkumar, S Vincent; Witzig, Thomas Elmer; Lust, John A.; Fonseca, Rafael.

In: Blood, Vol. 98, No. 7, 01.10.2001, p. 2266-2268.

Research output: Contribution to journalArticle

Hayman, Suzanne R. ; Bailey, Richard J. ; Jalal, Syed M. ; Ahmann, Gregory J. ; Dispenzieri, Angela ; Gertz, Morie ; Greipp, Philip R. ; Kyle, Robert A. ; Lacy, Martha ; Rajkumar, S Vincent ; Witzig, Thomas Elmer ; Lust, John A. ; Fonseca, Rafael. / Translocations involving the immunoglobulin heavy-chain locus are possible early genetic events in patients with primary systemic amyloidosis. In: Blood. 2001 ; Vol. 98, No. 7. pp. 2266-2268.
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abstract = "Primary systemic amyloidosis (AL) is a plasma cell (PC) dyscrasia with clinical similarities to multiple myeloma (MM) and monoclonal gammopathy of undetermined significance (MGUS), but its molecular basis is poorly understood. Translocations at the immunoglobulin heavy-chain (IgH) locus, 14q32, are likely early genetic events in both MM and MGUS and involve several nonrandom, recurrent, partner chromosomes such as 11q13, 16q23, and 4p16.3. Given the similarities between MM, MGUS, and AL, bone marrow clonal PCs were evaluated in 29 patients with AL using interphase fluorescence in situ hybridization (FISH) combined with immunofluorescence detection of the cytoplasmic light-chain (cig-FISH) for the presence of 14q32 translocations and the t(11;14)(q13;q32). Of 29 patients studied, 21 (72.4{\%}) showed results compatible with the presence of a 14q32 translocation, and 16 (76.2{\%}) of those had translocation (11;14)(q13;q32) for an overall prevalence of the abnormality of 55{\%}. IgH translocations are common in AL, especially the t(11;14)(q13;q32).",
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