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Blood, 1 October 2001, Vol. 98, No. 7, pp. 2266-2268
BRIEF REPORT
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 A. Gertz,
Philip R. Greipp,
Robert A. Kyle,
Martha Q. Lacy,
S. Vincent Rajkumar,
Thomas E. Witzig,
John A. Lust, and
Rafael Fonseca
From the Departments of Hematology and Internal
Medicine and of Laboratory Medicine and Pathology, Mayo Clinic,
Rochester, MN.
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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