Abnormal FISH in patients with immunoglobulin light chain amyloidosis is a risk factor for cardiac involvement and for death.
Importance of interphase fluorescent in situ hybridization (FISH) with cytoplasmic staining of immunoglobulin FISH (cIg-FISH) on bone marrow is not well understood in light chain amyloidosis (AL). This is in contrast with multiple myeloma where prognostic and treatment related decisions are dependent on cytogenetic testing. This retrospective study reviewed 401 AL patients with cIg-FISH testing performed at our institution between 2004 and 2012. Eighty-one percent of patients had an abnormal cIg-FISH. Common abnormalities involved translocations of chromosome 14q32 (52%), specifically: t(11;14) (43%), t(14;16) (3%) and t(4;14) (2%). Other common abnormalities include monosomy 13/deletion 13q (30%), trisomies 9 (20%), 15 (14%), 11 (10%) and 3 (10%). Median overall survival for this cohort of patients is 3.5 years. When plasma cell burden was greater than 10% trisomies predicted for worse survival (44 vs 19 months), and when it was ⩽10% t(11;14) predicted for worse survival (53 months vs not reached). Abnormal cIg-FISH was significantly associated with advanced cardiac involvement, and remained a prognostic factor on multivariate analysis. This large AL cohort demonstrates that abnormal FISH at diagnosis is prognostic for survival and advanced cardiac disease. Particularly, trisomies and t(11;14) affect survival when degree of plasma cell burden is considered.
Division of Hematology and Department of Pathology, Mayo Clinic, Rochester, MN, USA.
R
R
Warsame
Division of Hematology and Department of Pathology, Mayo Clinic, Rochester, MN, USA.
S K
SK
Kumar
Division of Hematology and Department of Pathology, Mayo Clinic, Rochester, MN, USA.
M A
MA
Gertz
Division of Hematology and Department of Pathology, Mayo Clinic, Rochester, MN, USA.
M Q
MQ
Lacy
Division of Hematology and Department of Pathology, Mayo Clinic, Rochester, MN, USA.
F K
FK
Buadi
Division of Hematology and Department of Pathology, Mayo Clinic, Rochester, MN, USA.
S R
SR
Hayman
Division of Hematology and Department of Pathology, Mayo Clinic, Rochester, MN, USA.
N
N
Leung
Division of Hematology and Department of Pathology, Mayo Clinic, Rochester, MN, USA.
D
D
Dingli
Division of Hematology and Department of Pathology, Mayo Clinic, Rochester, MN, USA.
J A
JA
Lust
Division of Hematology and Department of Pathology, Mayo Clinic, Rochester, MN, USA.
R P
RP
Ketterling
Division of Hematology and Department of Pathology, Mayo Clinic, Rochester, MN, USA.
Y
Y
Lin
Division of Hematology and Department of Pathology, Mayo Clinic, Rochester, MN, USA.
S
S
Russell
Division of Hematology and Department of Pathology, Mayo Clinic, Rochester, MN, USA.
L
L
Hwa
Division of Hematology and Department of Pathology, Mayo Clinic, Rochester, MN, USA.
P
P
Kapoor
Division of Hematology and Department of Pathology, Mayo Clinic, Rochester, MN, USA.
R S
RS
Go
Division of Hematology and Department of Pathology, Mayo Clinic, Rochester, MN, USA.
S R
SR
Zeldenrust
Division of Hematology and Department of Pathology, Mayo Clinic, Rochester, MN, USA.
R A
RA
Kyle
Division of Hematology and Department of Pathology, Mayo Clinic, Rochester, MN, USA.
S V
SV
Rajkumar
Division of Hematology and Department of Pathology, Mayo Clinic, Rochester, MN, USA.
A
A
Dispenzieri
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000686:Amyloidosis / Q000235:genetics* / Q000401:mortality / Q000473:pathology*; D002869:Chromosome Aberrations; D005260:Female; D006331:Heart Diseases / Q000209:etiology; D006801:Humans; D007147:Immunoglobulin Light Chains; D017404:In Situ Hybridization, Fluorescence; D053208:Kaplan-Meier Estimate; D008297:Male; D008875:Middle Aged; D016016:Proportional Hazards Models; D012189:Retrospective Studies; D012307:Risk Factors
D007147:Immunoglobulin Light Chains