Chromosomal abnormalities in systemic amyloidosis

Rafael Fonseca, Gregory J. Ahmann, Syed M. Jalal, Gordon W. Dewald, Dirk R. Larson, Terry M Therneau, Morie Gertz, Robert A. Kyle, Philip R. Greipp

Research output: Contribution to journalArticle

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Abstract

Primary systemic amyloidosis (AL) is a plasma cell disorder characterized by deposition of monoclonal light chains in different organ systems. Although multiple and complex numerical chromosomal abnormalities have been described in patients with multiple myeloma, it is currently unknown whether such changes occur in systemic amyloidosis. Bone marrow samples from 21 patients with AL were studied by standard cytogenetics and interphase fluorescence in situ hybridization (FISH) for the presence of numerical chromosomal abnormalities. We tested for six chromosomes (7, 11, 9, 15, 18 and X) using centromere-specific probes. The monoclonal plasma cells were identified by simultaneous fluorescent staining of the monotypic cytoplasmic immunoglobulin. We compared these results with those obtained from 19 patients with monoclonal gammopathy of undetermined significance (MGUS) and normal controls. Multiple numerical chromosomal abnormalities were detected in AL by interphase FISH, including trisomy of chromosomes 7 (42%), 9 (52%), 11 (47%), 15 (39%), 18 (33%) and X (13% in women and 54% in men). Monosomy of chromosome 18 was seen in 72% of cases. Previous exposure to alkylator therapy did not appear to correlate with these abnormalities. No significant difference was observed in the prevalence of these abnormalities between AL and MGUS. Multiple chromosomal numerical abnormalities were detected by interphase FISH analysis in patients with AL, especially monosomy of chromosome 18. Aneuploidy in the monotypic plasma supports a neoplastic nature for the disorder.

Original languageEnglish (US)
Pages (from-to)704-710
Number of pages7
JournalBritish Journal of Haematology
Volume103
Issue number3
DOIs
StatePublished - 1998

Fingerprint

Amyloidosis
Chromosome Aberrations
Interphase
Fluorescence In Situ Hybridization
Monoclonal Gammopathy of Undetermined Significance
Chromosomes, Human, Pair 18
Monosomy
Chromosomes, Human, Pair 7
Plasma Cells
Chromosomes, Human, Pair 11
Centromere
Alkylating Agents
Trisomy
Aneuploidy
Multiple Myeloma
Cytogenetics
Immunoglobulins
Bone Marrow
Staining and Labeling
Light

Keywords

  • Amyloidosis
  • Benign
  • Chromosome abnormalities
  • Monoclonal gammopathies
  • Multiple myeloma
  • Paraproteinaemias

ASJC Scopus subject areas

  • Hematology

Cite this

Fonseca, R., Ahmann, G. J., Jalal, S. M., Dewald, G. W., Larson, D. R., Therneau, T. M., ... Greipp, P. R. (1998). Chromosomal abnormalities in systemic amyloidosis. British Journal of Haematology, 103(3), 704-710. https://doi.org/10.1046/j.1365-2141.1998.01034.x

Chromosomal abnormalities in systemic amyloidosis. / Fonseca, Rafael; Ahmann, Gregory J.; Jalal, Syed M.; Dewald, Gordon W.; Larson, Dirk R.; Therneau, Terry M; Gertz, Morie; Kyle, Robert A.; Greipp, Philip R.

In: British Journal of Haematology, Vol. 103, No. 3, 1998, p. 704-710.

Research output: Contribution to journalArticle

Fonseca, R, Ahmann, GJ, Jalal, SM, Dewald, GW, Larson, DR, Therneau, TM, Gertz, M, Kyle, RA & Greipp, PR 1998, 'Chromosomal abnormalities in systemic amyloidosis', British Journal of Haematology, vol. 103, no. 3, pp. 704-710. https://doi.org/10.1046/j.1365-2141.1998.01034.x
Fonseca, Rafael ; Ahmann, Gregory J. ; Jalal, Syed M. ; Dewald, Gordon W. ; Larson, Dirk R. ; Therneau, Terry M ; Gertz, Morie ; Kyle, Robert A. ; Greipp, Philip R. / Chromosomal abnormalities in systemic amyloidosis. In: British Journal of Haematology. 1998 ; Vol. 103, No. 3. pp. 704-710.
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