Incidence and subtype specificity of API2-MALT1 fusion translocations in extranodal, nodal, and splenic marginal zone lymphomas

Ellen McPhail, C. David James, P. J. Kurtin

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Abstract

The t(11;18)(q21;q21) is thought to represent an important primary event in the development of marginal zone lymphomas, although an accurate estimation of the frequency and distribution of this genetic alteration among nodal, splenic, and extranodal marginal zone lymphoma types has yet to be determined. Recently, molecular genetic studies have shown that this translocation results in the fusion of the API2 gene on chromosome 11 and a novel gene termed MALT1 on chromosome 18. To investigate the incidence of API2-MALT1 fusion transcripts among marginal zone lymphomas and to determine possible marginal zone lymphoma subtype associations, we used reverse transcriptase-polymerase chain reaction to analyze RNAs extracted from frozen tissue samples of 99 marginal zone lymphomas. Fifty-seven involved diverse extranodal sites including 14 stomach, 11 lung, 7 orbit, 7 parotid, 5 thyroid, 5 lacrimal gland, 3 small intestine, 2 large intestine, 1 kidney, 1 paraspinal region and 1 skin. Twenty-one primary splenic and twenty-one primary nodal marginal zone lymphomas were also studied. API2-MALT1 fusion transcripts were detected in 12 of 57 extranodal marginal zone lymphomas (21%), but in none of the nodal or splenic cases. The cDNA sequences of the fusion transcripts were determined, revealing variation in the coding sequence fusion point for both API2 and MALT1. The findings suggest that t(11;18)(q21;q21) is restricted to extranodal marginal zone lymphomas and that these tumors have distinct genetic etiologies in comparison with their splenic and nodal counterparts.

Original languageEnglish (US)
Pages (from-to)1183-1188
Number of pages6
JournalAmerican Journal of Pathology
Volume156
Issue number4
StatePublished - 2000

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Lymphoma
Incidence
Chromosomes, Human, Pair 18
Lacrimal Apparatus
Chromosomes, Human, Pair 11
Gene Fusion
Large Intestine
Orbit
Reverse Transcriptase Polymerase Chain Reaction
Small Intestine
Molecular Biology
Stomach
Thyroid Gland
Complementary DNA
RNA
Kidney
Lung
Skin
Genes
Neoplasms

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medicine(all)

Cite this

Incidence and subtype specificity of API2-MALT1 fusion translocations in extranodal, nodal, and splenic marginal zone lymphomas. / McPhail, Ellen; David James, C.; Kurtin, P. J.

In: American Journal of Pathology, Vol. 156, No. 4, 2000, p. 1183-1188.

Research output: Contribution to journalArticle

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