Recurrent loss of the Y chromosome and homozygous deletions within the pseudoautosomal region 1: association with male predominance in mantle cell lymphoma

Nieländer I, Martín-Subero JI, Wagner F, Baudis M, Gesk S, Harder L, Hasenclever D, Klapper W, Kreuz M, Pott C, Martinez-Climent JA, Dreyling M, Arnold N, Siebert R.

Mantle cell lymphoma (MCL) is a B-cell lymphoproliferative disorder which predominantly affects men. In a large retrospective survey of the European MCL Network including 304 patients, median age was 63 years at first diagnosis with a male preponderance of 76%.1 The genetic hallmark of MCL is the translocation t(11;14)(q13;q32) which leads to overexpression of the CCND1 gene encoding Cyclin D1. Although recent studies revealed a number of genomic alterations and differentially expressed genes in MCL, the causes for the male predominance are still unknown. Hormonal differences might contribute to this gender imbalance. Another hypothesis is that male predominance in MCL results from a sex chromosome linked genetic or epigenetic alteration. Interestingly, some cytogenetic studies on MCL reported recurrent loss of the whole chromosome Y.

Using the karyotype parsing software from the Progenetix project [] on data from the Mitelman database [available form URL:, October 2007 edition], we show that 42 out of 365 (11.5%) cytogenetically analyzed t(11;14)-positive B-cell non-Hodgkin’s lymphoma (B-NHL) in male patients (excluding plasmocytoma/ multiple myeloma, NHL not otherwise specified and immature NHL) harbor a deletion of the Y chomosome.