Extranodal marginal zone lymphoma of the uterine cervix with concomitant copy number gains of the MALT1 and BCL2 genes: A case report

Extranodal marginal zone lymphoma (EMZL) of mucosa-associated lymphoid tissue (MALT) of the uterus is rare, and the etiology, pathophysiology and cytogenetic features remain unknown at present. The present study reports a case of a 71-year-old female with EMZL of the uterine cervix that was 80 mm in diameter and invaded directly into the rectal serosa. Complete remission was successfully induced by 6 courses of immunochemotherapy with rituximab plus cyclophosphamide, doxorubicin, vincristine and prednisolone. Although the metaphase spread of the tumor cells was unavailable for whole cytogenetic analysis, fluorescence in situ hybridization (FISH) detected triple signals for MALT1 and B-cell lymphoma 2, located at chromosome 18q21, and the centromere of chromosome 18, which was suggestive of trisomy 18, and in combination with previous studies, suggested a possible association between trisomy 18 and the large tumor at initial presentation in the present patient. In addition, FISH examination detected immunoglobulin heavy chain gene rearrangement, although the translocation partner was unconfirmed. A total of 18 previously-studied patients with EMZL of the uterus, including that of the present study, were reviewed with respect to their clinical features and treatment and cytogenetic abnormality. In the evaluation of the English scientific literature, this is the first reported patient with EMZL of the uterus with partly determined cytogenetic abnormalities.