Clinical and biological features of B-cell neoplasms with CDK6 translocations: an association with a subgroup of splenic marginal zone lymphomas displaying frequent CD5 expression, prolymphocytic cells, and TP53 abnormalities.

Fiche publication

Date publication

décembre 2020

Journal

British journal of haematology

Auteurs

Membres identifiés du Cancéropôle Est :
Dr CORNILLET-LEFEBVRE Pascale , Dr COLLONGE-RAME Marie-Agnès

Tous les auteurs :
Gailllard B, Cornillet-Lefebvre P, Le QH, Maloum K, Pannetier M, Lecoq-Lafon C, Grange B, Jondreville L, Michaux L, Nadal N, Ittel A, Luquet I, Struski S, Lefebvre C, Gaillard JB, Lafage-Pochitaloff M, Balducci E, Penther D, Barin C, Collonge-Rame MA, Jimenez-Poquet M, Richebourg S, Lemaire P, Defasque S, Radford-Weiss I, Bidet A, Susin SA, Nguyen-Khac F, Chapiro E,

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/33314017

Résumé

A translocation involving the cyclin-dependent kinase 6 (CDK6) gene [t(CDK6)] is a rare but recurrent abnormality in B-cell neoplasms. To further characterise this aberration, we studied 57 cases; the largest series reported to date. Fluorescence in situ hybridisation analysis confirmed the involvement of CDK6 in all cases, including t(2;7)(p11;q21) immunoglobulin kappa locus (IGK)/CDK6 (n = 51), t(7;14)(q21;q32) CDK6/immunoglobulin heavy locus (IGH) (n = 2) and the previously undescribed t(7;14)(q21;q11) CDK6/T-cell receptor alpha locus (TRA)/T-cell receptor delta locus (TRD) (n = 4). In total, 10 patients were diagnosed with chronic lymphocytic leukaemia, monoclonal B-cell lymphocytosis or small lymphocytic lymphoma, and 47 had small B-cell lymphoma (SmBL) including 36 cases of marginal zone lymphoma (MZL; 34 splenic MZLs, one nodal MZL and one bronchus-associated lymphoid tissue lymphoma). In all, 18 of the 26 cytologically reviewed cases of MZL (69%) had an atypical aspect with prolymphocytic cells. Among the 47 patients with MZL/SmBL, CD5 expression was found in 26 (55%) and the tumour protein p53 (TP53) deletion in 22 (47%). The TP53 gene was mutated in 10/30 (33%); the 7q deletion was detected in only one case, and no Notch receptor 2 (NOTCH2) mutations were found. Immunoglobulin heavy-chain variable-region (IGHV) locus sequencing revealed that none harboured an IGHV1-02*04 gene. Overall survival was 82% at 10 years and not influenced by TP53 aberration. Our present findings suggest that most t(CDK6)+ neoplasms correspond to a particular subgroup of indolent marginal zone B-cell lymphomas with distinctive features.