Hansen Marcus Høy, Juul-Jensen Karen, Cédile Oriane, Kavan Stephanie, Møller Michael Boe, Haaber Jacob, Nyvold Charlotte Guldborg
Haematology-Pathology Research Laboratory, Research Unit for Haematology and Research Unit for Pathology, University of Southern Denmark and Odense University Hospital, Odense, Denmark.
Department of Clinical Genetics, Odense University Hospital, Denmark.
Leuk Res Rep. 2021 Jun 1;15:100255. doi: 10.1016/j.lrr.2021.100255. eCollection 2021.
Relapse involving the central nervous system (CNS) is an infrequent event in the progression of mantle cell lymphoma (MCL) with an incidence of approximately four percent. We report four cases of MCL with CNS relapse. In three of the four patients a large chromosomal copy-number alteration (CNA) of 1q was demonstrated together with TP53 mutation/deletion. These patients experienced brief response to ibrutinib, whereas a fourth patient harboring mutated ATM demonstrated a long-term effect to ibrutinib and no CNA. Although it is unclear whether chromosome 1q CNA contribute to specific phenotypes these reports may be of value as such lesions are uncommon features of MCL.
中枢神经系统（CNS）复发在套细胞淋巴瘤（MCL）进展中是一种罕见事件，发生率约为4%。我们报告了4例CNS复发的MCL病例。在这4例患者中的3例中，显示出1q的大型染色体拷贝数改变（CNA）以及TP53突变/缺失。这些患者对伊布替尼有短暂反应，而第四例携带ATM突变的患者对伊布替尼有长期反应且无CNA。虽然尚不清楚1q染色体CNA是否导致特定表型，但这些报告可能有价值，因为此类病变是MCL的罕见特征。
