目的:林奇综合征(LynchSyndrome,LS)是一种由DNA错配修复基因的遗传性突变引起的癌症易感疾病。胃肠道,泌尿生殖系统,众所周知,子宫内膜癌主要发生在LS患者中。相比之下,在LS的背景下,关于脑肿瘤的报道很少,迄今为止,颅内肿瘤的表现似乎是巧合。
方法:我们介绍了一例56岁女性发展为侵袭性乳营养垂体腺瘤的病例,该病例有多个Lynch相关的恶性肿瘤病史,并具有确认的MSH2突变。此外,我们通过PubMed使用搜索词“林奇综合症”进行了文献综述,\'HNPCC\',“MMR突变”与“颅内肿瘤”相结合,\'鞍区肿瘤\',“垂体腺瘤”,或“垂体癌”,重点关注其他报告病例和治疗方案。
结果:少数研究表明,在LS的背景下,脑肿瘤的发生频率增加,主要是成胶质细胞瘤和低级别神经胶质瘤或其他脑肿瘤。根据我们的文献综述,我们总结了LS患者垂体腺瘤的已知病例,包括本案。此外,我们回顾了使用替莫唑胺(TMZ)治疗侵袭性垂体腺瘤或癌的常见建议,并发现了在LS患者中可能不足的强烈指征。而PD-1阻断可能是一种有希望的治疗选择。
结论:结合我们的案例,越来越多的证据表明,颅内肿瘤,特别是鞍区的肿瘤,在LS患者中可能比以前认为的更普遍,由于它们的遗传特征大大影响了治疗方案的生存能力和疗效。侵袭性肿瘤生长的临床症状与在复发的情况下对标准治疗的无反应性应导致进一步的诊断措施,因为发现种系MMR突变需要对其他肿瘤表现进行更长时间的筛查,并且会显著影响进一步的治疗.
UNASSIGNED: Lynch Syndrome (LS) is a cancer-predisposing condition resulting from hereditary mutation of DNA mismatch repair genes. Gastrointestinal, urogenital, and endometrial carcinomas are well-known to predominantly occur in LS patients. In contrast, there are only few reports on brain tumours in the context of LS and to date intracranial tumour manifestation appear to be rather coincidental.
UNASSIGNED: We present the case of a 56-year-old female developing aggressive lactotroph pituitary adenoma following a history of multiple Lynch-associated malignomas and having a confirmed MSH2 mutation. Furthermore, we performed a literature
review via PubMed using the search terms \'Lynch Syndrome\', \'HNPCC\', \'MMR mutation\' combined with \'intracranial tumour\', \'sellar tumour\', \'pituitary adenoma\', or \'pituitary carcinoma\', focusing on other reported cases and treatment regimens.
UNASSIGNED: A handful of studies have indicated an increased frequency of brain tumours in the context of LS, predominantly glioblastoma and less frequently low-grade glioma or other brain tumours. Based on our literature
review, we summarized the known instances of pituitary adenoma in LS patients, including the present case. Furthermore, we reviewed the common recommendation of using temozolomide (TMZ) for treatment of aggressive pituitary adenoma or carcinoma and found strong indication that it might be insufficient in LS patients, while PD-1 blockade could be a promising treatment option.
UNASSIGNED: Combined with our case, there is a growing body of evidence that intracranial tumours and in particular those of the sellar region might be more prevalent in LS patients than previously assumed, due to their genetic profile substantially affecting viability and efficacy of treatment options. Clinical signs of aggressive tumour growth in combination with irresponsiveness to standard treatment in case of recurrence should lead to further diagnostic measures, because revelation of germline MMR mutations would call for an extended screening for other neoplastic manifestations and would markedly influence further treatment.