A 51-year old presented with a 6-month history of increasing pelvic/lower back pain with nocturnal waking and episodes of anorexia and vomiting. Examination revealed right torticollis and Horner’s syndrome, and a large abdominal mass arising from the pelvis. Magnetic resonance and positron emission tomography imaging revealed (A) a 14 cm heterogeneous enhancing mass, abutting the left kidney with standardised uptake value max = 2.9, (B) a large heterogeneous enhancing pelvic mass (C) mesenteric adenopathy standardised uptake value max = 10.3 and (D) 6 cm right lung apex mass standardised uptake value max = 4.3. Computerised tomography-guided biopsy of lesion A was reported as neurofibroma with occasional atypia, lesion B a benign uterine leiomyoma and lesion C follicular lymphoma world health organisation Grade 2. Although she had been given the diagnosis of Neurofibromatosis Type-1 (NF1) 25-years previously following removal of an intradural extramedullary schwannoma she had no cutaneous stigmata of NF1. Genetic analysis of blood lymphocyte DNA identified a pathogenic variant in SMARCB1 confirming a diagnosis of schwannomatosis. Following 6-months chemotherapy for lymphoma, surgery was performed to remove lesion A. Histology revealed a malignant peripheral nerve sheath tumour with areas of low and high-grade change. An incidental, well-differentiated small bowel neuroendocrine carcinoma was also excised. Close surveillance continues with no recurrence after 6 years. This case study describes a novel finding of three separate synchronous primary malignancies in a patient with schwannomatosis and a proven SMARCB1 pathogenic variant.

中文翻译：

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与种系SMARCB1致病变异相关的多个原发性恶性肿瘤。

一名51岁的患者，有6个月的病史，其中包括夜间醒来的骨盆/腰背疼痛加重以及厌食和呕吐。检查发现右斜颈和霍纳氏综合症，以及由骨盆引起的巨大腹部肿块。磁共振和正电子发射断层显像显示（A）14厘米异质增强肿块，以标准摄取值max = 2.9紧靠左肾，（B）大异质强化骨盆肿块（C）肠系膜腺病标准化摄取值max = 10.3 （D）6 cm右肺顶点质量标准化摄取值max = 4.3。据报道，计算机断层扫描引导的活组织检查为神经纤维瘤伴偶发性非典型性病变，病灶B为良性子宫平滑肌瘤，病灶C滤泡性淋巴瘤世界卫生组织2级。尽管在去除硬膜内髓外神经鞘瘤后25年，她被诊断出1型神经纤维瘤病（NF1），但她没有皮肤NF1的柱头。血液淋巴细胞DNA的遗传分析鉴定了一个致病基因。SMARCB1确诊为神经鞘瘤病。在对淋巴瘤进行了6个月的化学治疗后，进行了手术以清除A病灶。组织学检查发现恶性周围神经鞘瘤具有低和高变化区域。还切除了偶然的，分化良好的小肠神经内分泌癌。持续进行严密监视，6年后无复发。本案例研究描述了患有神经鞘瘤病和已证实的SMARCB1致病变异的患者中三个独立的同步原发性恶性肿瘤的新发现。