Multiple endocrine neoplasia type 1 (MEN1) syndrome is usually accompanied by endocrine tumors, but non-endocrine tumors can occur as well. However, the coexistence of MEN1 syndrome and malignant tumor such as low-grade fibromyxoid sarcoma has not been described in the literature. Moreover, the MEN1 gene mutations have not been identified in patients with fibromyxoid sarcoma, so far. We present a patient with a long-year endocrine follow-up due to multiple endocrine tumors. During his lifespan, he has been surgically treated for pancreatic gastrinoma, parathyroid hyperplasia, atypical pulmonary carcinoid, various benign mesenchymal, and several skin tumors (basocellular tumor, lipomas, and fibromas) which raised a high clinical suspicion of MEN1 syndrome but the patient refused genetic testing. Recently, he developed a novel malignant tumor – recurrent low-grade fibromyxoid sarcoma of the trunk and extremities with multiple subsequent operations. The patient eventually accepted the genetic testing which proved him to be a carrier of a novel mutation in the MEN1 gene. Unlike some other syndromes where a genetic mutation can predict clinical course, there is no genotype-phenotype correlation in MEN1 syndrome. Therefore, these patients require lifelong and multidisciplinary surveillance, not only for typical endocrine and benign non-endocrine tumors but also for diverse and even more malignant forms. The atypical clinical presentation should pose suspicion about new gene mutation and serve as a warning in the further follow-up.

中文翻译：

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多发性内分泌肿瘤1型和复发性纤维粘膜肉瘤患者MEN1基因的新突变–病例报告

多发性内分泌肿瘤1型（MEN1）综合征通常伴有内分泌肿瘤，但也可能发生非内分泌肿瘤。然而，文献中尚未描述MEN1综合征和恶性肿瘤如低度纤维粘液样肉瘤的共存。而且，到目前为止，尚未在患有纤维粘肉瘤的患者中鉴定出MEN1基因突变。由于多发内分泌肿瘤，我们对患者进行了长期的内分泌随访。在他的一生中，他接受了胰腺胃泌素瘤，甲状旁腺增生，非典型肺类癌，各种良性间充质和几种皮肤肿瘤（基底细胞瘤，脂瘤和纤维瘤）的手术治疗，临床上高度怀疑MEN1综合征，但患者拒绝了基因测试。最近，他开发了一种新型的恶性肿瘤-躯干和四肢复发性低度纤维肉瘤样肉瘤，随后进行了多次手术。患者最终接受了基因测试，证明他是MEN1基因新突变的携带者。与其他一些基因突变可以预测临床病程的综合症不同，MEN1综合症没有基因型与表型的相关性。因此，这些患者不仅需要针对典型的内分泌肿瘤和良性非内分泌肿瘤，而且还需要针对各种甚至是恶性形式的肿瘤进行终生和多学科的监测。非典型的临床表现应引起对新基因突变的怀疑，并作为进一步随访的警告。患者最终接受了基因测试，证明他是MEN1基因新突变的携带者。与其他一些基因突变可以预测临床病程的综合症不同，MEN1综合症没有基因型与表型的相关性。因此，这些患者不仅需要针对典型的内分泌肿瘤和良性非内分泌肿瘤，而且还需要针对各种甚至是恶性形式的肿瘤进行终生和多学科的监测。非典型的临床表现应引起对新基因突变的怀疑，并作为进一步随访的警告。患者最终接受了基因测试，证明他是MEN1基因新突变的携带者。与其他一些基因突变可以预测临床病程的综合症不同，MEN1综合症没有基因型与表型的相关性。因此，这些患者不仅需要针对典型的内分泌肿瘤和良性非内分泌肿瘤，而且还需要针对各种甚至是恶性形式的肿瘤进行终生和多学科的监测。非典型的临床表现应引起对新基因突变的怀疑，并作为进一步随访的警告。这些患者不仅需要针对典型的内分泌肿瘤和良性非内分泌肿瘤，而且还需要针对多种甚至是恶性形式的肿瘤进行终生和多学科的监测。非典型的临床表现应引起对新基因突变的怀疑，并作为进一步随访的警告。这些患者不仅需要对典型的内分泌和良性非内分泌肿瘤进行治疗，而且还需要对各种甚至是恶性形式的肿瘤进行终生和多学科监测。非典型的临床表现应引起对新基因突变的怀疑，并作为进一步随访的警告。