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Abstract：
Tuberous Sclerosis is a complex genetic disease that has well-defined clinical criteria. These criteria don\'t include pancreatic neuroendocrine tumors. We represent a rare case of a patient, with a non-functioning pancreatic neuroendocrine tumor and concomitant diagnosis of tuberous sclerosis complex, and basement membrane disease. The patient was diagnosed based on typical radiologic findings. We have suggested close monitoring and during follow-up studies, the disease was stable. Interestingly the patient tested negative for Tuberous Sclerosis Complex (TSC), which suggests that she might be a somatic mosaic and the mutation level in blood lymphocytes was below the detection level. Moreover, a heterozygous pathogenic variant p.(Gly774Arg) and a heterozygous likely pathogenic variant p.(Gly1465Asp) were identified in the COL4A4 gene. COL4A4 gene is responsible for causing autosomal dominant basement membrane disease. In this case report, we discuss clinical, radiologic, and genetic aspects of these diseases, as well as optimal treatment and follow-up strategies. Thus, by presenting this case we would like to increase awareness of pancreatic neuroendocrine tumors in TSC and emphasize the need for follow-up monitoring.
摘要：
结节性硬化症是一种复杂的遗传疾病，具有明确的临床标准。这些标准不包括胰腺神经内分泌肿瘤。我们代表了一个罕见的病人，伴有无功能的胰腺神经内分泌肿瘤，并伴有结节性硬化症，和基底膜病。根据典型的放射学发现诊断患者。我们建议密切监测，在后续研究中，病情稳定。有趣的是，患者的结节性硬化症（TSC）检测呈阴性，这表明她可能是体细胞嵌合体，血液淋巴细胞的突变水平低于检测水平。此外，在COL4A4基因中鉴定出杂合致病变体p.(Gly774Arg)和杂合可能致病变体p.(Gly1465Asp)。COL4A4基因负责引起常染色体显性遗传基底膜疾病。在这个案例报告中,我们讨论临床，放射学,这些疾病的遗传方面，以及最佳治疗和后续策略。因此，通过介绍这种情况，我们希望提高对TSC中胰腺神经内分泌肿瘤的认识，并强调需要进行随访监测。
