Arshad Hajra, Crawford Charles K, Fishman Elliot K
The Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University, Baltimore, MD, USA.
Radiol Case Rep. 2025 Mar 8;20(5):2432-2436. doi: 10.1016/j.radcr.2025.01.096. eCollection 2025 May.
The co-occurrence of both Familial Adenomatous Polyposis (FAP) and Solid Pseudopapillary Neoplasms (SPN) of the pancreas is extremely uncommon, with limited reports published in the literature. FAP is a rare inherited disorder caused by a mutation in the adenomatous polyposis coli (APC) gene, while SPN is generally a low-grade malignant pancreatic lesion. We present the case of a 33-year-old female with a familial history of FAP, who initially presented with breast fibromatoses and was subsequently found to have colonic polyps, consistent with FAP, along with rare events like pancreatic SPNs in the head and tail of the pancreas and large desmoid tumors. It is a unique case that has never been reported in the literature and we provide findings of computed tomography (CT) and volume rendering to correlate the radiological features with pathology for an optimized diagnosis.
家族性腺瘤性息肉病（FAP）与胰腺实性假乳头状肿瘤（SPN）同时出现极为罕见，文献报道有限。FAP是一种由腺瘤性息肉病 coli（APC）基因突变引起的罕见遗传性疾病，而SPN通常是一种低级别恶性胰腺病变。我们报告了一例33岁女性病例，她有FAP家族史，最初表现为乳腺纤维瘤病，随后发现有结肠息肉，符合FAP，同时还伴有胰腺头、尾部罕见的SPN以及巨大硬纤维瘤等情况。这是一例文献中从未报道过的独特病例，我们提供了计算机断层扫描（CT）和容积再现的结果，以将放射学特征与病理学相关联，实现优化诊断。
