Intraductal Papillary Mucinous Neoplasm (IPMN) and BRCA Mutation: A Case Report

Bhandari, Bharat S.; Kaila, Vishal; Saad, Ali B.; Khalil, Emilia; Som, Aniruddh; Munjal, Akhil; Kannadath, Bijun S.; Thosani, Nirav

doi:10.14309/00000434-201710001-02828

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“…Along with FPC, certain hereditary genetic predisposition syndromes confer higher risk of pancreatic cancer in patients. Various case reports have identified IPMNs in patients with polycystic kidney disease [ 73 , 74 ], Lady Windermere Syndrome [ 75 ], parathyroid adenoma concerning for multiple endocrine neoplasia type 1 or type 2A, [ 76 ] cystic fibrosis [ 77 ], BRCA2 [ 78 ] and Lynch syndrome [ 79 ]. The underlying mutations in IPMNs were not analyzed in these case reports.…”

Section: Ipmns In Hereditary Genetic Predisposition Syndromesmentioning

confidence: 99%

Intraductal Papillary Mucinous Neoplasms in Hereditary Cancer Syndromes

et al. 2022

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Hereditary pancreatic cancer, which includes patients with familial pancreatic cancer (FPC) and hereditary pancreatic cancer syndromes, accounts for about 10% of all pancreatic cancer diagnoses. The early detection of pre-cancerous pancreatic cysts has increasingly become a focus of interest in recent years as a potential avenue to lower pancreatic cancer incidence and mortality. Intraductal papillary mucinous cystic neoplasms (IPMNs) are recognized precursor lesions of pancreatic cancer. IPMNs have high prevalence in patients with hereditary pancreatic cancer and their relatives. While various somatic mutations have been identified in IPMNs, certain germline mutations associated with hereditary cancer syndromes have also been identified in IPMNs, suggesting a role in their formation. While the significance for the higher prevalence of IPMNs or similar germline mutations in these high-risk patients remain unclear, IPMNs do represent pre-malignant lesions that need close surveillance. This review summarizes the available literature on the incidence and prevalence of IPMNs in inherited genetic predisposition syndromes and FPC and speculates if IPMN and pancreatic cancer surveillance in these high-risk individuals needs to change.

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