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Progress report on multiple endocrine neoplasia type 1.

Fam Cancer

January 2025

Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disorder caused by a germline pathogenic variant in the MEN1 tumor suppressor gene. Patients with MEN1 have a high risk for primary hyperparathyroidism (PHPT) with a penetrance of nearly 100%, pituitary adenomas (PitAd) in 40% of patients, and neuroendocrine neoplasms (NEN) of the pancreas (40% of patients), duodenum, lung, and thymus. Increased MEN1-related mortality is mainly related to duodenal-pancreatic and thymic NEN.

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Introduction: Immune checkpoint inhibitors (ICIs) have revolutionized cancer therapy by enhancing the antitumor immune response. This case describes an 80-year-old male with synchronous multiple primary malignancies (MPMs), including lung metastatic hepatocellular carcinoma (HCC), and non-small cell lung carcinoma (NSCLC), and brain metastatic urothelial carcinoma, who was treated with dual ICI therapy.

Case Presentation: The patient, with a history of diabetes, hypertension, dyslipidaemia, well-differentiated neuroendocrine duodenal tumors and micronodular exogenous cirrhosis (Child-Pugh class A), presented with a non-invasive bladder carcinoma (pT1N0M0) resected endoscopically in December 2022.

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Synchronous colorectal carcinoma is having more than 1 primary carcinoma detected in a single patient at the same time or within 6 months of tumor diagnosis. Metachronous colorectal carcinoma is the presence of more than 1 primary carcinoma detected consecutively in a single person after a set time interval. Patients with Lynch syndrome and Muir-Torre syndrome (a subset of Lynch syndrome) inherit a germline mutation in 1 of the mismatch repair (MMR) genes.

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Invasive lobular carcinoma (ILC) represents a rare subtype of breast carcinoma, originating from the lobule. Unlike ductal carcinoma, ILC does not express E-cadherin and thus can metastasize to uncommon sites. We aimed to investigate the clinicopathological characteristics of the rare subgroup of ILC patients with gastrointestinal (GI) metastases.

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Background: Small bowel adenocarcinoma (SBA) is a rare gastrointestinal malignancy with an increasing incidence and a high propensity for liver metastasis (LM). This study aimed to investigate the risk factors for synchronous LM and prognostic factors in patients with LM.

Methods: Utilizing the Surveillance, Epidemiology, and End Results (SEER) database, this study analyzed data from 2,064 patients diagnosed with SBA between 2010 and 2020.

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