Background: Prophylactic total gastrectomy (PTG) is performed in carriers of CDH1 pathogenic and likely pathogenic (P/LP) variants and is becoming more frequent with broader use of germline genetic testing. There is an unmet need to standardize care and enhance outcomes among patients undergoing surgery for the prevention of gastric cancer.
Methods: This was a retrospective analysis of 150 individuals with germline CDH1 P/LP variants who underwent PTG as part of a prospective natural history study from October 2017 to May 2023.
Background: Mesothelioma is a rare, aggressive disease originating from mesothelial cells and carries a poor prognosis. Mesothelioma may arise from the pleura, pericardium, or peritoneum. Peritoneal mesothelioma (PM) usually spreads in a diffuse manner; however, a localized unifocal form of PM may occur.
View Article and Find Full Text PDFBackground: Colorectal leiomyosarcoma (CR-LMS) is a rare neoplasm arising from smooth muscle cells. It accounts for less than 0.1% of all colorectal malignancies.
View Article and Find Full Text PDFObjective: To investigate if underrepresentation of racial and ethnic minorities exists in metastatic colorectal carcinoma (CRC) clinical trials.
Summary Background Data: Representation of vulnerable subpopulations is essential for generalizability of clinical trials. Limited studies to date have investigated racial and ethnic representation of patients enrolled in clinical trials for metastatic CRC.
Background: Extrahepatic biliary neuroendocrine tumors (EBNETs) are rare. We aimed to characterize EBNETs including factors associated with survival.
Methods: The National Cancer Database was queried for patients with EBNETs from 2004 to 2016.
Background: Treatment of advanced liver tumors remains challenging. Although immune checkpoint inhibition has revolutionized treatment for many cancers, responses in colorectal liver metastases and biliary tract cancers remain suboptimal. Investigation into additional immunomodulatory therapies for these cancers is needed.
View Article and Find Full Text PDFBackground: There is variation in the probability of nodal metastases from low-grade appendiceal adenocarcinomas, and the role of right colectomy is unclear. We aimed to define the prevalence and utility of lymphovascular invasion in predicting the risk of nodal metastases to help stratify patients who may benefit from right hemicolectomy.
Methods: Patients with nonmetastatic low-grade appendiceal adenocarcinomas were identified from the National Cancer Database (2010-2017).
Background: Mucinous adenocarcinoma of the appendix (MACA) follows a complex disease course with variable survival. Large-scale predictive modeling may determine subtle yet important prognostic factors otherwise unseen in smaller cohort analyses.
Methods: Patients with MACA were identified from the Surveillance, Epidemiology, and End Results (SEER) Research Plus database (2005-2019).
Importance: Approximately 1% to 3% of gastric cancers and 5% of lobular breast cancers are hereditary. Loss of function CDH1 gene variants are the most common gene variants associated with hereditary diffuse gastric cancer and lobular breast cancer. Previously, the lifetime risk of gastric cancer was estimated to be approximately 25% to 83% and for breast cancer it was estimated to be approximately 39% to 55% in individuals with loss of function CDH1 gene variants.
View Article and Find Full Text PDFBackground: Colorectal adenosquamous carcinoma (ASC) is a rare subtype of colorectal carcinoma. This study presents findings from a large database query to highlight the demographic, clinical, and pathological factors, prognosis, and survival of colorectal ASC.
Methods: The Surveillance, Epidemiology, and End Results (SEER) database was used to identify patients with colorectal ASC diagnosed between 2000 and 2020 and assess factors associated with overall survival (OS) and cause-specific survival (CSS).
Purpose: Risk-reducing surgery for cancer prevention in solid tumors is a pressing clinical topic because of the increasing availability of germline genetic testing. We examined the short- and long-term outcomes of risk-reducing total gastrectomy (RRTG) and its lesser-known impacts on health-related quality of life (QOL) in individuals with hereditary diffuse gastric cancer syndrome.
Methods: Individuals who underwent RRTG as part of a single-institution natural history study of hereditary gastric cancers were examined.
Women with germline pathogenic variants in CDH1, which encodes E-cadherin protein, are at increased lifetime risk of invasive lobular carcinoma (ILC). The associated tumor characteristics of hereditary lobular breast carcinoma (HLBC) in this high-risk population are not well-known. A single-center prospective cohort study was conducted to determine the imaging and pathologic features of HLBC compared to population-based ILC using Surveillance, Epidemiology, and End Results (SEER) data.
View Article and Find Full Text PDFIntroduction: Patients with germline variants in CDH1 who undergo prophylactic total gastrectomy (TG) are at risk of altered nutrient and drug absorption due to modified gastrointestinal anatomy. Bone mineral density loss and micronutrient deficiencies have not been described previously in this patient population.
Methods: In this study we included 94 patients with germline CDH1 variants who underwent prophylactic TG between October 2017 and February 2022.
Background: Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract and have diverse tumor biology. Succinate dehydrogenase ()-deficient GIST, comprise less than 10% of all GIST, with mutational loss of the catalytic subunit being the most common subtype. Contrary to typical GISTs harboring inactivating mutations in -deficient GIST has varying biology and behavior, occurring at a younger age, often metastatic on presentation and frequently refractory to conventional tyrosine kinase inhibitors (TKI).
View Article and Find Full Text PDFJ Allergy Clin Immunol Pract
May 2023
Chronic granulomatous disease (CGD) is a rare inborn error of immunity, resulting from a defect in nicotinamide adenine dinucleotide phosphate oxidation and decreased production of phagocyte reactive oxygen species. The main clinical manifestations are recurrent infections and chronic inflammatory disorders. Current approaches to management include antimicrobial prophylaxis and control of inflammatory complications.
View Article and Find Full Text PDFJ Surg Res (Houst)
September 2022
Background: Few studies have examined which National Institutes of Health (NIH) Institutes or Centers (ICs) provide most of the funding to surgeons, nor examined the specifics of their research focus areas. A better understanding of both the goals of ICs and research focus areas for surgeons may facilitate further alignment of the two.
Methods: A previously created database of NIH-funded surgeons was queried.