Primary high-grade neuroendocrine carcinoma emerging from an adenomatous polyp in the setting of familial adenomatous polyposis

Detweiler, Claire J.; Cardona, Diana M.; Hsu, David S.; McCall, Shannon J.

doi:10.1136/bcr-2015-214206

Cited by 4 publications

(4 citation statements)

References 40 publications

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“…However, the lack of mutations in ATRX, DAXX, MEN1, and TSC2 supports a distinctive molecular evolution for the NEC component in comparison to NET tumors[ 45 ]. Additionally, primary high grade NEC rarely occurs in patients with FAP in contrast to neuroendocrine hyperplasia and well differentiated NET supporting the theory that the evolution of NEC is distinct from NET in these mixed tumors[ 52 ].…”

Section: Discussionmentioning

confidence: 55%

Mixed epithelial endocrine neoplasms of the colon and rectum – An evolution over time: A systematic review

Kanthan¹,

Tharmaradinam²,

Asif³

et al. 2020

WJG

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BACKGROUND Mixed tumors of the colon and rectum, composed of a combination of epithelial and endocrine elements of benign and malignant potential are rare neoplasms. These can occur anywhere in the gastrointestinal tract and are often diagnosed incidentally. Though they have been a well-documented entity in the pancreas, where the exocrine-endocrine mixed tumors have been known for a while, recognition and accurate diagnosis of these tumors in the colon and rectum, to date, remains a challenge. This is further compounded by the different terminologies that have been attributed to these lesions over the years adding to increased confusion and misclassification. Therefore, dedicated literature reviews of these lesions in the colon and rectum are inconsistent and are predominantly limited to case reports and case series of limited case numbers. Though, most of these tumors are high grade and of advanced stage, intermediate and low grade lesions of these mixed tumors are also increasingly been reported. There are no established independent consensus based guidelines for the therapeutic patient management of these unique lesions. AIM To provide a comprehensive targeted literature review of these complex mixed tumors in the colon and rectum that chronicles the evolution over time with summarization of historical perspectives of terminology and to further our understanding regarding their pathogenesis including genomic landscape, clinicoradiological features, pathology, treatment, prognosis, the current status of the management of the primary lesions, their recurrences and metastases. METHODS A comprehensive review of the published English literature was conducted using the search engines PubMed, MEDLINE and GOOGLE scholar. The following search terms [“mixed tumors colon” OR mixed endocrine/neuroendocrine tumor/neoplasm/lesion colon OR adenocarcinoma and endocrine/neuroendocrine tumor colon OR mixed adenocarcinoma and endocrine/neuroendocrine carcinoma colon OR Amphicrine tumors OR Collision tumors] were used. Eligibility criteria were defined and all potential relevant items, including full articles and/or abstracts were independently reviewed, assessed and agreed upon items were selected for in-depth analysis. RESULTS In total 237 full articles/abstracts documents were considered for eligibility of which 45 articles were illegible resulting in a total of 192 articles that were assessed for eligibility of which 139 have been selected for reference in this current review. This seminal manuscript is a one stop article that provides a detailed outlook on the evolution over time with summarization of historical perspectives, nomenclature, clinicoradiological features, pathology, treatment, prognosis and the current status of the management of both the primary lesions, their recurrences and metastases. Gaps in knowledge have also been identified and discussed. An important outcome of this manuscript is the justified prop...

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Section: Discussionmentioning

confidence: 55%

Mixed epithelial endocrine neoplasms of the colon and rectum – An evolution over time: A systematic review

Kanthan¹,

Tharmaradinam²,

Asif³

et al. 2020

WJG

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“…It should be noted that other hereditary conditions including MEN1 & 2, VHL, and Neurofibromatosis Type 1 are syndromes with well-established potential for neuroendocrine tumor development [8]. A sparse number of case reports describing NETs in the setting of FAP have been noted including those by Detweiler et al, Camp et al, and Venu et al [9][10][11]. In addition, Weidner et al reported a case of NET in the setting of MUTYH Adenomatous Polyposis, an autosomal recessive disorder with a similar predisposition to adenomatous development within the gastrointestinal tract [12].…”

Section: Discussionmentioning

confidence: 99%

An Unexpected Finding: High Grade Neuroendocrine Tumor in a Patient with Known Familial Adenomatous Polyposis (FAP)

2023

Ann Case Report

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Familial Adenomatous Polyposis (FAP) is an inherited, autosomal dominant condition with a well-known predisposition for causing colorectal carcinoma. Notably, this predisposition often afflicts people at a significantly earlier age than de novo colorectal cancer. Thus, screening practices for patients with FAP are more rigorous and begin at an earlier age. Importantly, in FAP, morbidity may arise from less ubiquitously recognized conditions, such as gastric polyps, osteomas, or thyroid carcinomas, to name a few. In this setting, we describe the case of a 27-year-old gentleman, with known FAP, found to have a grade 3, metastatic neuroendocrine tumor (NET) with additional discussion regarding the evaluation and treatment of NETs.

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“…Both C- and R-MiNENs involve mixed adenocarcinoma-NECs and mixed adenocarcinoma-NETs [16]. Though several CR-NENs have been reported in patients with familial colorectal cancer syndromes, including Lynch syndrome [65, 66] and familial adenomatous polyposis [67], the exact role of these syndromes in CR-NEN development remains to be elucidated.…”

Section: Classification Based On Locationmentioning

confidence: 99%

Relation between WHO Classification and Location- and Functionality-Based Classifications of Neuroendocrine Neoplasms of the Digestive Tract

Helderman,

Suerink,

Kilinç

et al. 2023

Neuroendocrinology

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Practice of neuroendocrine neoplasms (NENs) of the digestive tract, which comprise of a highly diverse group of tumors with a rising incidence, faces multiple biological, diagnostic, and therapeutic issues. Part of these issues is due to misuse and misinterpretation of the classification and terminology of NENs of the digestive tract, which make it increasingly challenging to evaluate and compare the literature. For instance, grade 3 neuroendocrine tumors (NETs) are frequently referred to as neuroendocrine carcinomas (NECs) and vice versa, while NECs are, by definition, high grade and therefore constitute a separate entity from NETs. Moreover, the term NET is regularly misused to describe NENs in general, and NETs are frequently referred to as benign, while they should always be considered malignancies as they do have metastatic potential. To prevent misconceptions in future NEN-related research, we reviewed the most recent terminology used to classify NENs of the digestive tract and created an overview that combines the classification of these NENs according to the World Health Organization (WHO) with location- and functionality-based classifications. This overview may help clinicians and researchers in understanding the current literature and could serve as a guide in the clinic as well as for writing future studies on NENs of the digestive tract. In this way, we aim for the universal use of terminology, thereby providing an efficient foundation for future NEN-related research.

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Primary high-grade neuroendocrine carcinoma emerging from an adenomatous polyp in the setting of familial adenomatous polyposis

Cited by 4 publications

References 40 publications

Mixed epithelial endocrine neoplasms of the colon and rectum – An evolution over time: A systematic review

Mixed epithelial endocrine neoplasms of the colon and rectum – An evolution over time: A systematic review

An Unexpected Finding: High Grade Neuroendocrine Tumor in a Patient with Known Familial Adenomatous Polyposis (FAP)

Relation between WHO Classification and Location- and Functionality-Based Classifications of Neuroendocrine Neoplasms of the Digestive Tract

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