The Spectrum of Familial Pituitary Neuroendocrine Tumors

Armeni, Eleni; Grossman, Ashley

doi:10.1007/s12022-022-09742-0

Cited by 3 publications

(1 citation statement)

References 148 publications

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“…However, a subset of cases arises within a familial context, either as part of syndromic diseases or as familial isolated pituitary adenomas (FIPA), which are caused by pathogenic germline mutations (2). Tumours within familial settings tend to be more aggressive, manifesting at a younger age, with larger sizes, increased invasiveness, and resistance to standard treatments (3). An expanding list of genes, including AIP, CABLES1, CDH23, CDKN1A, CDKN1B, CDKN2B, CDKN2C, DICER1, GNAS, GPR101, MAX, MEN1, MLH1, MSH2, MSH6, NF1, PMS2, PRKACA, PRKACB, PRKAR1A, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TP53, USP8, and VHL, has been identified with germline or mosaic mutations predisposing individuals to pituitary adenomas (4)(5)(6) .…”

Section: Introductionmentioning

confidence: 99%

Germline mutations in young-onset sporadic pituitary macroadenomas: a multigene panel analysis

Gaspar,

Gonçalves,

Nobre

et al. 2024

Preprint

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ObjectiveMutations in several genes have been associated with familial forms of pituitary adenomas. Sporadic pituitary adenomas (i.e. with no family history or coexistent endocrine tumours) are also occasionally found to result from germline mutations in these genes, especially in young patients with larger tumours. The aim of this study was to determine the frequency of germline mutations in patients with young-onset sporadic pituitary macroadenomas.MethodsA cohort of 225 Portuguese patients with sporadic pituitary macroadenomas diagnosed before the age of 40 years was studied by whole exome sequencing (WES) followed by the analysis of a virtual panel of 29 genes that have been associated with predisposition to pituitary adenomas.ResultsPathogenic and likely pathogenic variants were identified in 16 (7.1%) of patients. The affected genes wereAIP(n=4),PMS2(n=4),MEN1(n=2),VHL(n=2),CDH23(n=1),MSH2(n=1),SDHB(n=1), andTP53(n=1). In patients diagnosed under the ages of 30 and 18 years, the frequency of mutations increased to 9.0% and 12.0%, respectively.ConclusionThis is so far the largest multigene analysis of patients with young-onset sporadic pituitary macroadenomas. We confirmed theAIPas the most frequently involved gene, but also uncovered rarer genetic causes of pituitary adenomas, including the first independent confirmation of a role of theCDH23gene. The results may contribute to a better understanding of the genetic landscape of these tumours and help to decide which genes to include in the genetic screening of patients with young-onset pituitary macroadenomas.

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Section: Introductionmentioning

confidence: 99%

Germline mutations in young-onset sporadic pituitary macroadenomas: a multigene panel analysis

Gaspar,

Gonçalves,

Nobre

et al. 2024

Preprint

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The Driver Role of Pathologists in Endocrine Oncology: What Clinicians Seek in Pathology Reports

et al. 2023

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Endocrine neoplasia represents an increasingly broad spectrum of disorders. Endocrine neoplasms range from incidental findings to potentially lethal malignancies. In this paper, we cover the impact of pathology in the interpretation of the clinic-pathological, genetic, and radiographic features underpinning these neoplasms. We highlight the critical role of multidisciplinary interactions in structuring a rational diagnostic and efficient therapeutic plan and emphasize the role of histopathological input in decision-making. In this context, standardized pathology reporting and second opinion endocrine pathology review represent relevant tools to improve the overall diagnostic workup of patients affected by endocrine tumors in every specific scenario. In fact, although a relevant proportion of cases may be correctly identified based on clinical presentation and biochemical/imaging investigations, a subset of cases presents with atypical findings that may lead to an inappropriate diagnosis and treatment plan based on a wrong pathological diagnosis if all pieces of the puzzle are not correctly considered. Pathologists have a responsibility to actively guide clinicians before and during surgical procedures to prevent unnecessary interventions. In all areas of endocrine pathology, pathologists must understand the complexity of tissue preservation and assay sensitivities and specificities to ensure the optimal quality and interpretation of diagnostic material. Finally, pathologists are central actors in tumor tissue biobanking, which is an expanding field in oncology that should be promoted while adhering to strict ethical and methodological standards.

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From New Endocrine Entities Requiring New Approaches to New Approaches Leading to New Endocrine Entities

2023

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The Spectrum of Familial Pituitary Neuroendocrine Tumors

Cited by 3 publications

References 148 publications

Germline mutations in young-onset sporadic pituitary macroadenomas: a multigene panel analysis

Germline mutations in young-onset sporadic pituitary macroadenomas: a multigene panel analysis

The Driver Role of Pathologists in Endocrine Oncology: What Clinicians Seek in Pathology Reports

From New Endocrine Entities Requiring New Approaches to New Approaches Leading to New Endocrine Entities

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