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Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort

Dénes, Judit, Swords, Francesca, Rattenberry, Eleanor, Stals, Karen, Owens, Martina, Cranston, Treena, Xekouki, Paraskevi, Moran, Linda, Kumar, Ajith, Wassif, Christopher, Fersht, Naomi, Baldeweg, Stephanie E., Morris, Damian, Lightman, Stafford, Agha, Amar, Rees, Dafydd Aled ORCID:, Grieve, Joan, Powell, Michael, Boguszewski, Cesar Luiz, Dutta, Pinaki, Thakker, Rajesh V., Srirangalingam, Umasuthan, Thompson, Chris J., Druce, Maralyn, Higham, Claire, Davis, Julian, Eeles, Rosalind, Stevenson, Mark, O'Sullivan, Brendan, Taniere, Phillipe, Skordilis, Kassiani, Gabrovska, Plamena, Barlier, Anne, Webb, Susan M., Aulinas, Anna, Drake, William M., Bevan, John S., Preda, Cristina, Dalantaeva, Nadezhda, Ribeiro-Oliveira, Antônio, Garcia, Isabel Tena, Yordanova, Galina, Iotova, Violeta, Evanson, Jane, Grossman, Ashley B., Trouillas, Jacqueline, Ellard, Sian, Stratakis, Constantine A., Maher, Eamonn R., Roncaroli, Federico and Korbonits, Márta 2015. Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. Journal of Clinical Endocrinology & Metabolism 100 (3) , E531. 10.1210/jc.2014-3399

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Objective: The objective of the investigation was to study the possible coexistence of pituitary adenoma and pheo/PGL. Design: Thirty-nine cases of sporadic or familial pheo/PGL and pituitary adenomas were investigated. Known pheo/PGL genes (SDHA-D, SDHAF2, RET, VHL, TMEM127, MAX, FH) and pituitary adenoma genes (MEN1, AIP, CDKN1B) were sequenced using next generation or Sanger sequencing. Loss of heterozygosity study and pathological studies were performed on the available tumor samples. Setting: The study was conducted at university hospitals. Patients: Thirty-nine patients with sporadic of familial pituitary adenoma and pheo/PGL participated in the study. Outcome: Outcomes included genetic screening and clinical characteristics. Results: Eleven germline mutations (five SDHB, one SDHC, one SDHD, two VHL, and two MEN1) and four variants of unknown significance (two SDHA, one SDHB, and one SDHAF2) were identified in the studied genes in our patient cohort. Tumor tissue analysis identified LOH at the SDHB locus in three pituitary adenomas and loss of heterozygosity at the MEN1 locus in two pheochromocytomas. All the pituitary adenomas of patients affected by SDHX alterations have a unique histological feature not previously described in this context. Conclusions: Mutations in the genes known to cause pheo/PGL can rarely be associated with pituitary adenomas, whereas mutation in a gene predisposing to pituitary adenomas (MEN1) can be associated with pheo/PGL. Our findings suggest that genetic testing should be considered in all patients or families with the constellation of pheo/PGL and a pituitary adenoma.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Publisher: The Endocrine Society
ISSN: 0021-972X
Date of First Compliant Deposit: 16 September 2019
Date of Acceptance: 9 December 2014
Last Modified: 04 May 2023 02:03

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