Pheochromocytoma: Inherited associations, bilaterality, and cortex preservation

Inabnet, William B.; Caragliano, P; Pertsemlidis, Demetrius

doi:10.1067/msy.2000.110846

Cited by 82 publications

(82 citation statements)

References 17 publications

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“…In eight patients (20%) phaeochromocytoma was the first manifestation of multiple endocrine neoplasia type 2, which is comparable with data that phaeochromocytoma may be diagnosed before medullary thyroid cancer in 9-27% [16][17][18]. However, Nguyen et al reported no phaeochromocytoma preceding MTC [9].…”

Section: Prace Oryginalnesupporting

confidence: 59%

Obraz kliniczny guzów chromochłonnych u nosicieli mutacji protoonkogenu RET — badanie jednoośrodkowe

Kotecka-Blicharz

Hasse-Lazar

Jurecka‐Lubieniecka

et al. 2016

Endokrynologia Polska

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Introduction: Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant genetic syndrome caused by germline mutation in RET proto-oncogene. The most common mutations are in a cysteine rich domain. Phaeochromocytoma will develop in approximately 50% of RET proto-oncogene carriers. Material and methods:The studied population consisted of 228 RET proto-oncogene mutation carriers. Monitoring for the diagnosis of phaeochromocytoma was carried out in all patients with established genetic status. Mean time of follow up was 138 months. Surveillance consisted of periodically performed clinical evaluation, 24-hour urinary determinations of total metanephrines complementary with imaging (CT, MR, MIBG scintigraphy). Results: Phaeochromocytoma developed in 41 patients (18% of all RET proto-oncogene mutations carriers). The mean age of diagnosis for the whole cohort was 43 years. In eight cases phaeochromocytoma was the first manifestation of the MEN 2 syndrome. Only eight (20%) patients were symptomatic at diagnosis of phaeochromocytoma. The mean size of the tumour was 4.3 cm. There was no extra-adrenal localisation. We observed one case of malignant phaeochromocytoma. Conclusions: In patients with MEN 2 syndrome phaeochromocytomas are usually benign adrenal tumours with high risk of bilateral development. Taking to account the latter risk and non-specific clinical manifestation of the neoplasm it is mandatory to screen all RET proto-oncogene mutations carriers for phaeochromocytoma. (Endokrynol Pol 2016; 67 (1): 54-58)

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Section: Prace Oryginalnesupporting

confidence: 59%

Obraz kliniczny guzów chromochłonnych u nosicieli mutacji protoonkogenu RET — badanie jednoośrodkowe

Kotecka-Blicharz

Hasse-Lazar

Jurecka‐Lubieniecka

et al. 2016

Endokrynologia Polska

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“…In the remaining 14 individuals, MTC was absent but they presented with PC (10 patients), HPT (2 patients) or PC + HPT (2 patients). They were also analyzed and included in this study since PTC and/or HPT can constitute the first manifestation of the MEN 2A syndrome in some cases (25). In all the cases, diagnosis of MTC, HPT and PC was based on documented pathological examination.…”

Section: Methodsmentioning

confidence: 99%

Evaluation of the role of RET polymorphisms/haplotypes as modifier loci for MEN 2, and analysis of the correlation with the type of RET mutation in a series of Spanish patients

Fernández

Navarro²,

Antiñolo³

et al. 2006

Int J Mol Med

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Abstract. Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant cancer syndrome, which is divided into three subtypes: MEN 2A, MEN 2B and familial medullary thyroid cancer (FMTC). Approximately 92% of MEN 2 cases are caused by mutations in exons 10, 11, 13-16 of the RET proto-oncogene. There exists inter-and intra-familial phenotypic variability among the MEN 2 families, even when the disease is caused by the same RET mutation, suggesting a role for genetic modifiers, such as polymorphisms/haplotypes. We have sought to determine the frequency and position of RET germline mutations in a cohort of 114 Spanish probands with any sign of MEN 2, and to search for putative modifier loci. Mutational screening of RET revealed 9 different mutations, present in 26 of the 114 probands (22.8%). In addition, distributions of 8 RET polymorphisms and the haplotypes comprising them, were studied in the context of the families positive for RET mutational screening, in order to evaluate them as genetic modifiers. The relationship between RET mutation type and presence of a polymorphism/haplotype was analyzed. The relationship between the presence of pheochromocytoma (PC) and/or hiperparathyroidism (HPT) in carriers of the same RET mutation, and the genotype for the specific variants was also studied. The results derived from those analyses revealed no associations of any variant/haplotype to a specific mutation or to the clinical presentation. Nevertheless, these observations do not permit us to exclude the possible role of other variants in RET or other related genes, in the final presentation of the disease.

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“…In contrast, sporadic pheochromocytomas are usually solitary and unilateral, and the extratumoral medulla is normal (22). MEN 2-related pheochromocytomas occur at a younger age than sporadic tumors and are usually benign; however, malignant transformation occurs in up to 4% of patients (23)(24)(25)(26). Pheochromocytoma is highly likely in any at-risk patient found to have elevated plasma levels of free metanephrines.…”

mentioning

confidence: 99%

RETProto-Oncogene: A Review and Update of Genotype–Phenotype Correlations in Hereditary Medullary Thyroid Cancer and Associated Endocrine Tumors

Kouvaraki

Shapiro

Perrier

et al. 2005

Thyroid

269

193

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Hereditary medullary thyroid carcinoma (MTC) is caused by autosomal dominant gain-of-function mutations in the RET proto-oncogene. Associations between specific RET mutations (genotype) and the aggressiveness of MTC and presence or absence of other endocrine neoplasms (phenotype) are well documented. Mutations in six exons (10, 11, 13, 14, 15, and 16) located in either cysteine-rich or tyrosine kinase domains cause one of three distinctive clinical subtypes: familial MTC, multiple endocrine neoplasia (MEN) type 2A (including variants with Hirschsprung's disease and cutaneous lichen amyloidosis), and MEN 2B. Hallmarks of MEN 2A include MTC, pheochromocytoma, and hyperparathyroidism. MEN 2B is associated with an earlier onset of MTC and pheochromocytoma, the absence of hyperparathyroidism, and the presence of striking physical stigmata (e.g., coarse facies, ganglioneuromatosis, and marfanoid habitus). Familial MTC is not associated with other endocrine neoplasms; however, the accurate distinction between familial MTC and MEN 2A may be difficult in kindreds with small size, incomplete histories, or a predominance of young individuals who may not have yet fully manifested the syndrome. Genetic testing detects greater than 95% of mutation carriers and is considered the standard of care for all first-degree relatives of patients with newly diagnosed MTC. Recommendations on the timing of prophylactic thyroidectomy and the extent of surgery are based upon a model that utilizes genotype-phenotype correlations to stratify mutations into three risk levels. 531

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Pheochromocytoma: Inherited associations, bilaterality, and cortex preservation

Cited by 82 publications

References 17 publications

Obraz kliniczny guzów chromochłonnych u nosicieli mutacji protoonkogenu RET — badanie jednoośrodkowe

Obraz kliniczny guzów chromochłonnych u nosicieli mutacji protoonkogenu RET — badanie jednoośrodkowe

Evaluation of the role of RET polymorphisms/haplotypes as modifier loci for MEN 2, and analysis of the correlation with the type of RET mutation in a series of Spanish patients

RETProto-Oncogene: A Review and Update of Genotype–Phenotype Correlations in Hereditary Medullary Thyroid Cancer and Associated Endocrine Tumors

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