Thymic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1: A Comparative Study on 21 Cases Among a Series of 761 MEN1 from the GTE (Groupe des Tumeurs Endocrines)

Goudet, P.; Murat, A.; Cardot-Bauters, Catherine; Emy, Philippe; Baudin, Éric; Choplin, H.; Chapuis, Y; Kraimps, Jean‐Louis; Sadoul, Jean‐Louis; Tabarin, Antoine; Vergès, Bruno; Carnaille, B.; Niccoli-Sire, Patricia; Costa, Ana; Calender, Alain

doi:10.1007/s00268-009-9980-y

Cited by 114 publications

(181 citation statements)

References 48 publications

(64 reference statements)

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“…We demonstrated the greater lifetime likelihood of developing ZES/gastrinomas in men and of developing pituitary tumors in women. In contrast, both genders have a similar and very high probability of developing pHPT whereas, as expected, th-NET occurred mostly in men (7)(8)(9)(10). Furthermore, the diagnosis of MEN1 tended to be delayed in women, especially when pituitary tumors, and to some extent duodeno-pancreatic tumors, were the first lesions to occur in the course of the disease.…”

Section: Discussionmentioning

confidence: 80%

“…MEN1 disease is usually described as an autosomal dominant cancer syndrome with very high penetrance and a similar distribution in men and women (6). Nevertheless, studies focusing on MEN1-related th-NET, largely confined to men, show the importance of gender in at least this type of lesion (7)(8)(9)(10). There are large variations between studies in the sex ratio, depending on the center, the population size, and the type of lesion studied.…”

Section: Introductionmentioning

confidence: 98%

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Gender-related differences in MEN1 lesion occurrence and diagnosis: a cohort study of 734 cases from the Groupe d'étude des Tumeurs Endocrines

Goudet¹,

Bonithon‐Kopp²,

Murat³

et al. 2011

European Journal of Endocrinology

106

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Context: Multiple endocrine neoplasia type 1 (MEN1) disease is an autosomal dominant syndrome that is believed to equally affect men and women. This assumption has never been confirmed. Objective: The aims of this study were to evaluate the impact of gender on the prevalence of MEN1 lesions, on their lifetime probability of occurrence, and on the diagnosis of MEN1. Design: Data regarding a study of 734 cases of MEN1 from the multicenter 'Groupe d'étude des Tumeurs Endocrines' were analyzed. Results: There were 57.8% females. The prevalence and probability of pancreatic tumors were higher in males than in females (PZ0.06, PZ0.0004). This difference was due to gastrinomas. The prevalence and probability of developing pituitary tumors were significantly greater in females (P!0.001, P!0.0001). Thymic tumors were exclusively found in men. There were no significant gender differences in the prevalence and the probability of developing hyperparathyroidism, or adrenal and bronchial tumors, or in the proportion of positive genetic tests. A family history of MEN1 was more frequently found in men than in women at the time of diagnosis (PZ0.02). In the case of pituitary tumor, the proportion of patients diagnosed with MEN1 at the time of the first lesion was lower in women (44.2%) than in men (67.3%). Conclusion: The phenotype expression of the MEN1 disease gene was different in males and females. In female patients, the possibility of MEN1 is not sufficiently taken into account. Any patient presenting a lesion that belongs to the MEN1 spectrum, such as a pituitary tumor, should be closely questioned about their family history and should be tested for hypercalcemia.European Journal of Endocrinology 165 97-105

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Section: Discussionmentioning

confidence: 80%

Section: Introductionmentioning

confidence: 98%

Gender-related differences in MEN1 lesion occurrence and diagnosis: a cohort study of 734 cases from the Groupe d'étude des Tumeurs Endocrines

Goudet¹,

Bonithon‐Kopp²,

Murat³

et al. 2011

European Journal of Endocrinology

106

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“…Gender is recurrently shown to modify tumor development in patients, notably for pituitary or thNETs (8,11,12,13). Additionally, several families from various ethnic origins are reported to present recurrent thNETs (11,14,15). Nevertheless no direct genotype-phenotype correlation in MEN1 disease regarding the tumor types has ever been found (16,17,18).…”

Section: Introductionmentioning

confidence: 99%

“…Prolactinomas are specifically overrepresented in the Burin families, suggesting the existence of a founder effect (10). Gender is recurrently shown to modify tumor development in patients, notably for pituitary or thNETs (8,11,12,13). Additionally, several families from various ethnic origins are reported to present recurrent thNETs (11,14,15).…”

Section: Introductionmentioning

confidence: 99%

Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines study

Thévenon

Bourredjem

Faivre

et al. 2015

European Journal of Endocrinology

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Background: MEN1, which is secondary to the mutation of the MEN1 gene, is a rare autosomal-dominant disease that predisposes mutation carriers to endocrine tumors. Most studies demonstrated the absence of direct genotype-phenotype correlations. The existence of a higher risk of death in the Groupe d'é tude des Tumeurs Endocrines-cohort associated with a mutation in the JunD interacting domain suggests heterogeneity across families in disease expressivity. This study aims to assess the existence of modifying genetic factors by estimating the intrafamilial correlations and heritability of the six main tumor types in MEN1. Methods: The study included 797 patients from 265 kindred and studied seven phenotypic criteria: parathyroid and pancreatic neuroendocrine tumors (NETs) and pituitary, adrenal, bronchial, and thymic (thNET) tumors and the presence of metastasis. Intrafamilial correlations and heritability estimates were calculated from family tree data using specific validated statistical analysis software. Results: Intrafamilial correlations were significant and decreased along parental degrees distance for pituitary, adrenal and thNETs. The heritability of these three tumor types was consistently strong and significant with 64% (S.E.M.Z0.13; P!0.001) for pituitary tumor, 65% (S.E.M.Z0.21; P!0.001) for adrenal tumors, and 97% (S.E.M.Z0.41; PZ0.006) for thNETs.Conclusion: The present study shows the existence of modifying genetic factors for thymus, adrenal, and pituitary MEN1 tumor types. The identification of at-risk subgroups of individuals within cohorts is the first step toward personalization of care. Next generation sequencing on this subset of tumors will help identify the molecular basis of MEN1 variable genetic expressivity.

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“…The largest case series was over a period of 33 years with only 160 patients reported to the Surveillance, Epidemiology and End Results database. An association with multiple neuroendocrine neoplasia type 1 (MEN1) [1–3, 4–9] has been observed, with 25% of the NETs occurring in patients with the syndrome. Most of the identified cases were heavy smokers, though a clear association has not been established.…”

Section: Introductionmentioning

confidence: 99%

A case of madness resulting in a fortunate outcome; case report of a psychotic break as a result of cortisol secreting thymic neuroendocrine thymic tumor

Durrani

Malik

Ali

et al. 2018

Journal of Community Hospital Internal Medicine Perspectives

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Representing a mere 2–5% of the total thymic malignancies and 0.4% of total carcinoid tumors, primary thymic neuroendocrine tumors (NETs) are the zebras of the thymic neoplasms. They were initially characterized as ‘epithelial thymomas’; later, the term carcinoid tumors was coined by Rosai and Higa. These tumors are highly unpredictable in their presentation and prognosis. Coupled with variable clinical presentation, rare pathologic diagnosis and absence of diagnostic and prognostic parameters, it is a challenge for both patients and clinicians. Treatment entails local definitive therapy, symptom control and systemic chemoradiation given either pre or post operatively based on staging and resectability. We hereby report a peculiar case of psychosis that likely resulted from one such rare tumor.

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Thymic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1: A Comparative Study on 21 Cases Among a Series of 761 MEN1 from the GTE (Groupe des Tumeurs Endocrines)

Cited by 114 publications

References 48 publications

Gender-related differences in MEN1 lesion occurrence and diagnosis: a cohort study of 734 cases from the Groupe d'étude des Tumeurs Endocrines

Gender-related differences in MEN1 lesion occurrence and diagnosis: a cohort study of 734 cases from the Groupe d'étude des Tumeurs Endocrines

Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines study

A case of madness resulting in a fortunate outcome; case report of a psychotic break as a result of cortisol secreting thymic neuroendocrine thymic tumor

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