Children with <i><scp>MEN</scp>1</i> gene mutations may present first (and at a young age) with Cushing disease

Makri, Angeliki; Bonella, María Belén; Keil, Margaret F.; Hernández-Ramírez, Laura C; Paluch, Gabriella; Tirosh, Amit; Saldarriaga, Carolina; Chittiboina, Prashant; Marx, Stephen J.; Stratakis, Constantine A.; Lodish, Maya

doi:10.1111/cen.13796

Cited by 21 publications

(18 citation statements)

References 16 publications

(39 reference statements)

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“…For the patients and their parents, if available, DNA was extracted either from peripheral blood samples using the Maxwell 16 Blood DNA Purification Kit in a Maxwell 16 Instrument (Promega AS1015 and AS3050) or from saliva using the Oragene-Dx collection kit and the PrepIT-L2P DNA extraction kit (DNA Genotek OGD-500 and PT-L2P-45), according to the manufacturer's protocols. Additional studies in this cohort have been reported elsewhere (15)(16)(17)(18)(19)(20)(21)(22).…”

Section: Patients and Samplesmentioning

confidence: 83%

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Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

et al. 2020

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Context: The DICER1 syndrome is a multiple neoplasia disorder caused by germline mutations in the DICER1 gene. In DICER1 patients, aggressive congenital pituitary tumors lead to neonatal Cushing's disease (CD). The role of DICER1 in other corticotropinomas, however, remains unknown. Objective: To perform a comprehensive screening for DICER1 variants in a large cohort of CD patients, and to analyze their possible contribution to the phenotype. Design, setting, patients, and interventions: We included 192 CD cases: ten young-onset (age <30 years at diagnosis) patients were studied using a next generation sequencing panel, and 182 patients (170 pediatric and 12 adults) were screened via whole-exome sequencing. In seven cases, tumor samples were analyzed by Sanger sequencing. Results: Rare germline DICER1 variants were found in seven pediatric patients with no other known disease-associated germline defects or somatic DICER1 second hits. By immunohistochemistry, DICER1 showed nuclear localization in 5/6 patients. Variant transmission from one of the parents was confirmed in 5/7 cases. One patient had a multinodular goiter; another had a family history of melanoma; no other patients had a history of neoplasms. Martínez de LaPiscina et al. DICER1 Variants in Cushing's Disease Conclusions: Our findings suggest that DICER1 gene variants may contribute to the pathogenesis of non-syndromic corticotropinomas. Clarifying whether DICER1 loss-of-function is disease-causative or a mere disease-modifier in this setting, requires further studies. Clinical trial registration: ClinicalTrials.gov: NCT00001595.

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Section: Patients and Samplesmentioning

confidence: 83%

“…The Biocruces Bizkaia Health Research Institute included 10 probands (60% females), with mean age at diagnosis of 17.9 (7.5–29.0) years and median tumor size of 17.4 ( 9 – 20 ) mm. The NICHD cohort included 182 patients, 56.6% ( n = 103) females and 43.4% ( n = 79) males.…”

Section: Resultsmentioning

confidence: 99%

Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

et al. 2020

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“…Two different forms of MEN1, sporadic and familial, have been described[ 23 ]. The sporadic form presents with two of the three principal MEN1-related endocrine tumors (parathyroid adenoma, enteropancreatic tumor and pituitary tumor) within a single patient, while the familial form consists of MEN1 with at least one first-degree relative showing one of the endocrine characteristic tumors[ 24 - 27 ].…”

Section: Discussionmentioning

confidence: 99%

Multiple endocrine neoplasia type 1 combined with thyroid neoplasm: A case report and review of literatures

Xu¹,

Su²,

Sun³

et al. 2022

WJCC

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BACKGROUND Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary tumor syndrome inherited in an autosomal dominant manner and presents mostly as parathyroid, endocrine pancreas (such as gastrinoma) and anterior pituitary tumors. At present, papillary thyroid carcinoma (PTC) and nodular goiter are not regarded as components of MEN1. CASE SUMMARY A 35-year-old woman presented with MEN1 accompanied by coinstantaneous PTC and nodular goiter. The pathological diagnosis was PTC with cervical lymph node metastasis, nodular goiter, parathyroid cyst and adenomatoid hyperplasia. Genetic testing was performed and a MEN1 gene mutation was detected. The patient underwent unilateral lobectomy of the thyroid gland and surgical removal of the parathyroid tumors. At 18 mo of follow-up, ultrasonic examination of the neck showed no abnormality. Serum calcium and parathyroid hormone levels were normal. No new MEN1-associated tumors were detected. CONCLUSION The role of inactivating mutations of MEN1 gene in tumorigenesis of PTC and/or nodular goiter remains to be determined by more case reports and further research.

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“…Preoperative SPECT/CT is useful in localizing parathyroid cysts in most patients, with accuracy improving to 79% if it is interpreted in combination with cervical ultrasound images [26]. Two different forms of MEN1, sporadic and familial, have been described [27]. The sporadic form presents with two of the three principal MEN1-related endocrine tumors (parathyroid adenoma, enteropancreatic tumor and pituitary tumor) within a single patient, while the familial form consists of MEN1 with at least one rst-degree relative showing one of the endocrine characteristic tumors [28][29][30][31].…”

Section: Discussionmentioning

confidence: 99%

Multiple Endocrine Neoplasia Type 1 Combined With Papillary Thyroid Carcinoma and Nodular Goiter: A Case Report and Review of The Literature

Han

et al. 2020

Preprint

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Introduction: This is the first report of multiple endocrine neoplasia type 1 (MEN1) combined with papillary thyroid carcinoma (PTC) and nodular goiter in China. MEN1 is a rare hereditary tumor syndrome inherited in an autosomal dominant manner and presenting mostly as tumors of the parathyroid, endocrine pancreas (such as gastrinoma) and anterior pituitary. However, PTC and nodular goiter were not previously regarded as components.Patient concerns: We present a 35-year-old woman with MEN1 accompanied with coinstantaneous PTC and nodular goiter.Diagnosis: The pathological diagnosis was PTC with cervical lymph node metastasis, nodular goiter, parathyroid cyst and adenomatoid hyperplasia. Genetic analysis was performed and a germ-line MEN1 gene mutation was detected.Interventions: The patient underwent unilateral lobectomy of the thyroid gland and surgical removal of the parathyroid tumors.Outcomes: After 6 months of follow-up, ultrasonic examination of the patient’s neck showed no abnormality. Serum calcium and parathyroid hormone levels were normal.Conclusion: This is the first experience of a case of MEN1 combined with PTC and nodular goiter in China. MEN1 syndrome may have predisposed the present patient to PTC and nodular goiter. PTC and/or nodular goiter may be new components of MEN1. More cases are required to confirm this association.

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Children with MEN1 gene mutations may present first (and at a young age) with Cushing disease

Cited by 21 publications

References 16 publications

Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

Multiple endocrine neoplasia type 1 combined with thyroid neoplasm: A case report and review of literatures

Multiple Endocrine Neoplasia Type 1 Combined With Papillary Thyroid Carcinoma and Nodular Goiter: A Case Report and Review of The Literature

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