MEN 2A syndrome – Multiple endocrine neoplasia with autosomal dominant transmission

Ungureanu, Sergiu; Șipitco, Natalia; Alexa, Zinaida; Gonţa, Veronica; Bujac, Mariana; Parnov, Mihail; Romanenco, Richarda

doi:10.1016/j.ijscr.2020.07.015

Cited by 4 publications

(3 citation statements)

References 10 publications

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“…In MEN 2 patients, pheochromocytomas are typically treated first, while thyroid medullary carcinoma can be performed after the pheochromocytoma mass is removed to avoid intraoperative catecholamine release ( 3 , 9 ). Our patient was under laparoscopic bilateral adrenalectomy and then referred to a thyroid medullary carcinoma surgery.…”

Section: Discussionmentioning

confidence: 99%

Synchronized Laparoscopic Bilateral Adrenalectomy for Pheochromocytoma in Multiple Endocrine Neoplasia Syndrome: A Case Report

Eslahi

Zeighami

Ahmed

et al. 2022

jkcvhl

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Pheochromocytomas are tumors producing catecholamines that arise from chromaffin cells in the adrenal medulla. They are usually benign in multiple endocrine neoplasia type 2 (MEN2) syndrome, but they tend to present bilaterally in 50–80% of the patients. Few researchers have reported success with simultaneous laparoscopic bilateral adrenalectomy. Hence, we report a 48-year-old woman who presented with a panic attack, headache, and abdominal discomfort that had started 10 years ago. The computed tomography (CT) scan showed a large bilateral cystic lesion in both adrenal glands in favor of pheochromocytomas (30 × 22 mm and 18 × 15 mm on the right side and 40 × 33 mm and 35 × 28 mm on the left side). The patient underwent bilateral laparoscopic adrenalectomy without intraoperative or postoperative complications. The total blood loss was 50 cc, and the operative time was 4 h. The histopathology of the specimen revealed pheochromocytomas of adrenal masses. In conclusion, our case demonstrates that synchronized laparoscopic bilateral adrenalectomy can be a safe and feasible treatment option for pheochromocytomas in MEN2 patients.

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Section: Discussionmentioning

confidence: 99%

Synchronized Laparoscopic Bilateral Adrenalectomy for Pheochromocytoma in Multiple Endocrine Neoplasia Syndrome: A Case Report

Eslahi

Zeighami

Ahmed

et al. 2022

jkcvhl

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“…The condition arises from a RET (rearranged during transfection variant) [ 6 ] gene variant on chromosome 10q11.2, which often results in medullary thyroid carcinoma, typically diagnosed before 35 years [ 7 – 9 ]. Pheochromocytoma, another manifestation of MEN2A, affects fewer than half of patients, yet bilateral pheochromocytoma in MEN2A is not uncommon, occurring in 50–80% of cases [ 10 , 11 ]. It typically remains asymptomatic or manifests years after the diagnosis of thyroid cancer [ 12 , 13 ].…”

Section: Introductionmentioning

confidence: 99%

Two sisters diagnosed with familial paraganglioma syndrome type 1 (FPGL1) and multiple endocrine neoplasia type 2A (MEN2A)

Stawarz,

Durzynska,

Galazka

et al. 2024

World J Surg Onc

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Background In clinical practice, genetic testing has become standard for many cancerous diseases. While a diagnosis of a single hereditary syndrome is not uncommon, the coexistence of two genetic diseases, even with partially common symptoms, remains unusual. Therefore, targeted next-generation sequencing (NGS), along with genetic consultation and imaging studies, is essential for every patient with confirmed paraganglioma. In this report, we present two sisters diagnosed with multiple endocrine neoplasia type 2 (MEN2A) and familial paraganglioma syndrome type 1 (FPGL1). Case presentation After presenting to the clinic with neck tumors persisting for several months, both patients underwent tumor removal procedures following imaging and laboratory studies. Pathological reports confirmed the diagnosis of paragangliomas. Subsequently, genetic testing, including NGS, revealed a mutation in the rearranged during transfection (RET) gene: the heterozygous change (c.2410G > A), (p.Val804Met), and a variant of the succinate dehydrogenase complex subunit D (SDHD) gene: (c.64 C > T), (p.Arg22Ter). Subsequently, thyroidectomy procedures were scheduled in both cases. Conclusion To the best of our knowledge, this is the first report presenting these two mutations in two related patients, resulting in distinctive genetic syndromes with similar manifestations. This underscores that although infrequent, multiple hereditary disorders may co-occur in the same individual.

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“…These cells normally produce small amounts of calcitonin, but produce larger amounts in MTC. Therefore, increases in calcitonin may be a confirmatory marker of disease before macroscopic nodules develop [ 2 , 6 ]. Genotypic variations in codon-specific RET mutations have been found to correlate directly to varying risk of development of MEN 2 and MEN 3 phenotypes.…”

Section: Introductionmentioning

confidence: 99%

Incidental detection of multiple endocrine neoplasia and medullary thyroid carcinoma before starting GLP-1 agonist: A case report

Glasgow,

Jiminez,

Garcia

et al. 2024

Heliyon

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MEN 2A syndrome – Multiple endocrine neoplasia with autosomal dominant transmission

Cited by 4 publications

References 10 publications

Synchronized Laparoscopic Bilateral Adrenalectomy for Pheochromocytoma in Multiple Endocrine Neoplasia Syndrome: A Case Report

Synchronized Laparoscopic Bilateral Adrenalectomy for Pheochromocytoma in Multiple Endocrine Neoplasia Syndrome: A Case Report

Two sisters diagnosed with familial paraganglioma syndrome type 1 (FPGL1) and multiple endocrine neoplasia type 2A (MEN2A)

Incidental detection of multiple endocrine neoplasia and medullary thyroid carcinoma before starting GLP-1 agonist: A case report

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