Simultaneous presentation of giant pheochromocytoma, primary hyperparathyroidism, and mixed-medullary-papillary thyroid cancer in MEN 2A

Gupta, Vishal

doi:10.4103/2230-8210.113776

Cited by 3 publications

(3 citation statements)

References 10 publications

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“…In certain studies, RET mutations have been reported in MMFCC [ 4 ]. Cases associated with multiple endocrine neoplasia 2A (MEN2A) and multiple endocrine neoplasia 2B (MEN2B) [ 5 , 6 ] and a case in which a somatic lineage RET mutation [ 3 ] have also been reported. In this study, the preoperative germline RET mutation was negative; whereas the somatic RET mutation was positive.…”

Section: Discussionmentioning

confidence: 99%

Selpercatinib for treating recurrent mixed medullary and follicular cell-derived thyroid carcinoma: a case report

Kadoya,

Suganuma,

Matsubara

et al. 2024

surg case rep

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Background Mixed medullary and follicular cell-derived thyroid carcinoma (MMFCC) is characterized by the coexistence of follicular and C cell–derived tumour cell populations within the same lesion. Due to its rarity, its etiology and clinical course remain unclear, and treatment for advanced or recurrent cases has not been established. Case presentation We report a case of MMFCC treated with selpercatinib. The patient was a 69-year-old male presenting with tumors in the right thyroid lobe and in the upper mediastinum. Fine-needle aspiration (FNA) cytology of the right thyroid lobe tumor revealed a medullary carcinoma; germline RET mutations were not detected. After resection of the right thyroid lobe with central node dissection, rapid intraoperative diagnosis of the mediastinal mass confirmed malignancy, leading to total thyroidectomy with excision of the upper mediastinal tumor. Histologically, the tumor in the right thyroid lobe and the pretracheal lymph node revealed a mixture of medullary and follicular carcinoma components, diagnosed as MMFCC. The mediastinal lymph node exhibited only medullary carcinoma components. At 11 months postoperatively, computed tomography scans showed enlargement of the right supraclavicular and upper mediastinal lymph nodes. FNA cytology of the right supraclavicular lymph node suggested the recurrence of medullary thyroid carcinoma. The gene panel testing (The Oncomine Dx Target Test Multi-CDx system®, Thermo Fisher SCIENTIFIC) of metastatic lymph node revealed RET somatic mutation (M918T). Treatment with selpercatinib was initiated, and both the cervical and mediastinal lymph nodes showed a reduction in size. Conclusions We report a rare case of selpercatinib use for MMFCC. Since RET mutations may occur frequently in MMFCC, selpercatinib could be effective in treating MMFCC.

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Section: Discussionmentioning

confidence: 99%

Selpercatinib for treating recurrent mixed medullary and follicular cell-derived thyroid carcinoma: a case report

Kadoya,

Suganuma,

Matsubara

et al. 2024

surg case rep

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“…In the classic forms of MEN 1, hyperparathyroidism is usually the earliest clinical presentation [28]. MEN 2A syndrome is caused by germline RET proto-oncogene mutation and is composed of medullary thyroid cancer, pheochromocytoma, and parathyroid tumour [29].…”

Section: Aetiology Of Parathyroid Cancermentioning

confidence: 99%

“…W klasycznej postaci zespołu MEN 1, nadczynność przytarczyc jest zwykle pierwszą kliniczną manifestacją zespołu [28]. Zespół MEN 2A jest spowodowany mutacją germinalną protoonkogenu RET i obejmuje raka rdzeniastego tarczycy, pheochromocytoma i pierwotną nadczynność przytarczyc [29].…”

Section: Polish Versionunclassified

Pierwotna nadczynność przytarczyc w przebiegu raka przytarczyc — wyzwanie diagnostyczne i terapeutyczne

Dabrowska

Tarach

Zwolak

2015

Endokrynologia Polska

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Parathyroid carcinoma (PC) is a rare endocrine malignancy and the cause of primary hyperparathyroidism. It is usually associated with a high rate of local and distant recurrence. Laboratory findings and clinical symptoms may be similar to those in parathyroid adenoma. The histological features of PC may also be non-specific and the affected gland is often indistinguishable from a benign lesion. The proper diagnosis is commonly made months to years later when the disease recurs or metastases are present. Therefore, parathyroid carcinoma still remains a diagnostic and management challenge for many physicians. However, there are some features that, in combination, may help in diagnosis. Surgery still remains the only curative treatment, even in metastatic disease. In advanced, non-operable subjects, managing hypercalcaemia and controlling a tumour are the main goals. Morbidity is caused by hypercalcaemia rather than metastases. A multidisciplinary approach with experienced endocrinologists, pathologists, radiologists, nuclear medicine doctors, oncologists, and surgeons is needed to optimize patient outcome. StreszczenieRak przytarczyc (PC) jest rzadkim nowotworem złośliwym układu wewnątrzwydzielniczego, a także rzadką przyczyną pierwotnej nadczynności przytarczyc. Zazwyczaj wiąże się z wysokim odsetkiem miejscowych i odległych przerzutów. Wyniki badań laboratoryjnych i objawy kliniczne mogą przypominać te spotykane w przebiegu gruczolaków przytarczyc. Równie niespecyficzny jest obraz histopatologiczny raka przytarczyc, co powoduje trudności w diagnostyce różnicowej ze zmianami łagodnymi, będącymi gruczolakami. Właściwe rozpoznanie często jest stawiane z kilkumiesięcznym lub kilkuletnim opóźnieniem, w oparciu o nawrót choroby lub pojawiające się przerzuty. Mając na uwadze ten fakt, rak przytarczyc ciągle pozostaje wyzwaniem diagnostycznym i terapeutycznym dla wielu specjalistów. Jakkolwiek, wyróżnia się jednak pewne objawy, których obecność może pomóc w postawieniu właściwej diagnozy. Leczenie chirurgiczne pozostaje nadal jedyną skuteczną opcją terapeutyczną, nawet w sytuacji pojawienia się zmian przerzutowych. W zaawansowanych, nieoperacyjnych przypadkach głównym celem leczenia pozostaje obniżanie stężenia wapnia we krwi i kontrola wielkości guza. Śmiertelność związana z rakiem przytarczyc wynika raczej z hiperkalcemii, niż obecności przerzutów. W celu poprawy wyników leczenia, niezbędne jest podejście wielodyscyplinarne oraz współdziałanie wielu doświadczonych specjalistów: endokrynologów, patologów, radiologów, medyków nuklearnych, onkologów i chirurgów.

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Synchronous papillary-medullary thyroid microcarcinoma: a case report

Medam¹,

Castro²,

Alhassan³

et al. 2022

AME Case Rep

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Background Papillary thyroid carcinoma is the most common type of thyroid carcinoma, making up 85–90% of all thyroid carcinomas. Medullary thyroid carcinoma is the third most common type of thyroid carcinoma, making up less than 5% of all thyroid carcinomas. However, synchronous papillary-medullary thyroid carcinoma is exceedingly rare and has not been well described historically. There have been fewer than 40 cases reported in the current literature. Case Description In this case report we present a 65-year-old man with synchronous papillary-medullary thyroid carcinoma. A 65-year-old man presented with a symptomatic multinodular thyroid goiter. Ultrasound (US) confirmed bilateral thyroid nodules, and he was initially managed nonoperatively. Fine needle aspiration (FNA) biopsy of the left dominant nodule revealed atypia of undetermined significance (AUS) (Bethesda class III). Further assessment of the FNA specimen with ThyGeNEXT ® (mutation panel) revealed no mutations and the ThyraMIR ® (microRNA risk classifier) was negative, which classified the results as very highly likely to be benign. Due to worsening local compressive symptoms, a total thyroidectomy was performed. Final surgical pathology revealed incidental multicentric, multifocal micropapillary carcinoma foci from (0.1 to 0.5 cm), and a 0.3 cm medullary carcinoma in the left thyroid lobe on the background of nodular hyperplasia. Conclusions Synchronous papillary-medullary thyroid carcinoma is a rare finding that should be considered in patients with symptomatic multinodular thyroid goiters. It is important to report this case to increase awareness and improve our understanding and management of these unusual carcinomas in the future.

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Simultaneous presentation of giant pheochromocytoma, primary hyperparathyroidism, and mixed-medullary-papillary thyroid cancer in MEN 2A

Cited by 3 publications

References 10 publications

Selpercatinib for treating recurrent mixed medullary and follicular cell-derived thyroid carcinoma: a case report

Selpercatinib for treating recurrent mixed medullary and follicular cell-derived thyroid carcinoma: a case report

Pierwotna nadczynność przytarczyc w przebiegu raka przytarczyc — wyzwanie diagnostyczne i terapeutyczne

Synchronous papillary-medullary thyroid microcarcinoma: a case report

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