Medullary thyroid carcinoma as manifestation of the loss of heterozygosity in a patient with MEN1

Velazquez, Gloria Beatriz Aranda; Mora, Mireia; Martı́nez, Daniel; Oriola, Josep; Rabinovich, Irene Halperin

doi:10.1016/j.endonu.2016.03.005

Cited by 2 publications

(5 citation statements)

References 4 publications

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“…To our knowledge only two cases of MTC in a patient with MEN1 have been reported so far . At variance with our case, the patient recently reported by Aranda Velazchez et al carried a MEN1 germline mutation and LOH of the MEN1 gene in the MTC, suggesting that the thyroid tumor occurred as part of the MEN1 syndrome.…”

contrasting

confidence: 66%

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Incidental occurrence of metastatic medullary thyroid carcinoma in a patient with multiple endocrine neoplasia type 1 carrying germline MEN1 and somatic RET mutations

Cetani

Pardi

Berardi

et al. 2017

Journal of Surgical Oncology

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contrasting

confidence: 66%

“…We hereby describe a case of concurrent MEN 1 syndrome and metastatic medullary thyroid cancer, a combination of neoplasms previously described only in two cases …”

mentioning

confidence: 92%

Incidental occurrence of metastatic medullary thyroid carcinoma in a patient with multiple endocrine neoplasia type 1 carrying germline MEN1 and somatic RET mutations

Cetani

Pardi

Berardi

et al. 2017

Journal of Surgical Oncology

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“…To date, only the patient described by Aranda et al was certainly a case of MTC as a manifestation of LOH of the MEN 1 gene. 6 The other three cases, including ours, were probably incidental, sporadic cancers. That said, the thyroid gland could become a target to examine periodically in the follow-up of patients with MEN 1 syndrome.…”

Section: Discussionmentioning

confidence: 58%

“…No genetic tests were carried out, so nobody knows whether this MTC was sporadic or related to MEN 1 syndrome. Aranda 6 described a similar case two years later: a 44-year-old Spanish woman with familial MEN 1 syndrome and the same neuroendocrine neoplasms was incidentally found to have MTC during the histological analysis of her thyroid specimen. Genetic testing revealed LOH of the MEN 1 gene in MTC, with no evidence of any RET mutation, suggesting that the MTC occurred as part of the MEN 1 syndrome.…”

Section: Discussionmentioning

confidence: 88%

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<p>Medullary Thyroid Carcinoma in a Patient with MEN 1 Syndrome. Case Report and Literature Review</p>

Friziero¹,

Dalt²,

Piotto³

et al. 2020

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Medullary thyroid cancer (MTC) is typically associated with multiple endocrine neoplasia type 2 syndrome (MEN 2), but not with multiple endocrine neoplasia type 1 (MEN 1). We report a very rare case of MTC in a patient with MEN 1 syndrome. A 60-year-old Caucasian woman with sporadic MEN 1 syndrome was admitted in October 2018 for recurrent hyperparathyroidism unresponsive to medical therapy. Her medical history included the diagnosis of a non-functioning pancreatic neuroendocrine tumor (NF-pNET) of the head of the pancreas 1.5 cm in size in 2001, and subtotal parathyroidectomy for uncontrolled hyperparathyroidism due to bilateral parathyroid hyperplasia in the same year. This history prompted genetic studies, and MEN 1 syndrome was confirmed. Family screening was performed in first-degree relatives, with negative results. Other typical clinical manifestations of MEN 1 syndrome were ruled out. In November 2018, the patient underwent excision of the residual left inferior parathyroid, extended to include the left thyroid lobe, for recurrent uncontrolled hyperparathyroidism. The pathologist identified MTC and adenoma of the parathyroid gland. Genetic tests were performed to identify any RET mutation, with negative results. The patient underwent total thyroidectomy about 6 months later, and the subsequent histological report showed only focal reactive C-cell hyperplasia of the thyroid. A literature review identified only three previously published cases of MTC coexisting with MEN 1 syndrome. This association may have two etiological hypotheses: either a sporadic MTC arising in a patient with MEN 1 syndrome, or a rare case of medullary cancer linked to a MEN 1 gene mutation.

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Medullary thyroid carcinoma as manifestation of the loss of heterozygosity in a patient with MEN1

Cited by 2 publications

References 4 publications

Incidental occurrence of metastatic medullary thyroid carcinoma in a patient with multiple endocrine neoplasia type 1 carrying germline MEN1 and somatic RET mutations

Incidental occurrence of metastatic medullary thyroid carcinoma in a patient with multiple endocrine neoplasia type 1 carrying germline MEN1 and somatic RET mutations

<p>Medullary Thyroid Carcinoma in a Patient with MEN 1 Syndrome. Case Report and Literature Review</p>

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