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Clinical features of multiple endocrine neoplasia 2B in Case 1. (A) Neuromas of the tongue. (B) A neuroma of an eyelid (surrounded by a circle). (C) Spider fingers (marfanoid habitus).
Source publication
Multiple endocrine neoplasia (MEN) with medullary thyroid carcinoma (MTC) is associated with rearranged during transfection (RET) mutations. The authors encountered four cases of MTC-related MEN type 2B (MEN2B) with RET codon M918T mutation in one family. Case 1 included a 19 year-old male diagnosed with MTC with lung metastases. Genetic testing re...
Contexts in source publication
Context 1
... 1. The first case was that of a 19-year-old male presenting with cervical swelling, dyspnea and chronic diarrhea. Peculiar physical features included neuromas of the tongue (Fig. 1A) and eyelid (Fig. 1B), as well as marfanoid habitus (Fig. 1C). A blood test revealed high levels of carcinoembryonic antigen (CEA) and calcitonin (Ctn). Computed tomography (CT) showed unresectable tumors of the thyroid, bilateral neck lymphadenopathy ( Fig. 2A) and multiple nodules in both lungs (Fig. 2B). The trachea was narrowed and ...
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... 1. The first case was that of a 19-year-old male presenting with cervical swelling, dyspnea and chronic diarrhea. Peculiar physical features included neuromas of the tongue (Fig. 1A) and eyelid (Fig. 1B), as well as marfanoid habitus (Fig. 1C). A blood test revealed high levels of carcinoembryonic antigen (CEA) and calcitonin (Ctn). Computed tomography (CT) showed unresectable tumors of the thyroid, bilateral neck lymphadenopathy ( Fig. 2A) and multiple nodules in both lungs (Fig. 2B). The trachea was narrowed and deviated due to a ...
Context 3
... 1. The first case was that of a 19-year-old male presenting with cervical swelling, dyspnea and chronic diarrhea. Peculiar physical features included neuromas of the tongue (Fig. 1A) and eyelid (Fig. 1B), as well as marfanoid habitus (Fig. 1C). A blood test revealed high levels of carcinoembryonic antigen (CEA) and calcitonin (Ctn). Computed tomography (CT) showed unresectable tumors of the thyroid, bilateral neck lymphadenopathy ( Fig. 2A) and multiple nodules in both lungs (Fig. 2B). The trachea was narrowed and deviated due to a thyroid mass (Fig. 2C). Histologic ...
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Introduction:
Patients with multiple endocrine neoplasia type 2A (MEN2A) harboring a pathological variant in the RET gene are characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism. Although pheochromocytoma is currently defined as a malignant tumor, MEN2A-associated pheochromocytoma is known to have a small...
Citations
Inherited forms of medullary thyroid carcinoma (MTC) can cause serious problems in diagnosis and follow-up. Family screening is performed, and prophylactic thyroidectomy at an appropriate age can be life-saving. This study aimed to investigate the diagnostic, clinical, laboratory characteristics, and treatment methods of cases with rearranged during transfection (RET) mutation in the childhood age group. Patients diagnosed with hereditary MTC and patients who were evaluated by detecting MTC and/or RET mutations in their families were included in this study. Nine cases from 6 families were included in the study. Seven patients were evaluated as a result of screening, whereas 2 patients, one of whom was MEN2B, were symptomatic. Prophylactic thyroidectomy was performed in 7 cases. Medullary microcarcinoma was found in all, and additional papillary thyroid carcinoma in one. An inoperable tumor was detected in one patient, and sorafenib treatment was applied. A very heterogeneous clinical presentation can be seen in a group of pediatric patients with RET mutation. In rare RET mutations, the genotype-phenotype relationship is still unclear, and different clinical pictures can be seen. Although prophylactic thyroidectomy is life-saving, it can cause iatrogenic hypothyroidism and hypoparathyroidism. Concomitant papillary microcarcinomas may occur in very young children with germline RET mutation.
