Cases of simultaneously occurring medullary thyroid carcinoma (MTC) and lymphoma are extremely rare. An 84-year-old woman visited the hospital due to dyspnea, resulting from rapidly aggravated enlarged neck mass. Ultrasonography revealed two lesions in the thyroid and they were diagnosed as concurrent medullary thyroid carcinoma and diffuse large B cell lymphoma after total thyroidectomy. A few cases simultaneously diagnosed with MTC and systemic lymphoma have been reported. However, the coexistence of MTC and primary thyroid lymphoma is extremely rare.
Aged, 80 and over ; Carcinoma, Medullary ; Dyspnea ; Female ; Humans ; Lymphoma ; Lymphoma, B-Cell ; Neck ; Thyroid Gland ; Thyroid Neoplasms ; Thyroidectomy ; Ultrasonography

OBJECTIVETo investigate the clinical features and mutations of RET proto-oncogene in a pedigree affected with multiple endocrine neoplasia type 2A (MEN2A).

METHODSClinical data of the family members was collected. Genomic DNA from peripheral blood leukocytes were extracted and subjected to PCR amplification. Exons 8, 10, 11, 13, 14, 15, 16 of the RET gene was sequenced.

RESULTSA missense mutation p.C634W was detected in 8 members from the family. Among them, 3 were diagnosed with pheochromocytoma, 1 with medullary thyroid carcinoma, 1 with medullary thyroid carcinoma and pheochromocytoma, 1 with medullary thyroid carcinoma and hyperparathyroidism. One member was found with thyroid enlargement but refused further examination, and another one was identified as carrier of the RET gene mutation.

CONCLUSIONA p.C634W mutation has been detected in a family affected with MEN2A, in which most carriers have developed clinical symptoms. RET mutation detection should be routinely performed for families affected with MEN2A.

Adult ; Aged ; Base Sequence ; Carcinoma, Medullary ; genetics ; Carcinoma, Neuroendocrine ; genetics ; Child ; Child, Preschool ; Exons ; genetics ; Family Health ; Female ; Genetic Predisposition to Disease ; genetics ; Humans ; Male ; Middle Aged ; Multiple Endocrine Neoplasia Type 2a ; genetics ; Mutation, Missense ; Pedigree ; Pheochromocytoma ; genetics ; Proto-Oncogene Proteins c-ret ; genetics ; Sequence Analysis, DNA ; methods ; Thyroid Neoplasms ; genetics

Adult ; Base Sequence ; Carcinoma, Medullary ; congenital ; genetics ; surgery ; Female ; Genetic Testing ; Humans ; Male ; Molecular Sequence Data ; Multiple Endocrine Neoplasia Type 2a ; genetics ; surgery ; Proto-Oncogene Proteins c-ret ; genetics ; Thyroid Neoplasms ; genetics ; surgery

Neuroendocrine lesions of the thyroid are rare. The most common types are medullary thyroid carcinomas (MTCs) and C-cell hyperplasia. MTCs originate from thyroid parafollicular cells that secrete calcitonin which serves as a serum marker of MTCs. Here, the rare case of a calcitonin-negative neuroendocrine tumor (NET) derived from follicular lesions of the thyroid is described. A 34-year-old man presented at our hospital for the surgical management of an incidental thyroid nodule that was observed on an ultrasound sonography (USG) of the neck. Initially, USG-guided aspiration cytology was performed, and a MTC was suspected. The expressions of thyroglobulin and thyroid transcription factor-1, which are thyroid follicular cell markers, and synaptophysin and chromogranin A, which are neuroendocrine markers, was confirmed following surgical pathology. However, the staining of calcitonin, a marker of MTCs, was not observed. A nonmedullary NET of the thyroid is uncommon, and the distinction between calcitonin-negative NETs and MTCs of the thyroid may be important due to differences in their clinical courses and management.
Adult ; Calcitonin ; Carcinoma, Medullary ; Chromogranin A ; Humans ; Hyperplasia ; Neck ; Neuroendocrine Tumors* ; Pathology, Surgical ; Synaptophysin ; Thyroglobulin ; Thyroid Gland* ; Thyroid Neoplasms ; Thyroid Nodule ; Ultrasonography ; Biomarkers

Carcinoma, Medullary ; pathology ; Duodenal Neoplasms ; pathology ; Humans

Carcinoma, Medullary ; metabolism ; Carcinoma, Neuroendocrine ; Humans ; NAD(P)H Dehydrogenase (Quinone) ; metabolism ; NADP ; metabolism ; Neoplasm Proteins ; metabolism ; Prognosis ; Thyroid Neoplasms ; metabolism

Granular cell tumor (GCT) is a rare tumor of Schwann cell origin. While this tumor can occur anywhere in the body, GCT of the thyroid gland is very rare. This tumor is benign, despite showing grossly and histologically malignant features, and should be differentiated from oncocytic/Hurthle cell neoplasm and medullary carcinoma of thyroid. Immunohistochemistry can confirm the final diagnosis and differentiate from other tumors and cell types. We report on a GCT of thyroid in a 46-year-old woman with medical history of right breast cancer and review of literatures.
Breast Neoplasms ; Carcinoma, Medullary ; Diagnosis ; Female ; Granular Cell Tumor* ; Humans ; Immunohistochemistry ; Middle Aged ; Thyroid Gland*

Paraganglioma is an uncommon and slowly-growing benign neuro-endocrine tumor originating from the extra-adrenal paraganglia. The most common site of head and neck paraganglioma is the carotid body. Paraganglioma of thyroid gland is a rare disease, and is hard to diagnose preoperatively since the pathologic features are similar to thyroid neoplasm, especially to medullary carcinoma. Occasionally, multiple paragangliomas can be found in the body. To our knowledge, there are two cases of synchronous carotid body tumor with thyroid paraganglioma that have been reported to date. We report a case of 34-year-old female with carotid body paraganglioma synchronous with intra-thyroid paragangloma, which was misdiagnosed as papillary thyroid carcinoma in the preoperative evaluation. After the tumors were successfully excised, there were no signs of complications and the patient has survived the 2-year-follow-up period without recurrence.
Adult ; Carcinoma, Medullary ; Carotid Body ; Carotid Body Tumor* ; Female ; Head ; Humans ; Neck ; Paraganglioma* ; Rare Diseases ; Recurrence ; Thyroid Gland ; Thyroid Neoplasms

Metastasis to the primary thyroid carcinoma is extremely rare. We report here a case of colonic adenocarcinoma metastasis to medullary thyroid carcinoma in a 53-yr old man with a history of colon cancer. He showed a nodular lesion, suggesting malignancy in the thyroid gland, in a follow-up examination after colon cancer surgery. Fine needle aspiration biopsy (FNAB) of the thyroid gland showed tumor cell clusters, which was suspected to be medullary thyroid carcinoma (MTC). The patient underwent a total thyroidectomy. Using several specific immunohistochemical stains, the patient was diagnosed with colonic adenocarcinoma metastasis to MTC. To the best of our knowledge, the present patient is the first case of colonic adenocarcinoma metastasizing to MTC. Although tumor-tumor metastasis to primary thyroid carcinoma is very rare, we still should consider metastasis to the thyroid gland, when a patient with a history of other malignancy presents with a new thyroid finding.
Adenocarcinoma/pathology/surgery ; Biopsy, Fine-Needle ; Carcinoma, Medullary/diagnosis/radiography/*secondary ; Colonic Neoplasms/*pathology/surgery ; Humans ; Male ; Middle Aged ; Neoplasms, Second Primary/*diagnosis ; Thyroid Gland/pathology ; Thyroid Neoplasms/diagnosis/radiography/*secondary ; Thyroid Nodule/diagnosis

Translocation renal cell carcinoma (RCC) is a family of rare tumors recently identified in the pediatric and young adult population. We report the first case of a young woman from French West Indies with sickle cell anemia who developed a translocation RCC t(6;11)(p21;q12). Usually people with the sickle cell condition are known to develop renal medullary carcinoma (RMC). To our knowledge, this is the first case described in the literature of a translocation RCC associated with sickle cell disease. Here we discuss the relation between translocation RCC, RMC, and sickle cell disease.
Anemia, Sickle Cell* ; Carcinoma, Medullary ; Carcinoma, Renal Cell* ; Female ; Hemoglobin, Sickle ; Humans ; Kidney Neoplasms ; West Indies ; Young Adult