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

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

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

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*

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

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

OBJECTIVETo study the influence of CD147 gene silencing on the expression of ANXA2, MMP-2 and TIMP-2 of thyroid medullary carcinoma TT cells and related biological characteristics.

METHODSProtein expression of CD147, ANXA2, MMP-2 and TIMP-2 was detected by immunocytochemistry.RNAi technology was used to identify the specific siRNA sequences and the optimal time point of effective inhibition of CD147 gene. The expression of ANXA2, MMP-2 and TIMP-2 at mRNA and protein levels was detected with RT-PCR and Western blot, respectively. MTT method was used to detect the proliferation of the TT cells, flow cytometry (FCM) to detect the cell cycle and apoptosis changes of TT cells and transwell chamber assays to document the influence of CD147 gene silencing on migration and invasion of the TT cells.

RESULTSThe protein expression of CD147, ANXA2, MMP-2 and TIMP-2 proteins was variable in the TT cells. Two siRNA sequences were identified to effectively silence CD147 gene in the TT cells, in which relative expression of MMP-2 was reduced at both mRNA and protein levels; although the expression of ANXA2 mRNA and protein did not change significantly. TIMP-2 protein expression markedly decreased in an absence of its mRNA expression. The proliferation of the TT cells was inhibited upon the CD147 gene silencing along with a significant increase of G(0)/G(1) phase cells and a decrease of G(2)/M phase cells.However, the proportion of the apoptotic cells in all experimental groups did not change. The number of the penetrating cells through the membrane filters did not show significant changes in all experimental groups in the Transwell chamber assays.

CONCLUSIONSThrough RNAi technology, two CD147 siRNA sequences are identified and shown to effectively inhibit CD147 gene expression of the TT cells. CD147 gene silencing leads to growth inhibition of the TT cells and alteration of the cell cycle. However, silencing CD147 does not significantly affect the apoptosis, migration and invasion of the TT cells.

Annexin A2 ; genetics ; metabolism ; Basigin ; genetics ; metabolism ; Carcinoma, Medullary ; metabolism ; pathology ; Cell Cycle ; Cell Proliferation ; Gene Expression Regulation, Neoplastic ; Gene Silencing ; Humans ; Matrix Metalloproteinase 2 ; genetics ; metabolism ; RNA, Messenger ; metabolism ; RNA, Small Interfering ; genetics ; Thyroid Neoplasms ; metabolism ; pathology ; Tissue Inhibitor of Metalloproteinase-2 ; genetics ; metabolism ; Transfection ; Tumor Cells, Cultured

Adult ; CD56 Antigen ; metabolism ; Carcinoma ; metabolism ; pathology ; surgery ; Carcinoma, Medullary ; pathology ; Carcinoma, Papillary ; metabolism ; pathology ; DNA-Binding Proteins ; metabolism ; Diagnosis, Differential ; Female ; Humans ; Paraganglioma ; metabolism ; pathology ; Thyroid Neoplasms ; metabolism ; pathology ; surgery ; Thyroidectomy ; methods ; Transcription Factors ; Triglycerides ; metabolism