INTRODUCTION Medullary thyroid carcinoma may occur in a sporadic (s-medullary thyroid carcinoma, 75%) or in a multiple endocrine neoplasia type 2 form (MEN2, 25%). These clinical forms differ in many ways, as s-medullary thyroid carcinoma cases are RET-negative in the germline and are typically diagnosed later than medullary thyroid carcinoma in MEN2 patients. In this study, a set of cases with...

Medical records of 228 patients who had undergone thyroid surgery were studied. There were 179 females and 49 males with mean age of 33-8 years. Pre-op. diagnosis was cold nodule in 4. 4 %. Pathology diagnosis was simple goiter in 54%, adenoma in 23%, thyroid cancer in 15% and colloid cyst in 5.3% of the patients. Among carcinomas 68% were papillary, 29% follicular and 3% medullary. There were1...

OBJECTIVE To evaluate the impact of genetic testing in the management of familial multiple endocrine neoplasia 2A patients. DESIGN Retrospective study. SETTING University teaching hospital, Hong Kong. PATIENTS Twenty-two patients from eight multiple endocrine neoplasia 2A families underwent prophylactic total thyroidectomy based on a positive RET mutation genetic testing. All mutations we...

Hypercalcitoninemia has frequently been reported as a marker for medullary thyroid carcinoma. Currently, calcitonin measurements are mostly useful in the evaluation of tumor size and progression, and as an index of biochemical improvement of medullary thyroid carcinomas. Although measurement of calcitonin is a highly sensitive method for the detection of medullary thyroid carcinoma, it presents...

CONTEXT Distinction of medullary carcinoma of the large intestine from other cytokeratin (CK) 7⁻/CK20⁻ carcinomas can be challenging when working on a tumor of unknown primary because the majority of medullary carcinomas are negative for CK7, CK20, and CDX2. OBJECTIVE To investigate the expression of cadherin-17 and SATB-2 and other markers in medullary carcinomas of the large intestine and c...

BACKGROUND Historically, female breast carcinoma has been viewed as an etiologically homogeneous disease associated with rapidly increasing incidence rates until age 50 years, followed by a slower rate of increase among older women. More recent studies, however, have shown distinct age incidence patterns for female breast cancer when stratified by estrogen receptor (ER) expression and/or histop...

BACKGROUND The involvement of the testis by metastatic medullary thyroid carcinoma has never been described before. We describe the first case of metastatic medullary thyroid carcinoma affecting testis and inguinal lymph nodes. CASE PRESENTATION A 73-year-old Caucasian man was referred to undergo urologic surgery due to a painless nodule in the right testis and an homolateral inguinal lymphoa...

BACKGROUND Nevoid basal cell carcinoma syndrome (NBCCS) is a rare, inheritable, multisystem disorder characterized by numerous basal cell carcinomas (BCCs), maxillary keratocyst, and musculoskeletal malformations. Occasionally, it is associated with malignancies like rhabdomyoma, melanoma, and sinonasal undifferentiated carcinoma, to name a few. METHODS A patient presented with NBCCS with a m...

Medullary carcinoma is a rare breast carcinoma with a syncytial growth pattern and high-grade cytology. It can be difficult to diagnose and may be missed on conventional imaging as the findings may overlap with benign lesions i.e. fibroadenomas. The authors report a case of a 25-year-old female who presented with multifocal breast lumps diagnosed with medullary carcinoma and fibroadenomas. Imag...

Medullary thyroid carcinoma currently accounts for 5-8% of all thyroid cancers. The clinical course of this disease varies from extremely indolent tumors that can go unchanged for years to an extremely aggressive variant that is associated with a high mortality rate. As many as 75% of all medullary thyroid carcinomas are sporadic, with an average age at presentation reported as 60 years, and th...