ABSTRACT
ABSTRACT Objective: Initial diagnosis of medullary thyroid carcinoma (MTC) is frequently associated with advanced stages and a poor prognosis. Thus, the need for earlier diagnoses and detection in relatives at risk for the disease has led to increased use of RET genetic screening. Subjects and methods: We performed RET screening in 247 subjects who were referred to the Brazilian Research Consortium for Multiple Endocrine Neoplasia (BRASMEN) Center in the State of Ceará. Direct genetic sequencing was used to analyze exons 8, 10, 11, and 13-16 in MTC index cases and specific exons in at risk relatives. Afterward, clinical follow-up was offered to all the patients with MTC and their affected relatives. Results: RET screening was performed in 60 MTC index patients and 187 at-risk family members. At the initial clinical assessment of the index patients, 54 (90%) were diagnosed with apparently sporadic disease and 6 (10%) diagnosed with hereditary disease. After RET screening, we found that 31 (52%) index patients had sporadic disease, and 29 (48%) had hereditary disease. Regarding at-risk relatives, 73/187 were mutation carriers. Mutations in RET codon 804 and the rare p.M918V mutation were the most prevalent. Conclusions: Performing RET screening in Ceará allowed us to identify a different mutation profile in this region compared with other areas. RET screening also enabled the diagnosis of a significant number of hereditary MTC patients who were initially classified as sporadic disease patients and benefited their relatives, who were unaware of the risks and the consequences of bearing a RET mutation.
Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Aged , Aged, 80 and over , Young Adult , Thyroid Neoplasms/diagnosis , Thyroid Neoplasms/genetics , Germ-Line Mutation/genetics , Carcinoma, Neuroendocrine/diagnosis , Carcinoma, Neuroendocrine/genetics , Proto-Oncogene Proteins c-ret/genetics , Genetic Carrier Screening/methods , Time Factors , Brazil , Thyroid Neoplasms/pathology , Immunohistochemistry , Transfection/methods , Gene Rearrangement/genetics , Reproducibility of Results , Risk Factors , Age Factors , Carcinoma, Neuroendocrine/pathology , Risk Assessment , Early Detection of Cancer , Genetic Association StudiesABSTRACT
OBJECTIVE: Initial diagnosis of medullary thyroid carcinoma (MTC) is frequently associated with advanced stages and a poor prognosis. Thus, the need for earlier diagnoses and detection in relatives at risk for the disease has led to increased use of RET genetic screening. SUBJECTS AND METHODS: We performed RET screening in 247 subjects who were referred to the Brazilian Research Consortium for Multiple Endocrine Neoplasia (BRASMEN) Center in the State of Ceará. Direct genetic sequencing was used to analyze exons 8, 10, 11, and 13-16 in MTC index cases and specific exons in at risk relatives. Afterward, clinical follow-up was offered to all the patients with MTC and their affected relatives. RESULTS: RET screening was performed in 60 MTC index patients and 187 at-risk family members. At the initial clinical assessment of the index patients, 54 (90%) were diagnosed with apparently sporadic disease and 6 (10%) diagnosed with hereditary disease. After RET screening, we found that 31 (52%) index patients had sporadic disease, and 29 (48%) had hereditary disease. Regarding at-risk relatives, 73/187 were mutation carriers. Mutations in RET codon 804 and the rare p.M918V mutation were the most prevalent. CONCLUSIONS: Performing RET screening in Ceará allowed us to identify a different mutation profile in this region compared with other areas. RET screening also enabled the diagnosis of a significant number of hereditary MTC patients who were initially classified as sporadic disease patients and benefited their relatives, who were unaware of the risks and the consequences of bearing a RET mutation.
Subject(s)
Carcinoma, Neuroendocrine/diagnosis , Carcinoma, Neuroendocrine/genetics , Genetic Carrier Screening/methods , Germ-Line Mutation/genetics , Proto-Oncogene Proteins c-ret/genetics , Thyroid Neoplasms/diagnosis , Thyroid Neoplasms/genetics , Adolescent , Adult , Age Factors , Aged , Aged, 80 and over , Brazil , Carcinoma, Neuroendocrine/pathology , Early Detection of Cancer , Female , Gene Rearrangement/genetics , Genetic Association Studies , Humans , Immunohistochemistry , Male , Middle Aged , Reproducibility of Results , Risk Assessment , Risk Factors , Thyroid Neoplasms/pathology , Time Factors , Transfection/methods , Young AdultABSTRACT
Adenoid cystic carcinoma is a common malignant neoplasm originated from salivary glands. The clinical and pathological findings typical of this tumor include slow growth, perineural invasion, and potential local recurrence. It accounts for nearly 2% to 4% of head and neck area tumors. In minor salivary glands it usually affects the palate. We described herein the case of a patient who presented a posterior tongue lesion, which was treated with surgery and radiotherapy as additional treatment. We also carried out a brief literature review on the subject.