scholarly journals Late-Onset Medullary Thyroid Cancer in a Patient with a Germline RET Codon C634R Mutation

Diagnostics ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 1448
Author(s):  
Agnieszka Walczyk ◽  
Kajetan Zgubieński ◽  
Grzegorz Chmielewski ◽  
Kinga Hińcza-Nowak ◽  
Artur Kowalik ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
High Risk ◽  
Germline Mutation ◽  
Medullary Thyroid Cancer ◽  
Response To Therapy ◽  
American Thyroid Association ◽  
Prophylactic Thyroidectomy ◽  
Serum Calcitonin ◽  
Medullary Thyroid

Background: Multiple endocrine neoplasia type 2A (MEN2A) is a rare, hereditary syndrome resulting from a germline mutation in the RET proto-oncogene and characterized primarily by medullary thyroid cancer (MTC), pheochromocytoma (PHEO), and hyperparathyroidism. Types of RET mutation have been associated with age at onset, clinical outcomes of MTC, and the penetrance of other components. Patients classified as ‘high-risk’ by the American Thyroid Association (ATA), based on the aggressiveness of MTC and the penetrance of other components, are recommended to undergo early prophylactic thyroidectomy at age ≤ 5 years and to be screened for PHEO at age ≥ 11 years. Patients with RET codon C634R mutations have been classified as high-risk. Case presentation: The present study describes a 71-year-old woman newly diagnosed with hereditary MTC related to a RET C634R germline mutation. Her basal serum calcitonin level was high, but there was no evidence of distant metastases. Surgery revealed bilateral MTC with two metastatic lymph nodes. Because microscopic resection was incomplete and extranodal extension was observed, the patient underwent adjuvant external beam radiotherapy. Response to therapy was excellent. Follow-up after 1.5 years showed no evidence of disease or other manifestations of MEN2A. Conclusion: Despite RET C634R carriers being classified as high-risk by the ATA, this patient did not present with either distant MTC or PHEO until her seventies. To our knowledge, only one other patient has shown a similar late identification of a RET C634R mutation, but MTC could not be diagnosed because the patient was lost to follow-up. Further research is required to develop optimal protocols that could allow patients requiring prophylactic thyroidectomy to be differentiated from those who can be monitored closely without early surgery.

scholarly journals Metastatic Lymph Node Ratio for Predicting Recurrence in Medullary Thyroid Cancer

Cancers ◽  
2021 ◽  
Vol 13 (22) ◽  
pp. 5842
Author(s):  
Jinyoung Kim ◽  
Jun Park ◽  
Hyunju Park ◽  
Min Sun Choi ◽  
Hye Won Jang ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Lymph Node ◽  
Medullary Thyroid Cancer ◽  
Lymph Node Ratio ◽  
Serum Calcitonin ◽  
Free Survival ◽  
Medullary Thyroid ◽  
Node Ratio ◽  
Postoperative Serum

The lymph node ratio (LNR) has been investigated as a prognostic factor in many different types of cancers, including differentiated thyroid cancer; however, reports regarding medullary thyroid cancer (MTC) are limited. Therefore, this study aims to evaluate LNR as a risk factor for structural recurrence in patients with MTC. Medical records of patients treated for MTC in a single tertiary center between 1995 and 2017 were retrospectively reviewed. LNR is defined as the number of metastatic lymph nodes or lymph node metastases (LNM) divided by the number of retrieved lymph nodes or lymph node yield (LNY). In the survival analysis, recurrence-free survival was defined as the time from the date of total thyroidectomy to recurrence or last follow-up. To identify risk factors influencing structural recurrence, univariable and multivariable Cox proportional hazard models were used. A total of 132 patients were enrolled. The mean age of study participants was 49.7 years, and 86 patients (65%) were women. Structural recurrence was identified in 39 patients at the end of the study period, and the median follow-up period was 8.7 years. In univariable analyses, gross extra thyroidal extension, N stage, postoperative serum calcitonin and carcinoembryonic antigen (CEA) levels, and LNR were significant (p < 0.05) predictors of structural recurrence. In multivariable analysis, postoperative serum calcitonin, postoperative serum CEA, and LNR were identified as a predictor of disease-free survival (p < 0.05). LNR can potentially predict structural recurrence as a quantitative evaluation tool for lymph node metastasis in patients with MTC.

scholarly journals Long-Term Prognostic Value of the Response to Therapy Assessed by Laboratory and Imaging Findings in Patients with Differentiated Thyroid Cancer

Cancers ◽  
2021 ◽  
Vol 13 (17) ◽  
pp. 4338
Author(s):  
Michele Klain ◽  
Emilia Zampella ◽  
Leandra Piscopo ◽  
Fabio Volpe ◽  
Mariarosaria Manganelli ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
High Risk ◽  
Differentiated Thyroid Cancer ◽  
Response To Therapy ◽  
Whole Body ◽  
American Thyroid Association ◽  
Neck Ultrasound ◽  
Risk Of Recurrence

This study assessed the long-term predictive value of the response to therapy, evaluated by serum thyroglobulin (Tg) determination and neck ultrasound, and estimated the potential additional impact of diagnostic whole-body scan (WBS) in patients with differentiated thyroid cancer (DTC) treated with surgery and radioactive iodine (RAI) therapy. We retrospectively evaluated 606 DTC patients treated with surgery and RAI. Response to 131I therapy at 12 months was assessed by serum Tg measurement, neck ultrasound, and diagnostic WBS. According to American Thyroid Association (ATA) guidelines, patients were classified as having a low, intermediate or high risk of recurrence and at 12 months as having an excellent response (ER) or no-ER. Follow-up was then performed every 6–12 months with serum Tg determination and imaging procedures. With a median follow-up of 105 months (range 10–384), 42 (7%) events requiring further treatments occurred. Twenty-five patients had additional RAI therapy, 11 with structural disease in the thyroid bed, eight in both thyroid bed and neck lymph nodes, four had lung metastases and two had bone metastases. The other 17 patients had additional surgery for nodal disease followed by RAI therapy. The ATA intermediate and high risk of recurrence, post-operative and pre-RAI therapy Tg ≥ 10 ng/mL, and the absence of ER at 12 months were independent predictors of events. Diagnostic WBS at 12 months permitted the identification of only five recurrences among the 219 ER patients according to serum Tg levels and ultrasound. In DTC patients, the response to therapy at 12 months after RAI therapy could rely on serum Tg measurement and neck ultrasound, while diagnostic WBS was not routinely indicated in patients considered in ER.

scholarly journals SUN-LB82 Coexistence of Medullary Thyroid Cancer With Graves Disease: A Case Report

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Ogochukwu Okoli ◽  
Christine A Resta
Keyword(s):  
Systematic Review ◽  
Thyroid Cancer ◽  
Case Report ◽  
Thyroid Gland ◽  
Thyroid Carcinoma ◽  
Medullary Thyroid Cancer ◽  
Graves Disease ◽  
Serum Calcitonin ◽  
Medullary Thyroid

Abstract A 59 year old woman presented with enlarged thyroid, weight loss, and hot flushes. She had previously been treated for a thyroid problem in 2013 but was lost to follow up. On exam, she had a diffusely enlarged thyroid gland, without distinct nodule. She had brisk DTR’s and mild tremor. Lab results confirmed hyperthyroidism:TSH &lt;0.01 mIU/L (0.27 to 4.2) FT4 2.4 ng/dL (0.9 to 1.8) FT3 7.95 pg/mL (1.8 to 4.6). TSI was 307 % (&lt;140%). Thyroid ultrasound showed a few sub-centimeter nodules, and 2 clinically significant nodules on the right--1.5 x 1.2 x 1.4 cm, cystic with calcifications; and 1.3 x 0.7 x 1.2 cm hypoechoic. I-123 thyroid uptake/scan showed 61% uptake and 2 right sided cold nodules. FNA biopsy showed medullary thyroid carcinoma (MTC) with staining positive for calcitonin and negative for thyroglobulin. CT thyroid showed no adenopathy. Serum calcitonin was 71 pg/mL (&lt;5), and CEA was elevated 5.4 ng/mL (&lt;2.5). Work up was negative for pheochromocytoma and hyperparathyroidism.After pretreatment with methimazole, she underwent total thyroidectomy with bilateral TE groove dissection. Surgical pathology confirmed MTC pT1b pN1a. She was started on levothyroxine therapy post operatively. Discussion There are multiple reports of thyroid carcinoma (papillary and follicular) in Graves disease, but rarely MTC.1 A recent systematic review reports only 21 total cases of MTC in patients with hyperthyroidism, of whom 15 had Graves disease.2 MTC is derived from C-cells from the thyroid gland rather than from follicular cells. TSI, therefore, should not influence development or growth of MTC. Coexistence of the two conditions is likely coincidental rather than causative. ConclusionThyroid nodules in patients with Graves should be worked up as there is a possibility of co-existing thyroid carcinoma. This patient had hyperthyroidism with cold nodules on nuclear scan corresponding to sonographic nodules. Based on these results, she had biopsy leading to diagnosis of MTC. Follow up surgery lead to diagnosis of MTC at earlier stage and provided treatment for both conditions. References1. Staniforth, J. U. etal (2016). Thyroid carcinoma in Graves’ disease: a meta-analysis. International Journal of Surgery, 27, 118-125. 2. Sapalidis, K. etal (2019). A Rare Coexistence of Medullary Thyroid Cancer with Graves Disease: A Case Report and Systematic Review of the Literature. The American journal of case reports, 20, 1398

scholarly journals Indication and Timing of Thyroid Surgery for Patients with Hereditary Medullary Thyroid Cancer Syndromes

2006 ◽  
Vol 4 (2) ◽  
pp. 139-147 ◽  
Author(s):  
Jennifer B. Ogilvie ◽  
Electron Kebebew
Keyword(s):  
Thyroid Cancer ◽  
Multiple Endocrine Neoplasia ◽  
Medullary Thyroid Cancer ◽  
Autosomal Dominant ◽  
Point Mutations ◽  
Prophylactic Thyroidectomy ◽  
Medullary Thyroid ◽  
Hereditary Medullary Thyroid Cancer ◽  
Cancer Syndromes

Hereditary medullary thyroid cancer syndromes comprise familial medullary thyroid cancer (FMTC) and multiple endocrine neoplasia types 2A and 2B. Hereditary medullary thyroid cancers have an autosomal dominant pattern of inheritance and are caused by activating germline point mutations in the RET proto-oncogene. Evaluation of the onset, extent, and progression of hereditary medullary thyroid cancer associated with specific RET mutations has enabled clinicians to treat patients based on the level of risk associated with their specific mutation. Children identified by RET screening to be at risk for the development of medullary thyroid cancer can be treated with prophylactic thyroidectomy before developing the disease. This review covers the diagnosis, evaluation, timing of surgical management, and optimal follow-up of patients with hereditary medullary thyroid cancer syndromes.

scholarly journals Prophylactic thyroidectomy results among RET germline mutation bearers in families with hereditary forms of medullary thyroid cancer

2016 ◽  
Vol 12 (1) ◽  
pp. 22 ◽  
Author(s):  
Vladimir G. Polyakov ◽  
Ruslan V. Shishkov ◽  
Aleksei A. Ilyin ◽  
Severskaya N. Viktorovna ◽  
Natalia V. Ivanova ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Germline Mutation ◽  
Medullary Thyroid Cancer ◽  
Prophylactic Thyroidectomy ◽  
Medullary Thyroid

scholarly journals Surgical approach to medullary thyroid cancer

2007 ◽  
Vol 51 (5) ◽  
pp. 818-824 ◽  
Author(s):  
Catharina Ihre Lundgren ◽  
Leigh Delbridg ◽  
Diana Learoyd ◽  
Bruce Robinson
Keyword(s):  
Thyroid Cancer ◽  
Total Thyroidectomy ◽  
Medullary Thyroid Cancer ◽  
Prophylactic Surgery ◽  
Surgical Removal ◽  
Serum Calcitonin ◽  
Medullary Thyroid ◽  
Central Lymph Node Dissection ◽  
Familial Form ◽  
Men 2A

Medullary thyroid cancer (MTC) compromises 3-5% of all thyroid cancers and arises from parafollicular or calcitonin-producing C cells. It may be sporadic (75% of cases), or may occur as a manifestation of either the hereditary syndrome Multiple Endocrine Neoplasia type 2 (MEN 2A or MEN 2B) (25% of cases), or rarely as an isolated familial syndrome (FMTC). Complete surgical resection comprising in most cases total thyroidectomy with central lymph node dissection at an early stage of the disease is the only potential cure for MTC. The familial form of the disease, MEN-2A occupies a unique place in surgical history, having been the first disease where surgical removal of an affected organ was undertaken before the development of malignancy, solely on the basis of genetic testing. Total thyroidectomy prior to the development of invasive cancer completely avoids an otherwise lethal malignancy. Timing of prophylactic surgery is based on models that utilise genotype-phenotype correlations, which have now been stratified into three risk groups based on the specific codon involved. MTC should be followed with postoperative serial serum calcitonin levels to survey for persistent or recurrent disease as indicated by detectable levels. The challenge however, if calcitonin levels are increased, is to find the source of its production. The first localisation technique recommended would be ultrasound of the neck, since there is a high frequency of local recurrence and cervical node metastasis, followed by a total body CT scan and bone scintigraphy.

National Trends in the Surgical Treatment of Non-advanced Medullary Thyroid Cancer (MTC): An Evaluation of Adherence with the 2009 American Thyroid Association Guidelines

2016 ◽  
Vol 40 (12) ◽  
pp. 2930-2940 ◽  
Author(s):  
Eun Hae Estelle Chang ◽  
Waseem Lutfi ◽  
Joseph Feinglass ◽  
Alexandra Eudokia Reiher ◽  
Tricia Moo-Young ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Surgical Treatment ◽  
Medullary Thyroid Cancer ◽  
American Thyroid Association ◽  
Medullary Thyroid ◽  
National Trends
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