Familial Thyroid Cancer Research Articles

Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer.

Familial non-medullary thyroid carcinoma (FNMTC) is a type of thyroid cancer characterized by genetic susceptibility, representing approximately 5% of all non-medullary thyroid carcinomas. While some cases of FNMTC are associated with familial multi-organ tumor predisposition syndromes, the majority occur independently. The genetic mechanisms underlying non-syndromic FNMTC remain unclear. Initial studies utilized SNP linkage analysis to identify susceptibility loci, including the 1q21 locus, 2q21 locus, and 4q32 locus, among others. Subsequent research employed more advanced techniques such as Genome-wide Association Study and Whole Exome Sequencing, leading to the discovery of genes such as IMMP2L, GALNTL4, WDR11-AS1, DUOX2, NOP53, MAP2K5, and others. But FNMTC exhibits strong genetic heterogeneity, with each family having its own pathogenic genes. This is the first article to provide a chromosomal landscape map of susceptibility genes associated with non-syndromic FNMTC and analyze their potential associations. It also presents a detailed summary of variant loci, characteristics, research methodologies, and validation results from different countries.

Does a Common Genetic Event Exist for Familial Thyroid Cancer? Results from a Large Family with fnmtc

Does a Common Genetic Event Exist for Familial Thyroid Cancer? Results from a Large Family with fnmtc

The frequency of risk pathological characteristics in clinically low-risk papillary thyroid microcarcinoma suitable for active surveillance.

Active surveillance has emerged as an initial management strategy for patients with low-risk papillary thyroid microcarcinoma (PTMC). The main objective of this research was to investigate the frequency of risk pathological characteristics among patients with clinically low-risk PTMC who are suitable for Active Surveillance. A retrospective review was conducted on patients who underwent lobectomy for PTMC between January 2013 and December 2018. Patients with bilateral tumors, macroscopic multifocal tumors, macroscopic extrathyroidal extension (ETE), clinical lymph node metastases, macroscopic extranodal extension (ENE), distant metastases, a history of neck radiation or familial thyroid cancer were excluded. Pathological characteristics were collected from the postoperative pathological results. Aggressive variants, multifocality, ETE, lymphovascular invasion (LVI), perineural invasion (PNI), metastatic lymph nodes (LNs) ≥ 5, and ENE were defined as risk characteristics. The study included 4923 patients, of whom 1229 (25.0%) were male. The mean age was 43years. A total of 2250 patients (45.7%) exhibited risk characteristics. Among them, 15 patients presented with aggressive variants, and 1813 patients (36.8%) had ETE. Multifocality, LVI, and PNI were observed in 551 (11.2%), 21 (0.4%), and 40 (0.8%) patients, respectively. A total of 139 patients (2.8%) had five or more metastatic LNs, and ENE was identified in 140 patients. Notably, 172 patients (3.5%) fulfilled the criteria for completion thyroidectomy, as they had aggressive variants, LVI, or five or more metastatic LNs. Nearly half of the patients diagnosed with clinically low-risk PTMC exhibited risk pathological characteristics, and a small proportion of patients met the criteria for completion thyroidectomy.

Family clinical case of thyroid cancer in the Republic of Dagestan

A case of familial thyroid cancer in the Republic of Dagestan is presented. Papillary thyroid cancer was diagnosed in a sister and a brother at a young age. The disease was characterized by small size of nodes in the thyroid gland, a multi-focal lesion and the presence of metastases in the regional lymph nodes.

SAT512 Familial Thyroid Cancer With Negative Pre-operative Genetic Screening

Abstract Disclosure: A. Yuen: None. R. Owen: None. S.R. Saul: None. Today it is estimated that the etiology of approximately 90% of thyroid cancer cases are understood, compared to only 25% in the 1990s. However, despite the encouraging progress with oncogenetic screening panels, thyroid cancer-specific testing are not always included. We present a family with 3 generations of thyroid cancer with negative genetic screening ultimately found to have BRAF mutation post-operatively. A 62-year-old woman of Brazilian descent with a medical history of papillary thyroid cancer (PTC) status-post total thyroidectomy presented to clinic. The patient’s PTC was diagnosed 10 years prior when she presented with dysphagia and vocal changes. A thyroid ultrasound revealed a right-sided 2.3 cm solid mass and a fine needle aspiration confirmed PTC. The patient underwent a total thyroidectomy with pathology verifying a PTC with lymphovascular invasion and minimal local extrathyroidal extension as well as a 0.4 cm microcarcinoma in the left lobe. Post-operatively, she received 100 millicurie of radioactive iodine and was started on levothyroxine. Interestingly, the patient reported as strong family history of varying cancers, notably colon, breast, uterine, and thyroid. Her mother was diagnosed at 55-years-old with thyroid cancer that metastasized to her lungs and her daughter was found to have PTC at age 31-years-old. Additionally, the daughter has two teenage sons, both with multiple thyroid nodules who are currently being followed by a pediatric endocrinologist. Given this history, the patient and her daughter both completed genetic testing which was negative for the 42 known mutations associated with an increased risk of cancer, though they both were heterozygous for a mutation of uncertain clinical significance in the MSH2 gene, specifically the c.959C>G (pT320S). Although the standard genetic panel was negative, due to concern for a hereditary mutation, the patient’s thyroidectomy specimen was sent for analysis and confirmed a BRAF mutation. Subsequently, the patient’s daughter also underwent completion thyroidectomy and was found to have the BRAF mutation. This family demonstrated likely hereditary BRAF-associated PTC across 3 generations with children in the fourth generation having known thyroid nodules, generally rare in youth. Although the patient and her daughter were both tested for genetic mutations linked to cancers, neither were positive and it was only after undergoing surgery that they were found to have the BRAF mutation. Although BRAF mutations account for 45% of PTC and are the most commonly associated mutation, they are not commonly included in pre-operative screening or the standard oncogenetic screening panel. Developing a thyroid cancer specific mutation panel to screen family members of patients with thyroid cancer will be an important step in determining these individuals’ best management. Presentation Date: Saturday, June 17, 2023

Clinical relevance and outcome of familial papillary thyroid cancer: a single institution study of 626 familial cases.

Whether familial thyroid cancer is more aggressive than sporadic thyroid cancer remains controversial. Additionally, whether the number of affected family members affects the prognosis is unknown. This study focused mainly on the comparison of the clinicopathological characteristics and prognoses between papillary thyroid cancer (PTC) patients with and without family history. A total of 626 familial papillary thyroid cancer (FPTC) and 1252 sporadic papillary thyroid cancer (SPTC) patients were included in our study. The clinical information associated with FPTC and SPTC was recorded and analyzed by univariate analysis. Patients in the FPTC group had a higher rate of multifocality (p=0.001), bilaterality (p=0.000), extrathyroidal invasion (p=0.000), distant metastasis (p=0.012), lymph node metastasis (p=0.000), recurrence (p=0.000), a larger tumor size (p=0.000) and more malignant lymph nodes involved (central: p=0.000; lateral: p=0.000). In addition, our subgroup analysis showed no significant difference (p>0.05) between patients with only one affected family member and those with two of more group in all clinicopathological characteristics. In papillary thyroid microcarcinoma (PTMC) subgroup analysis, we found that FPTMC patients harbored significantly larger tumors (p=0.000), higher rates of multifocality (p=0.014), bilaterality (p=0.000), distant metastasis (p=0.038), lymph node metastasis (p=0.003), greater numbers of malignant lymph nodes (central: p=0.002; lateral: p=0.044), higher rates of I-131 treatment (p=0.000) and recurrence (p=0.000) than SPTMC patients. Our results indicated that PTC and PTMC patients with a positive family history had more aggressive clinicopathological behaviors, suggesting that more vigilant screening and management for FPTC may be helpful.

Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing.

Thyroid carcinoma (TC) can be classified as medullary (MTC) and non-medullary (NMTC). While most TCs are sporadic, familial forms of MTC and NMTC also exist (less than 1% and 3-9% of all TC cases, respectively). Germline mutations in RET are found in more than 95% of familial MTC, whereas familial NMTC shows a high degree of genetic heterogeneity. Herein, we aimed to identify susceptibility genes for familial NMTC and non-RET MTC by whole exome sequencing in 58 individuals belonging to 18 Spanish families with these carcinomas. After data analysis, 53 rare candidate segregating variants were identified in 12 of the families, 7 of them located in previously TC-associated genes. Although no common mutated genes were detected, biological processes regulating functions such as cell proliferation, differentiation, survival and adhesion were enriched. The reported functions of the identified genes together with pathogenicity and structural predictions, reinforced the candidacy of 36 of them, suggesting new loci related to TC and novel genotype-phenotype correlations. Therefore, our strategy provides clues to possible molecular mechanisms underlying familial forms of MTC and NMTC. These new molecular findings and clinical data of patients may be helpful for the early detection, development of tailored therapies and optimizing patient management.

Cathepsin F genetic mutation is associated with familial papillary thyroid cancer

BackgroundThyroid cancer is one of the most common cancers in the world. Genetic factors are important in the occurrence and development of thyroid cancer, and genetic diagnosis has become an important basis for the prognosis of benign and malignant nodules. We identify a family of six siblings with inherited thyroid cancer susceptibility. All six members of this generation have been definitely diagnosed with papillary thyroid carcinoma. This work aims at confirming the relevant causative genes for thyroid cancer in this pedigree. MethodsWe extract DNA from the peripheral blood of six individuals and perform whole genome sequencing. Sanger sequencing and immunohistochemistry further testify the cathepsin F (CTSF) mutation and expression. ResultsWe identify 57 single nucleotide variations (SNVs) out of at least 4 affected family members via certain filter criteria. The CTSF gene found in five of the six family members is here considered the most promising candidate gene mutation for familial thyroid cancer. Besides, our research also proves several known genes including CTSB, TEKT4, ESR1, MSH6, DIRC3, GNAS, and BANCR that act as probable oncogenic drivers in this family. The Sanger sequencing identifies the existence and veracity of CTSF somatic mutations. The CTSF immunohistochemistry of thyroid cancer tissue specimens displays that higher CTSF expression in mutated patients than that in wild-type patient as well as pericarcinomatous tissue. ConclusionsWe conclude that the evaluation of CTSF gene mutations of patients in thyroid cancer families may be predictive and valuable for the familial heredity of thyroid cancer.

Deleterious Mutations in the TPO Gene Associated with Familial Thyroid Follicular Cell Carcinoma in Dutch German Longhaired Pointers.

Familial thyroid cancer originating from follicular cells accounts for 5–15% of all the thyroid carcinoma cases in humans. Previously, we described thyroid follicular cell carcinomas in a large number of the Dutch German longhaired pointers (GLPs) with a likely autosomal recessive inheritance pattern. Here, we investigated the genetic causes of the disease using a combined approach of genome-wide association study and runs of homozygosity (ROH) analysis based on 170k SNP array genotype data and whole-genome sequences. A region 0–5 Mb on chromosome 17 was identified to be associated with the disease. Whole-genome sequencing revealed many mutations fitting the recessive inheritance pattern in this region including two deleterious mutations in the TPO gene, chr17:800788G>A (686F>V) and chr17:805276C>T (845T>M). These two SNP were subsequently genotyped in 186 GLPs (59 affected and 127 unaffected) and confirmed to be highly associated with the disease. The recessive genotypes had higher relative risks of 16.94 and 16.64 compared to homozygous genotypes for the reference alleles, respectively. This study provides novel insight into the genetic causes leading to the familial thyroid follicular cell carcinoma, and we were able to develop a genetic test to screen susceptible dogs.

Korean Society of Thyroid Radiology Guidelines for the Management of Pediatric Thyroid Nodules: Suitability and Risk Factors.

Background: The guideline for managing pediatric thyroid nodules has not been established. We investigated the appropriateness of the Korean Society of Thyroid Radiology (KSThR) guidelines and the need to consider risk factors for managing pediatric thyroid nodules. Methods: From August 2007 to February 2020, a database of thyroid nodules in patients younger than 19 years who underwent fine-needle aspiration (FNA) was analyzed. Two radiologists retrospectively reviewed ultrasound images to characterize the nodules according to the Korean Thyroid Imaging Reporting and Data System (K-TIRADS) criteria. Thyroid nodules were divided into benign and malignant nodules. Clinical risk factors were identified, including familial thyroid cancer, history of radiation therapy, and underlying thyroiditis. According to the K-TIRADS categories and the presence of risk factors, malignancy rates were calculated. We compared the diagnostic performance of the original KSThR guidelines and newly suggested criteria for FNA derived by simulation tests with variable size cutoffs in the total study population, a group with risk factors, and a group without risk factors. Results: A total of 107 patients (mean age, 13.9 years; range, 4-18 years; 83 females; 50 patients with risk factors) with 133 nodules (71 benign and 62 malignant) were included. The malignancy rate of thyroid nodules was higher in the group with risk factors (64.0%) than in the group without risk factors (43.9%; p = 0.037). Compared with the KSThR guideline (≥1.0 cm for K-TIRADS 4 and 5), the accuracy was higher (62.4% vs. 56.4%) and the unnecessary biopsy rate was lower (44.0% vs. 47.4%) when the new criteria (≥0.6 cm for K-TIRADS 4 and ≥0.5 cm for K-TIRADS 5) were used in the total study population. In particular, in the group with risk factors, the newly suggested size criteria had a much higher accuracy (73.1% vs. 59.7%) and lower unnecessary biopsy rate (30.4% vs. 35.5%) than the KSThR guideline. Conclusions: For the management of thyroid nodules in children, it is necessary to consider risk factors and adjust the criteria values for FNA. FNA should be considered in children with risk factors for thyroid cancer even if thyroid nodules are small.

The advantage of near-total thyroidectomy to avoid postoperative hypoparathyroidism in benign multinodular goiter

Introduction: In recent years, total or near-total thyroidectomy has emerged as a surgical option to treat patients with multinodular goiter, especially in endemic iodine-deficient regions. The aim of this study was to compare the complication rates of total and near-total thyroidectomy in multinodular goiter and the incidence of thyroid cancer requiring radioactive iodine ablation and completion thyroidectomy between groups. Study Design: Patients with euthyroid multinodular goiter without any preoperative suspicion of malignancy, history of familial thyroid cancer, or previous exposure to radiation were randomized (according to a random table) to total thyroidectomy group 1, and near-total thyroidectomy leaving less than 2 gm. Study period was between November 2018 to October 2019 at SSIMS, T. BEGUR.

Prédispositions héréditaires aux tumeurs thyroïdiennes de souche folliculaire

Familial thyroid cancers of follicular origin are rare and include syndromic and non-syndromic tumours. In familial adenomatous polyposis, the prevalence of papillary thyroid cancer is 2-12% and in 20-40% of cases it is a cribriform-morular papillary thyroid carcinoma. Morules and cribriform pattern are the two main typical criteria, associated with a nuclear and cytoplasmic immunopositivity for beta catenin. DICER1 syndrome is associated with pleuropneumoblastoma, ovarian tumors and thyroid pathology (multinodular goiter and less frequently a well-differentiated thyroid cancer without microscopic particularity). Cowden syndrome is characterized by multiple hamartomas and two-thirds of patients develop thyroid pathology, including multinodular goiter (50-67%) and cancer (35%), the latter being one of the major diagnostic criteria of the syndrome. Classic triad of Carney complex associates lentiginosis, myxoid tumors, and various endocrine abnormalities; thyroid pathology occurs in 10% of cases and may be benign or malignant. In Werner's syndrome, thyroid cancer is present in 18% of cases. McCune-Albright syndrome is characterized by fibrous dysplasia, café-au-lait spots and various endocrinopathies including hyperthyroidism and nodular hyperplasia. Non-syndromic thyroid cancers, which represent the majority of familial cancers, are most often papillary carcinomas. In daily practice, in the presence of multiple benign thyroid nodules and/or thyroid cancer in a young person, or with family thyroid diseases, the pathologist should be aware about hereditary predispositions to propose an oncogenetic consultation.

The American Association of Endocrine Surgeons Guidelines for the Definitive Surgical Management of Thyroid Disease in Adults.

To develop evidence-based recommendations for safe, effective, and appropriate thyroidectomy. Surgical management of thyroid disease has evolved considerably over several decades leading to variability in rendered care. Over 100,000 thyroid operations are performed annually in the US. The medical literature from 1/1/1985 to 11/9/2018 was reviewed by a panel of 19 experts in thyroid disorders representing multiple disciplines. The authors used the best available evidence to construct surgical management recommendations. Levels of evidence were determined using the American College of Physicians grading system, and management recommendations were discussed to consensus. Members of the American Association of Endocrine Surgeons reviewed and commented on preliminary drafts of the content. These clinical guidelines analyze the indications for thyroidectomy as well as its definitions, technique, morbidity, and outcomes. Specific topics include Pathogenesis and Epidemiology, Initial Evaluation, Imaging, Fine Needle Aspiration Biopsy Diagnosis, Molecular Testing, Indications, Extent and Outcomes of Surgery, Preoperative Care, Initial Thyroidectomy, Perioperative Tissue Diagnosis, Nodal Dissection, Concurrent Parathyroidectomy, Hyperthyroid Conditions, Goiter, Adjuncts and Approaches to Thyroidectomy, Laryngology, Familial Thyroid Cancer, Postoperative Care and Complications, Cancer Management, and Reoperation. Evidence-based guidelines were created to assist clinicians in the optimal surgical management of thyroid disease.

Executive Summary of the American Association of Endocrine Surgeons Guidelines for the Definitive Surgical Management of Thyroid Disease in Adults.

The aim of this study was to develop evidence-based recommendations for safe, effective and appropriate thyroidectomy. Surgical management of thyroid disease has evolved considerably over several decades leading to variability in rendered care. Over 100,000 thyroid operations are performed annually in the United States. The medical literature from January 1, 1985 to November 9, 2018 was reviewed by a panel of 19 experts in thyroid disorders representing multiple disciplines. The authors used the best available evidence to construct surgical management recommendations. Levels of evidence were determined using the American College of Physicians grading system, and management recommendations were discussed to consensus. Members of the American Association of Endocrine Surgeons reviewed and commented on preliminary drafts of the content. These clinical guidelines analyze the indications for thyroidectomy as well as its definitions, technique, morbidity, and outcomes. Specific topics include Pathogenesis and Epidemiology, Initial Evaluation, Imaging, Fine Needle Aspiration Biopsy Diagnosis, Molecular Testing, Indications, Extent and Outcomes of Surgery, Preoperative Care, Initial Thyroidectomy, Perioperative Tissue Diagnosis, Nodal Dissection, Concurrent Parathyroidectomy, Hyperthyroid Conditions, Goiter, Adjuncts and Approaches Laryngology Familial Thyroid Cancer, Postoperative Care and Complications, Cancer Management, and Reoperation. Evidence-based guidelines were created to assist clinicians in the optimal surgical management of thyroid disease.

Hereditary and familial thyroid tumours.

The worldwide incidence of thyroid malignancies has been increasing rapidly. Sensitive imaging modalities and early detection of thyroid lesions have made thyroid cancers the most rapidly increasing cancers in the USA in 2017 (SEER Cancer Facts, 2017). Clinical awareness of potential risk factors, such as inherited thyroid cancers, has allowed earlier recognition of more vulnerable population clusters. Hereditary thyroid neoplasms arising from calcitonin-producing C cells are known as familial medullary thyroid carcinomas (FMTCs), and include well-documented syndromes such as multiple endocrine neoplasia IIA or IIB, and pure familial medullary thyroid carcinoma syndrome. Familial thyroid cancers arising from follicular cells are referred to as familial non-medullary thyroid carcinoma (FNMTC), or familial follicular cell-derived carcinoma. Clinicopathological correlations have resulted in the further subclassification of FNMTCs into two groups. Among the first group are found syndromes characterised by a predominance of non-thyroidal tumours, including familial adenomatous polyposis, Cowden syndrome, Werner syndrome, Carney complex, and Pendred syndrome. The second group encompasses a spectrum of familial syndromes characterised by a predominance of non-medullary thyroid tumours, such as pure familial papillary thyroid carcinoma with or without oxyphilia, familial papillary thyroid carcinoma with papillary renal cell carcinoma, and familial papillary carcinoma with multinodular goitre. Most familial thyroid cancers have been described as being more aggressive than sporadic thyroid cancers, with a predisposition for lymph node metastasis, extrathyroidal invasion, and a younger age of onset. The distinct thyroid pathology in some of these syndromes should alert the pathologist to a possible familial cancer syndrome.

Cancer Frequency in Retrosternal Goiter

Retrosternal goiter prevalence is 5 to 40 per cent according to classifications in goiter series. Goiters with mediastinal extension were reported to be related with higher cancer rates. In our study, we aimed to investigate whether cancer incidence increased in retrosternal goiters compared with the cervical ones. Three hundred and ninety consecutive patients, who had surgery because of retrosternal goiter in Istanbul University Medical Faculty Department of General Surgery between 2005 and 2015 were included in the study (Group 1). Control group included 880 patients who had surgery because of nontoxic multinodular goiter in the same period (Group 2). Preoperative ultrasonography (USG) was performed to each patient. Fine-needle aspiration biopsy was performed in suspicious nodules and results were recorded. Carcinomas in histopathological examination were classified as intrathorasic and extrathorasic. Diagnostic rates of USG results were compared with histopathologic cancer results. Papillary carcinoma was diagnosed in 76 patients with retrosternal goiter (19%) and in 200 patients in the control group (22%). No statistically significant difference was detected between groups regarding the tumor rates (P > 0.05). One hundred and forty-four tumoral foci were detected in 76 patients with papillary carcinoma in retrosternal goiter patients. Three hundred and seventy tumoral foci were detected in 200 patients with papillary carcinoma in the control group. In the retrosternal goiter group, 104 carcinoma lesions of 144 papillary carcinomas were intrathorasic (72%). No statistically significant difference was detected between intrathorasic (2.1 ± 1 cm) and extrathorasic regiones (1.9 ± 0.8 cm) regarding the tumor size P > 0.05. When patients with and without cancer in the retrosternal goiter group were compared regarding familial thyroid cancer history, radiation to the neck, and cervical adenopathy, no statistically significant difference was detected. Cancer incidence of retrosternal goiters was not higher than that of the cervical ones. Yet, cancer foci of retrosternal goiters were commonly located in the intrathorasic area and were not detected with USG. Depending on these findings, we suggest that all retrosternal goiters should be surgically treated.

Prophylactic thyroidectomies in MEN2 syndrome: Management and outcomes

Aim of the studyThe aim of the study was to evaluate the outcomes of prophylactic thyroidectomies performed in an academic setting in the context of multiple endocrine neoplasia type 2 (MEN2) syndrome. MethodsA chart review of patients <18years old who underwent prophylactic thyroidectomy for a MEN2 syndrome at a children's hospital between 2006 and 2015 was performed. Main resultsThe study included 21 patients (57% female) with a mean age of 6.2±2.5years. All patients were asymptomatic at first evaluation. Nineteen had MEN2A syndrome with RET proto-oncogene mutations identified. The remaining two were RET-negative with familial medullary thyroid cancer (FMTC). One patient had a concomitant Hirschsprung disease. Of the 11 patients who had RET proto-oncogene mutations ranked as Moderate Risk for medullary thyroid cancer (MTC) (American Thyroid Association), one had a microcarcinoma on the resected specimen, and the others had C-Cell Hyperplasia. Among the 8 patients who had RET proto-oncogene mutations ranked as High Risk level for MTC, all had microcarcinoma. Of the nine patients with microcarcinoma, three underwent surgery after 5years of age. No microcarcinoma exceeded 6mm. There were no permanent complications. Six patients experienced transient hypocalcemia, of which only one was symptomatic. No patients had lymph node involvement, and no recurrence was noted during the follow-up period. ConclusionsOf 21 children with familial thyroid cancer syndrome who underwent a prophylactic thyroidectomy, nine had microcarcinoma. This study highlights the need for a complete familial history, including FMTC history and mandatory preventive surgical approach. Level of evidenceIII

Current situation and thinking of diagnosis and treatment in some types of thyroid cancer

As arising incidence of thyroid cancer, the treatment for thyroid carcinoma is becoming increasingly standardized. But there are different opinions on the treatment for some types of thyroid cancers, including the determination of operative opportunity, surgical method, and follow-up observation plan. There are mainly two categories of patients, namely the patients diagnosed as familial thyroid cancer mutation carriers through family screening, including medullary thyroid carcinoma and familial nonmedullary thyroid carcinoma, and the patients with thyroid microcarcinoma that can be observed after diagnosed by fine needle biopsy cytology. We will discuss current situation for the diagnosis and treatment of these patients.

Should the Prevalence of Incidental Thyroid Cancer Determine the Extent of Surgery in Multinodular Goiter?

BackgroundThe most appropriate surgical procedure for multinodular goiter (MNG) remains under debate. Incidental thyroid carcinoma (ITC) is often identified on histopathological examination after thyroidectomy performed for presumed benign MNG.Aim of the studyThe aim of the study was to determine the value of radical surgery for MNG patients considering the prevalence of ITC diagnosed postoperatively.Materials and MethodsWe conducted retrospective analysis of the medical records of 2,306 patients surgically treated for MNG between 2008 and 2013 at one center. None of the patients presented with any suspicion of malignancy, history of familial thyroid cancer, multiple endocrine neoplasia syndrome or previous head or neck radiation exposure.ResultsAmong the 2,306 MNG patients, ITC was detected in 49 (2.12%) (44 women and 5 men, with average ages of 52.2 (21–79) and 55.6 (52–62), respectively). Papillary thyroid carcinoma was significantly more frequently observed than other types of ITC (p<0.00001). Among the MNG patients, 866 (37.5%) underwent total/near total surgery, 464 (20.1%) received subtotal thyroidectomy, and 701 (30.3%) received the Dunhill operation. The remaining 275 (11.9%) patients underwent a less radical procedure and were classified as "others." Among the 49 (100%) patients with ITC, 28 (57.1%) underwent radical surgery. Another 21 (42.9%) patients required completion surgery due to an insufficient primary surgical procedure. A total of 21 (2.42%) patients in the total/near total surgery group were diagnosed with ITC, as well as 16 (2.48%) in the subtotal thyroidectomy group and 12 (1.71%) in the Dunhill operation group; 21 (100%), 4 (25%) and 3 (25%) of these patients, respectively, underwent radical surgery; thus, 0 (0%), 12 (75%) and 9 (75%) required completion surgery. The prevalence rates of ITC were comparable between the radical and subtotal surgery groups (2.42% and 3.44%, respectively, p = 0.4046), and the prevalence was higher in the radical surgery group than in the Dunhill operation group (2.42% and 1.71%, respectively, p = 0.0873). A significant difference was observed between the group of patients who underwent total/near total surgery, among whom all of the patients with ITC (100%) received primary radical surgery, and the groups of patients who received the subtotal and Dunhill operations, among whom only 25% of the patients with ITC in each group received primary radical surgery (p<0.0001).ConclusionsMore radical procedures for MNG result in a lower risk of reoperation for ITC. The prevalence of ITC on postoperative histopathological examination should determine the extent of surgery in MNG patients. In the future, total/near total thyroidectomy should be considered for MNG patients due to the increased prevalence of ITC to avoid the necessity for reoperation.

Identifying hereditary thyroid cancer in Ireland.

e13010Background: Thyroid cancer is a heritable malignancy but an uncommon reason for referral to cancer genetics services. Predisposition to thyroid cancer remains poorly understood but mutations in RET, PTEN and HABP2 are associated with an increased risk of developing thyroid cancer. We investigated the rate of referral of familial and early onset thyroid cancer for cancer genetics opinion and the diagnostic yield of genetic testing. Methods: 1,840 family pedigrees collected by the cancer genetics service in St. James’s Hospital, Dublin between 1996 and 2015 were reviewed and each pedigree that contained a diagnosis of thyroid cancer was identified. Diagnoses of thyroid cancer were ascertained from the head and neck cancer data at St. James’s Hospital between 2011 and 2014 and from the National Cancer Registry between 1994 and 2012. Information on genetic tests ordered and the test results were extracted from the medical records. Results: Thyroid cancer cases increased annually between 1998 and 2012 in...