BRAFV600E mutation: a potential predictor of more than a Sistrunk's procedure in patients with thyroglossal duct cyst carcinoma and a normal thyroid gland.

To assess the utility of mutational markers in determining the most appropriate initial surgery for patients with thyroglossal duct cyst carcinoma (TGDCCa) and a normal thyroid gland. Our sample comprised 15 patients with a diagnosis of TGDCCa and a thyroid gland histologically negative for any malignant involvement, who underwent surgery between the years 1994 and 2017. Clinical records were reviewed and tissue specimens were genetically tested for the presence of the most commonly encountered mutational markers in differentiated thyroid cancer: BRAF, N-RAS, and H-RAS. The primary outcome of interest was the correlation between mutational marker positivity and the T-stage of the primary tumor and its potential implication on therapeutic decision making. All 15 cases were papillary carcinomas with a mean tumor size of 17 mm (2-40 mm). According to the 7th edition of the American Joint Committee on Cancer TNM staging system, these represented: T1 (n = 3), T2 (n = 1), and T3 (n = 11). Cancerous invasion of the pericystic soft tissue and/or hyoid bone was considered T3. BRAFV600E was the only mutational marker identified (7 in 15 cases). All BRAFV600E-positive lesions were T3, necessitating radioactive iodine ablation (RIA) therapy, therefore, total thyroidectomy. The correlation between BRAFV600E positivity and extracystic cancerous extension was statistically significant [1.0 (7/7) vs. 0.5 (4/8); p value = 0.0035]. BRAFV600E positivity seems to be predictive of locally advanced disease mandating RIA therapy. Therefore, it could serve as a preoperative tool that predicts the need for total thyroidectomy, in addition to Sistrunk's procedure.

Thyroid cancer in lingual thyroid and thyroglossal duct cyst / Cáncer de tiroides en tiroides lingual y quiste del conducto tirogloso

Ectopy is the most common embryogenetic defect of the thyroid gland, representing between 48 and 61% of all thyroid dysgeneses. Persistence of thyroid tissue in the context of a thyroglossal duct remnant and lingual thyroid tissue are the most common defects. Although most cases of ectopic thyroid are asymptomatic, any disease affecting the thyroid may potentially involve the ectopic tissue, including malignancies. The prevalence of differentiated thyroid carcinoma in lingual thyroid and thyroglossal duct cyst is around 1% of patients affected with the above thyroid ectopies. We here review the current literature concerning primary thyroid carcinomas originating from thyroid tissue on thyroglossal duct cysts and lingual thyroid (AU)

La ectopia es el defecto embriogenético más frecuente de la glándula tiroides, responsable de entre el 48 y el 61% de todas las disgenesias tiroideas. La persistencia de tejido tiroideo en el contexto de un resto de conducto tirogloso y el tejido tiroideo lingual son los defectos más comunes. Aunque la mayoría de los casos de tiroides ectópico son asintomáticos, cualquier proceso que afecte al tiroides puede afectar potencialmente al tejido ectópico, incluidos los tumores malignos. La prevalencia de carcinoma tiroideo diferenciado en tiroides lingual y quiste del conducto tirogloso es de alrededor del 1% en los pacientes con las ectopias tiroideas antes citadas. Revisamos aquí la bibliografía actual sobre los carcinomas tiroideos primarios originados a partir de tejido tiroideo de quistes del conducto tirogloso y tiroides lingual (AU)

Branchio-oculo-facial syndrome presenting with concomitant thyroglossal duct cyst.

Branchial cleft anomalies are rare developmental defects of the neck, with an estimated 2% to 3% being bilateral. Although most are isolated findings, some are associated with syndromes. We report a 2-month-old boy with bilateral branchial cleft anomalies, low-set ears, and hydronephrosis who tested positive for a mutation in the TFAP2A gene (A256V) implicated in branchio-oculo-facial (BOF) syndrome. Magnetic resonance imaging (MRI) revealed a thyroglossal duct cyst at the base of the tongue. To our knowledge, this is the first reported case of BOF syndrome presenting concomitantly with a thyroglossal duct cyst.

[A hereditary case of thyroglossal duct cyst]. / Forme familiale de kyste du tractus thyréoglosse.

OBJECTIVES: The thyroglossal duct cyst (TDC) is a frequent pathology in head and neck surgery whose diagnosis and treatment are well known. Hereditary forms are very rare. In a case report, the author describes the familial cases in the international literature and discusses the genetic inheritance patterns. MATERIAL AND METHOD: The author reports the clinical case of a 7-year-old girl, operated on for a TDC, with a familial history of this disease. After a review of the international literature in PubMed, the features of the reported families are described and the genetic inheritance theories are discussed. RESULTS: This is the first report of a French familial form of TDC. Described in four members of the same family over three generations, the genetic transmission seems to follow the rules of autosomic dominant inheritance. The female preponderance suggests a genetic imprinting theory. CONCLUSION: The genetic inheritance patterns of familial TDC are unclear. The dominant autosomic transmission with incomplete penetrance might be the most likely. Another theory of genetic imprinting might explain the female preponderance, but this theory remains complex and highly debated. However, the search for a familial history of TDC must be part of the initial consultation, a procedure that is not widely known among ENT surgeons.

Hereditary thyroglossal duct cysts.

Thyroglossal duct cysts are one of the most commonly encountered benign neck lumps found in the paediatric population. Despite their relative frequency, reports of familial inheritance are rare. A total of 21 patients with hereditary thyroglossal duct cysts from seven families worldwide have been reported. The most common inheritance pattern is dominant, with a minority possibly representing a recessive aetiology. We describe a further instance of dominantly inherited thyroglossal duct cysts in two generations.

Hereditary thyroglossal duct cysts.

OBJECTIVE: To examine the epidemiological and clinical characteristics of hereditary thyroglossal duct cysts (TGDCs). DATA SOURCES: A complete English-language literature review, assisted by MEDLINE and BIOSIS, of hereditary cases of TGDC was performed between 1975 and 1996. Three new cases from our institution were included in the study. STUDY POPULATION: Patients with a diagnosis of hereditary TGDC. DATA EXTRACTION: All case reports were reviewed by multiple observers to confirm the diagnosis of hereditary TGDC. DATA SYNTHESIS: A review of the literature revealed that a hereditary pattern has been described in 18 patients from 6 families; 11 of the 18 cases were reported in the United States. We report 3 new cases of TGDC herein, bringing the total of US cases to 14. In all 14 US cases, the patients were female presented at a mean age of 6.1 years, and had a predominantly autosomal dominant inheritance pattern. These findings are in sharp contrast to those in international cases (n = 7), in which only 29% of the patients were female and the mean age at presentation was much older (16.2 years). An autosomal dominant pattern of inheritance was found in 2 of 3 foreign families. Interestingly, the patients with an autosomal dominant pattern of inheritance were older than those with an autosomal recessive pattern (13.9 years vs 6.2 years, respectively). CONCLUSIONS: Cases of hereditary TGDC are female predominant and usually have an autosomal dominant pattern of inheritance. The sexual bias may be explained by genetic imprinting. Although no racial differences were noted in our study, distinct variations in presentation based on nationality were present. The recurrence rate after a Sistrunk procedure is similar to that in nonhereditary cases.

Familial thyroglossal duct cyst.

Thyroglossal duct cysts are common congenital abnormalities or developmental field defects, usually detected in early childhood. Despite their frequent occurrence, familial patterns are rare. We report on two new families with thyroglossal duct cysts. In the first family three siblings were involved, while in the second one, father and son were affected. This trait may be autosomal recessive or possibly multifactorial, as the first family would indicate, and also autosomal dominant, as the second family would suggest.

Familial occurrence of thyroglossal duct cyst.

Persistence and dilation of the embryologic thyroglossal tract gives rise to the condition of thyroglossal duct cyst. Although these cysts have an embryologic origin, there is rarely a history of inheritance. A search of the literature shows only two family reports, which includes a total of nine patients. We report on a third family with thyroglossal duct cyst in two members. The patients were female siblings aged 2 and 6 years, both of whom underwent successful surgical excision of their thyroglossal duct cysts by modified Sistrunk's technique.

Pre-Gardner's syndrome, thyroglossal cysts and undifferentiated tumor of neural crest origin.

A child with a malignant undifferentiated adrenal medullary tumor of neural crest origin, removed at six months of age, was treated with chemotherapy and is alive without evidence of cancer after seven years. He developed osteomas of the skull, a thyroglossal cyst and has had one episode of gastrointestinal bleeding. A three-generation history of multiple colonic polyposis and colon cancer, osteomas, recurrent pancreatitis, and Wilms' tumor was elicited. One of three females in this family, with direct lineage from polyposis afflicted fathers, exhibited Gardner's Syndrome and Wilms' tumor. The constellation of tumors afflicting this family may represent an underlying defect of excessive cell proliferation affecting mesenchymal and neuroblastic tissue. These may be extracolonic conditions associated with Gardner's Syndrome.