Thyroglossal duct cyst cancer most likely arises from a thyroid gland remnant.
Thyroglossal duct cancer is a rare entity, occurring in 1.5 % of all thyroglossal duct cysts (TDC). A definitive consensus about its neoplastic origin has not been established as two contrasting theories exist, one proposing an origin in extra-thyroid remnants and the other a metastatic localization of a primary thyroid cancer. We compare morphological and molecular characteristics of both thyroglossal and thyroid carcinomas in a case series from our institute. We evaluated histology of 80 TDC. In 12 cases, prior cytological evaluation had been performed by liquid-based cytology (LBC). The BRAF gene was examined for mutations, and the histology of both thyroglossal duct and synchronous thyroid carcinoma was reevaluated. In 9 out of 80 (11 %) TDC cases, a papillary thyroid cancer (PTC) was diagnosed. In five out of nine (56 %) thyroglossal carcinomas, a synchronous thyroid cancer was diagnosed: 3 PTC and 2 follicular variant PTC (FVPC). In five thyroglossal carcinomas, mutated BRAF (V600E) was found, three in PTC and in thyroglossal as well as in the synchronous tumor in the thyroid. All the patients are in a disease-free status and still alive. Our results suggest that the majority of thyroglossal carcinomas most likely develop as a primary malignancy from a thyroid remnant. Neither the presence of V600E BRAF mutations nor that of a well-differentiated thyroid carcinoma changed the outcome or disease-free survival. We suggest that a diagnosis of thyroglossal carcinoma should be followed by a detailed evaluation of the thyroid gland. In the absence of clinical and radiological thyroid alterations, follow-up as for thyroid cancer is the correct management.
Division of Anatomic Pathology and Histology, Università Cattolica del Sacro Cuore, "Agostino Gemelli" School of Medicine, Largo Francesco Vito, 1-00168, Rome, Italy, esther.rossi@rm.unicatt.it.
Esther D
ED
Rossi
Maurizio
M
Martini
Patrizia
P
Straccia
Alessandra
A
Cocomazzi
Ilaria
I
Pennacchia
Luca
L
Revelli
Armando
A
Rossi
Celestino Pio
CP
Lombardi
Luigi M
LM
Larocca
Guido
G
Fadda
D018263:Adenocarcinoma, Follicular / Q000150:complications; D000293:Adolescent; D000328:Adult; D000368:Aged; D044963:Biopsy, Fine-Needle; D002277:Carcinoma / Q000150:complications; D002291:Carcinoma, Papillary; D018572:Disease-Free Survival; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics; D013955:Thyroglossal Cyst / Q000150:complications* / Q000473:pathology; D000077273:Thyroid Cancer, Papillary; D013961:Thyroid Gland / Q000002:abnormalities*; D013964:Thyroid Neoplasms / Q000150:complications* / Q000473:pathology / Q000601:surgery
C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf