Histopathology of telomerase reverse transcriptase promoter (TERT) mutated indeterminate thyroid nodules.

Objective: The objective of this study was to analyze the risk of malignancy and the histopathology of telomerase reverse transcriptase promoter (TERT) mutated cytologically indeterminate thyroid nodules (ITN). Methods: A PUBMED search of molecularly tested ITN was conducted and data on TERT mutated ITN with histopathology correlation were extracted. Results: Twenty-six manuscripts (published between 2014 and 2022) reported on 77 TERT mutated ITN. Sixty-five nodules were malignant (84 %), with 16 (25 %) described with high-risk histopathology, 5 (8 %) described as low-risk, and most without any description. Isolated TERT mutations were malignant in 26/30 ITNs (87 %) with 9 (35 %) described as high risk and none described as low risk. TERT + RAS mutated ITNs were malignant in 29/34 ITNs (85 %) with 3 (10 %) described as high risk and 4 (14 %) described as low risk. Finally, all 5 TERT + BRAFV600E mutated nodules were malignant and 3/5 (60 %) were described as high risk. Conclusion: TERT mutated ITNs have a high risk of malignancy (84 %), and the current data does not show a difference in malignancy rate between isolated TERT mutations and TERT + RAS co-mutated ITNs. When described, TERT + RAS co-mutated ITNs did not have a higher rate of high-risk histopathology as compared to isolated TERT mutated lesions. Most TERT mutated ITNs did not have a description of histopathology risk and the oncologic outcomes, including rate of recurrence, metastases, and disease specific survival, are unknown. Further data is needed to determine if TERT mutated ITNs should be subjected to aggressive initial treatment.

Analysis of Head and Neck Primary Cutaneous Mucinous Carcinoma: An Indolent Tumor of the Eccrine Sweat Glands.

BACKGROUND/OBJECTIVES: Primary cutaneous mucinous carcinoma (PCMC) of the head and neck is a rare pathologic entity that is an adenocarcinoma of the eccrine sweat glands. Though it has low metastatic potential, it does have a significant recurrence rate. Due to its rarity, its clinical features are not well-known. METHODS: The authors searched the National Cancer Database (NCDB) for all cases of PCMC with primary sites of the skin of the head and neck confirmed histologically diagnosed from 2004 to 2016. Those with missing survival information were excluded. Kaplan-Meier (KM) and Cox proportional-hazards models were used to analyze the epidemiology and survival outcomes of PCMC. RESULTS: The authors analyzed 289 cases. Females were more commonly affected (58.8%; P < 0.05) with the most common primary sites being the eyelid (41.9%) and scalp/neck (25.3%). The average age of diagnosis was 63.8 years (± SD 12.5). Almost all patients received surgery as standalone treatment (92.7%) with wide local excision being the common surgery performed (36.3%). Mohs surgery represented 15.2% of surgically treated cases. Mean overall survival (OS) was 11.4 years with 5-year and 10-year OS being 85.0% and 78.0%, respectively. Most cases were localized at diagnosis with only 2% metastatic at presentation. KM analysis indicated that surgical procedure type, age, tumor diameter, Charlson-Deyo Comorbidity Score, facility type, and stage were significant predictors of OS (P < 0.05). Cox proportional-hazards analysis did not reveal independent association of the aforementioned factors with OS. CONCLUSION: Primary cutaneous mucinous carcinoma has an excellent prognosis with 98% of cases being diagnosed in Stage I and Stage II. As most cases present in the eyelid, special attention should be given to surgical treatment to ensure optimal aesthetic outcomes in this sensitive region. This study represents the largest cohort of head and neck PCMC studied to date.

Microcystic adnexal carcinoma of the head and neck: Characteristics, treatment, and survival statistics.

Studies on microcystic adnexal carcinoma (MAC) survival rates have been limited. This effort examines the association of patient demographics, treatment modalities, and tumor stage with overall survival (OS) in patients with MAC of the head and neck. All cases of MAC with primary sites of the skin of the head and neck, confirmed histologically, and diagnosed from 2004 to 2016 in the National Cancer Database, were analyzed. We utilized Kaplan-Meier and Cox proportional-hazard models to analyze the characteristics and survival outcomes of the 415 cases that met the criteria. The mean age of diagnosis was 63.8 years (SD ±15.8). Mean OS was 10.8 years with 5- and 10-year OS being 81.0% and 68.0%, respectively. Women were more frequently affected (59.0%; P < .001). Stand-alone primary site surgery was the most common treatment (81.4%): 15.9% of patients were treated with postexcision radiation therapy (RT). 18.3% were treated with RT with or without surgery and/or chemotherapy. RT was independently associated with a decreased hazard of death (HR = 0.23; P = .044). MAC of the head and neck disproportionately affects whites, is more common in women, and has the potential to metastasize. Surgical excision is the commonest treatment; our study shows benefit from judicious RT.