0000000000435942
AUTHOR
Julia I. Staubitz
Detection of RET rearrangements in papillary thyroid carcinoma using RT-PCR and FISH techniques - A molecular and clinical analysis.
Abstract Introduction Oncogenic BRAF and RAS mutations as well as multiple known (and yet unknown) RET fusion oncogenes comprise the majority of causative molecular alterations in papillary thyroid carcinoma (PTC). Apparently “mutation-negative” PTCs encompass a heterogenous group impeding analysis of prognostic significance of underlying genetics. Material and methods BRAF wild type PTC tissue of 56 patients was analyzed using two established methods: hybrid-specific RT-PCR for the predominant rearrangement RET/PTC1 and fluorescent in situ hybridization (FISH). Clinical features of the cases with and without RET rearrangement were compared (patient age, gender, tumor size, focality, lymph …
Synchronous Antithyroid Drug-Induced Agranulocytosis and Fournier Gangrene
ABSTRACT: Objective: Antithyroid drugs (ATDs) such as thioimidazoles (e.g., methimazole, also called thiamazole, and carbimazole) and propylthiouracil are commonly used for the treatment of hyperthyroidism. A life-threatening reaction is agranulocytosis with an incidence of 0.1 to 0.5%. There are very few cases in the literature showing that the intake of ATDs finally led to sepsis with accompanying tissue necrosis.Methods: We present an unusual case of severe symptomatic agranulocytosis with sudden development of Fournier gangrene in a patient who was treated with ATDs for hyperthyroidism due to Graves disease.Results: A 69-year-old female was referred to our hospital with fever and a sore…
ANKRD26-RET - A novel gene fusion involving RET in papillary thyroid carcinoma
Abstract Background Rearrangements of RET are drivers of oncogenesis, traceable in different cancer types as papillary thyroid carcinoma (PTC), non-small cell lung cancer, colorectal or breast cancer. Anchored multiplex PCR based next-generation sequencing (NGS) can detect RET rearrangements involving previously unknown partner genes. Methods A sample of PTC underwent NGS, following detection of RET rearrangement by fluorescence in situ hybridization. Expression analysis of ANKRD26 and RET was performed for the tumor harboring ANKRD26-RET, for corresponding normal thyroid tissue and PTC tumors with representative genetic alterations (BRAFV600E, CCDC6-RET), complemented by a comparative sear…
Novel rearrangements involving the RET gene in papillary thyroid carcinoma.
Abstract Background In the field of gene fusions driving tumorigenesis in papillary thyroid carcinoma (PTC), rearrangement of the proto-oncogene RET is the most frequent alteration. Apart from the most common rearrangement of RET to CCDC6, more than 15 partner genes are yet reported. The landscape of RET rearrangements in PTC (“RET-PTC”) can notably be enlarged by modern targeted next-generation sequencing, indicating similarities between oncogenic pathways in other cancer types with identical genetic alterations. Methods Targeted next-generation sequencing was performed for two cases of BRAF-wild type PTC with confirmation of the results by Sanger sequencing. A “UniProt” database research …
Real-world EUROCRINE® registry data challenge the reliability of Bethesda cytopathology for thyroid surgery indication
Abstract Objectives Fine-needle aspiration cytology (FNAC) is recommended by international guidelines for the preoperative evaluation of suspicious thyroid nodules >1 cm. Despite robust evidence from endocrine centers demonstrating the key role of FNAC results for the indication of surgery, the method is not routinely used in European clinics. The database EUROCRINE®, which was introduced in 2015 with the scope of registering operations of the endocrine system, allows for a large-scale analysis of the current service reality in Europe concerning FNAC use and associated accuracy. Methods Operations performed to “exclude malignancy”, registered from January 2015 to December 2018 in EUROCRI…