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- Hysek, M, et al.
(författare)
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Clinical Routine TERT Promoter Mutational Screening of Follicular Thyroid Tumors of Uncertain Malignant Potential (FT-UMPs): A Useful Predictor of Metastatic Disease
- 2019
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Ingår i: Cancers. - : MDPI AG. - 2072-6694. ; 11:10
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Tidskriftsartikel (refereegranskat)abstract
- Mutations of the Telomerase reverse transcriptase (TERT) gene promoter are recurrently found in follicular thyroid carcinoma (FTC) and follicular tumors of uncertain malignant potential (FT-UMP), but nearly never in follicular thyroid adenoma (FTA). We, therefore, believe these mutations could signify malignant potential. At our department, postoperative TERT promoter mutational testing of FT-UMPs was implemented in 2014, with a positive mutation screening leading to vigilant follow-up and sometimes adjuvant treatment. To date, we screened 51 FT-UMPs and compared outcomes to 40 minimally invasive FTCs (miFTCs) with known TERT genotypes. Eight FT-UMPs (16%) displayed TERT promoter mutations, of which four cases underwent a completion lobectomy at the discretion of the patient, and a single patient also opted in for radioiodine (RAI) treatment. Three mutation-positive patients developed distant metastases, registered in one patient receiving a completion lobectomy and in two patients with no additional treatment. Three out of four patients who received additional surgery, including the RAI-treated patient, are still without metastatic disease. We conclude that FT-UMPs with TERT promoter mutations harbor malignant potential and exhibit at least similar recurrence rates to TERT-promoter-mutated miFTCs. Mutational screening should constitute a cornerstone analysis in the histopathological work-up of FT-UMPs.
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- Juhlin, CC, et al.
(författare)
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Clear Cell Variant of a Follicular Thyroid Tumor With Uncertain Malignant Potential: A Case Report
- 2019
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Ingår i: International journal of surgical pathology. - : SAGE Publications. - 1940-2465 .- 1066-8969. ; 27:3, s. 290-293
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Tidskriftsartikel (refereegranskat)abstract
- Follicular neoplasms of the thyroid gland are most often characterized by follicular-patterned thyrocytes with a neutrally stained cytoplasm, while a minority of cases present with oncocytic differentiation (Hürthle cell tumors). Exceedingly rare variants with a clear cell phenotype have also been reported, both as clear cell follicular thyroid adenomas (ccFTAs) and clear cell follicular carcinomas (ccFTCs). We present a patient with a 30-mm lesion in the thyroid isthmus in which the preoperative cytology proposed a follicular tumor. On postoperative histopathological evaluation, the tumor surprisingly displayed uniform clear-cell differentiation. No nuclear features suggestive of papillary thyroid carcinoma were observed, and differential diagnoses such as medullary thyroid carcinoma, metastatic renal cell, and parathyroid carcinoma were ruled out. The histological investigation revealed intracapsular collections of tumor cells displaying a debatable relation to the surrounding capsule and blood vessels, and the final diagnosis was a follicular tumor of uncertain malignant potential (FT-UMP) as defined by the WHO 2017 classification. As subsets of FT-UMPs with TERT promoter mutations do recur as advanced malignant tumors, a sequencing analysis was undertaken but could not identify TERT promoter mutations at position C228 or C250. To our knowledge, no previous literature has described a clear cell phenotype in an FT-UMP. We therefore advocate that endocrine pathologists should be aware of this entity in addition to ccFTAs and ccFTCs.
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- Juhlin, CC, et al.
(författare)
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Perithyroidal Salivary Gland Acinic Cell Carcinoma: Morphological and Molecular Attributes of a Unique Lesion
- 2021
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Ingår i: Head and neck pathology. - : Springer Science and Business Media LLC. - 1936-0568. ; 15:2, s. 628-637
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Tidskriftsartikel (refereegranskat)abstract
- Rarely, salivary gland tumors such as mucoepidermoid carcinoma, mammary analogue secretory carcinoma and mucinous carcinoma arise as primary tumors from ectopic or metaplastic salivary gland tissue adjacent to or within the thyroid gland. We report for the first time a case of primary salivary acinic cell carcinoma (AcCC) adjacent to the thyroid gland in a 71-year-old female patient with Crohns disease and a previous history of malignant melanoma. Following the development of a nodule adjacent to the left thyroid lobe, a fine-needle aspiration biopsy was reported as consistent with a follicular lesion of undetermined significance (Bethesda III). A left-sided hemithyroidectomy was performed. A circumscribed lesion measuring 33 mm was noted adjacent to the thyroid and trapping parathyroid, it was composed of solid nests and glands with microcystic and follicular patterns. The tumor was negative for thyroid, parathyroid and paraganglioma markers, but positive for pan-cytokeratins, CK7, CD10, CD117, androgen receptor and HNF-beta. A metastasis of a thyroid-like renal cell carcinoma was suspected but ruled out, and the patient had no evident lesions on extensive radiology of the urogenital, pulmonary and GI tracts. Based on the morphology, a diagnosis of AcCC was suggested, and confirmed with DOG1 and PAS-diastase staining. Molecular analyses pinpointed a constitutional ASXL1 variant of uncertain significance, but no fusion events. The patient had no radiological or clinical evidence of parotid, submandibular or sublingual tumors postoperatively, and the excised lesion was therefore assumed to be a primary tumor. We here detail the morphological and immunophenotypic profile of this previously undescribed perithyroidal tumor.
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