Kinase Fusion–Related Thyroid Carcinomas: Towards Predictive Models for Advanced Actionable Diagnostics

Chu, Ying-Hsia; Sadow, Peter M.

doi:10.1007/s12022-022-09739-9

Cited by 10 publications

(4 citation statements)

References 85 publications

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“…Thyroid carcinomas exhibit various somatic driver mutations. The most common molecular changes in PTC involve BRAFp.v600E (29% to 69%) [ 21 ], followed by RET (approximately 28%; CCDC6:RET being most common) and NTRK1/3 fusions (15%) [ 22 ]. In follicular thyroid carcinoma, the primary somatic mutation is RAS (30% to 50%).…”

Section: Discussionmentioning

confidence: 99%

Two Cases of Adrenal Cysts Lined by Thyroid Follicular Epithelium: Addressing Cellular Origin and Malignancy Concerns

Kanzawa,

Kanda,

Fukuoka

et al. 2024

JCEM Case Reports

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Adrenal cysts lined by thyroid follicular epithelium are rare, with only 14 reported cases of “ectopic thyroid tissue” to date. While the primary consideration for differential diagnosis is thyroid carcinoma metastasis, exclusion of metastases is determined based on the absence of a primary thyroid lesion, serological euthyroidism, lack of thyroglobulin elevation, and absence of epithelial atypia. Herein, we report 2 cases of adrenal cysts lined by thyroid follicular epithelium. Case 1 was a 60-year-old woman with a right adrenal cyst. Case 2 was a 51-year-old man with a left adrenal cyst. Over time, both cysts became larger, necessitating an adrenalectomy. Cystic epithelia were lined with thyroid follicular epithelium, exhibiting moderate atypia. Human bone marrow endothelial cell marker-1 and galectin-3 were focally positive; CK19 was positive in Case 1, and all 3 markers were positive in Case 2, previously reported as an immunophenotype of thyroid carcinoma. CD56 expression was positive in both cases. Targeted next-generation sequencing revealed several low-frequency mutations; however, no major driver alterations for thyroid cancer were detected. Adrenal cysts can be lined by thyroid follicular epithelium. Challenges arise in determining the malignant or benign nature of adrenal cysts.

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Section: Discussionmentioning

confidence: 99%

Two Cases of Adrenal Cysts Lined by Thyroid Follicular Epithelium: Addressing Cellular Origin and Malignancy Concerns

Kanzawa,

Kanda,

Fukuoka

et al. 2024

JCEM Case Reports

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“…In the past decades, molecular testing has played an ever-increasing role as an adjunct to preoperative fine-needle aspiration diagnosis of thyroid nodules, for risk stratification, and more recently as predictive of response to molecularly targeted therapy. 2 , 15 , 17 , 18 , 23 , 24 , 25 , 26 , 27 , 28 The principal genetic alterations of DTC are NRAS , HRAS , KRAS , BRAF , PTEN , EIF1AX , DICER1 , PIK3CA , TERT , TP53 , and RET mutations and PAX8/PPARG , ALK , NTRK1 , and NTRK3 rearrangements. They fall into two broad categories: driver alterations that promote tumor development, and secondary ones superimposed to the driver events promoting progression to high-grade tumors and anaplastic carcinoma.…”

Section: Discussionmentioning

confidence: 99%

“…In the past years, molecular profiling has lately assumed even more substantial relevance, as NTRK and RET rearrangements have been recognized as actionable targets for metastatic RAI-R-DTC, inevitably expanding the spectrum of gene alterations to look for. 12 , 15 , 17 , 18 , 27 , 28 …”

Section: Discussionmentioning

confidence: 99%

Clinical relevance of gene mutations and rearrangements in advanced differentiated thyroid cancer

Nannini,

Repaci,

Nigro

et al. 2023

ESMO Open

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“…It includes chromosome instability (CI) as gross chromosome numerical and structural alterations such as polysomy/aneuploidy, monosomy, and rearrangements (i.e., translocations) in specific or vast chromosome regions (1,2). Concerning thyroid carcinoma, the corresponding follicular epithelia demonstrate chromosome gains and losses and also specific gene amplifications, mutations or allelic losses (3). Thyroid carcinoma includes a broad spectrum of different histological sub-types, such as papillary thyroid carcinoma (PTC), follicular thyroid carcinoma (FTC), anaplastic thyroid cancer (ATC), and medullary thyroid carcinoma (4).…”

Section: Abstract Alterations In Significant Genes Located On Chromos...mentioning

confidence: 99%

Anti-EGFR/BRAF-Tyrosine Kinase Inhibitors in Thyroid Carcinoma

Papanikolaou¹,

Kyrodimos²,

Mastronikolis³

et al. 2023

CDP

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Alterations in significant genes located on chromosome 7 - including epidermal growth factor receptor (EGFR) and also v-Raf murine sarcoma viral oncogene homolog B (BRAF) as a mitogen-activated protein kinase (MAPK) - combined or not with numerical imbalances of the whole chromosome (aneuploidy-polysomy) are crucial genetic events involved in the development and progression of malignancies. Identification of EGFR/BRAF-dependent specific somatic mutations and other mechanisms of deregulation (i.e., amplification) is critical for applying targeted therapeutic approaches [tyrosine kinase inhibitors (TKIs] or monoclonal antibodies (mAbs). Thyroid carcinoma is a specific pathological entity characterized by a variety of histological sub-types. Follicular thyroid carcinoma (FTC), papillary thyroid carcinoma (PTC), medullary thyroid carcinoma (MTC), and anaplastic thyroid carcinoma (ATC) represent its main sub-types. In the current review, we explore the role of EGFR/BRAF alterations in thyroid carcinoma in conjunction with the corresponding anti-EGFR/BRAF TKI-based novel therapeutic strategies for patients with specific genetic signatures.

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Kinase Fusion–Related Thyroid Carcinomas: Towards Predictive Models for Advanced Actionable Diagnostics

Cited by 10 publications

References 85 publications

Two Cases of Adrenal Cysts Lined by Thyroid Follicular Epithelium: Addressing Cellular Origin and Malignancy Concerns

Two Cases of Adrenal Cysts Lined by Thyroid Follicular Epithelium: Addressing Cellular Origin and Malignancy Concerns

Clinical relevance of gene mutations and rearrangements in advanced differentiated thyroid cancer

Anti-EGFR/BRAF-Tyrosine Kinase Inhibitors in Thyroid Carcinoma

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