Molecular Pathology of Poorly Differentiated and Anaplastic Thyroid Cancer: What Do Pathologists Need to Know?

Volante, Marco; Lam, Alfred King‐Yin; Papotti, Mauro; Tallini, Giovanni

doi:10.1007/s12022-021-09665-2

Cited by 67 publications

(53 citation statements)

References 82 publications

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“…Differentiated TCs, which usually display an indolent clinical behavior and a favorable prognosis, can be further classified as papillary (PTC) (85–90%), follicular (FTC) (5–10%), and Hurthle cell (HCTC) (3%) carcinomas [ 5 , 6 ]. Poorly differentiated and anaplastic TCs are rarer, but they are characterized by an aggressive course and a poor prognosis [ 7 ]. Finally, a small proportion of TCs stem from neuroendocrine C-cells and present medullary histotypes ( B-Raf proto-oncogene MTCs); up to one quarter (25%) of these tumors are familiar [ 8 ].…”

Section: Introductionmentioning

confidence: 99%

Opportunities and Challenges of Liquid Biopsy in Thyroid Cancer

Romano

Martorana

Pennisi

et al. 2021

IJMS

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Thyroid cancer is the most common malignancy of the endocrine system, encompassing different entities with distinct histological features and clinical behavior. The diagnostic definition, therapeutic approach, and follow-up of thyroid cancers display some controversial aspects that represent unmet medical needs. Liquid biopsy is a non-invasive approach that detects and analyzes biological samples released from the tumor into the bloodstream. With the use of different technologies, tumor cells, free nucleic acids, and extracellular vesicles can be retrieved in the serum of cancer patients and valuable molecular information can be obtained. Recently, a growing body of evidence is accumulating concerning the use of liquid biopsy in thyroid cancer, as it can be exploited to define a patient’s diagnosis, estimate their prognosis, and monitor tumor recurrence or treatment response. Indeed, liquid biopsy can be a valuable tool to overcome the limits of conventional management of thyroid malignancies. In this review, we summarize currently available data about liquid biopsy in differentiated, poorly differentiated/anaplastic, and medullary thyroid cancer, focusing on circulating tumor cells, circulating free nucleic acids, and extracellular vesicles.

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Section: Introductionmentioning

confidence: 99%

Opportunities and Challenges of Liquid Biopsy in Thyroid Cancer

Romano

Martorana

Pennisi

et al. 2021

IJMS

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“…ATC is one of the most aggressive tumors, with disease-specific mortality approaching 100% [50][51][52]. These tumors affect patients approximately 60 to 70 years of age.…”

Section: Anaplastic Thyroid Carcinomamentioning

confidence: 99%

Thyroid Carcinoma: Phenotypic Features, Underlying Biology and Potential Relevance for Targeting Therapy

Yuan

Mirshahidi

et al. 2021

IJMS

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Thyroid carcinoma consists a group of phenotypically heterogeneous cancers. Recent advances in biological technologies have been advancing the delineation of genetic, epigenetic, and non-genetic factors that contribute to the heterogeneities of these cancers. In this review article, we discuss new findings that are greatly improving the understanding of thyroid cancer biology and facilitating the identification of novel targets for therapeutic intervention. We review the phenotypic features of different subtypes of thyroid cancers and their underlying biology. We discuss recent discoveries in thyroid cancer heterogeneities and the critical mechanisms contributing to the heterogeneity with emphases on genetic and epigenetic factors, cancer stemness traits, and tumor microenvironments. We also discuss the potential relevance of the intratumor heterogeneity in understanding therapeutic resistance and how new findings in tumor biology can facilitate designing novel targeting therapies for thyroid cancer.

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“…BRAF-mutated, poorly differentiated, anaplastic carcinoma will have a papillary component, suggesting that these tumors progress from BRAF-positive papillary carcinoma [33][34][35][36]. The BRAF V600E mutation is not found in follicular thyroid cancers and benign thyroid nodules [23].…”

Section: Braf Expression In Thyroid Carcinomasmentioning

confidence: 99%

Correlation of the Expression of BRAF V600E Mutation With Various Phenotypic Expressions of Thyroid Neoplasms

Harikrishnan¹,

Kumari²,

Ramkumar³

et al. 2021

Cureus

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We aimed to assess the incidence of the BRAF V600E mutation in thyroid neoplasms at a tertiary care center and its association with various phenotypic features. Methods and materialWe included all cases diagnosed as thyroid neoplasm in the past decade at the Department of Pathology of our institute and obtained their clinical details from the medical records department of the institute after obtaining permission from the authorities and due International Human Epigenome Consortium clearance. We included data on age, sex, clinical presentation, hormone status, and T and N status of the malignant neoplasms. Hematoxylin and eosin (H&E) slides of all cases were evaluated for the type of neoplasm, nuclear features, invasion into the capsule and vascular spaces, extrathyroidal extension, lymph node metastases, mitoses, necrosis, and presence/absence of amyloid. Paraffin blocks of sections with high tumor density and less normal tissue were chosen for evaluation after H&E staining. The slides showing tumors with large areas of hemorrhage, cystic change, or necrosis were excluded. Two primers were used to amplify a 339-bp fragment containing the V600E mutation in exon 15 of BRAF. Tissues were prepared from formalinfixed paraffin-embedded (FFPE) blocks, and DNA was isolated using a standard protocol BRAF NF and BRAF NR Primer Standardized Protocol For FFPE Tissue DNA. Percentages and tables have been used for data presentation. ResultsAmong 47 identified cases, 14 were positive for the BRAF V600E mutation and had papillary carcinoma (n = 9) or follicular neoplasms (n = 5; follicular adenoma, n = 3; follicular carcinoma, n = 2). In the BRAF-positive papillary carcinomas, five cases were aged 20-30 years, eight were female, eight (88.88%) were euthyroid, and one was hypothyroid. Furthermore, 55.55% (5/9 cases) of BRAF-positive cases were stage I, 33.3% (3/9 cases) were stage II, and 0.02% (1/9 cases) were stage III. ConclusionsIn our cohort, 31% of cases of papillary thyroid carcinoma (PTC) and 18.72% of follicular neoplasms expressed the BRAF V600E mutation. BRAF V600E mutation-positive papillary thyroid carcinomas consistently showed all characteristic nuclear features, such as nuclear crowding, overlapping, and grooves.Considering the greater prevalence in the younger age group, the importance of mutation surveillance in PTCs for a total thyroidectomy may be warranted in mutation-positive patients.

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Molecular Pathology of Poorly Differentiated and Anaplastic Thyroid Cancer: What Do Pathologists Need to Know?

Cited by 67 publications

References 82 publications

Opportunities and Challenges of Liquid Biopsy in Thyroid Cancer

Opportunities and Challenges of Liquid Biopsy in Thyroid Cancer

Thyroid Carcinoma: Phenotypic Features, Underlying Biology and Potential Relevance for Targeting Therapy

Correlation of the Expression of BRAF V600E Mutation With Various Phenotypic Expressions of Thyroid Neoplasms

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