^
4d
Correlation of fine needle aspiration cytology and cell block study of category III, IV, and V (TBSRTC-2017) thyroid lesions with special reference to cytokeratin-19 immunohistochemical staining. (PubMed, Indian J Pathol Microbiol)
In the case of follicular neoplasm, 1 showed 3+ positivity, 3 cases had 1+ 2+ positivity, and 13 cases revealed negative staining. Role of CK19 in distinguishing papillary carcinoma of thyroid from other lesions in cytologically diagnosed Category III, IV, and V (TBSRTC-2017) cases can be demonstrated.
Observational data • Journal • Cell block
|
KRT19 (Keratin 19)
5d
Treatment Using 177Lu-DOTA-EB-FAPI in Patients With Radioactive Iodine Refractory Thyroid Cancer (clinicaltrials.gov)
P2, N=20, Recruiting, The First Affiliated Hospital of Xiamen University | Not yet recruiting --> Recruiting
Enrollment open
|
FAP (Fibroblast activation protein, alpha)
|
177Lu-DOTA-EB-FAPI
28d
New P2 trial
|
BRAF (B-raf proto-oncogene) • CD4 (CD4 Molecule)
|
BRAF V600E
|
vudalimab (XmAb717)
2ms
Clinicopathological indicators for TERT promoter mutation in papillary thyroid carcinoma. (PubMed, Clin Endocrinol (Oxf))
This study revealed a relatively low frequency of TERT promoter mutations in Korean patients with PTC. Certain clinicopathological features including old age, tall cell variant, increased mitoses, tumour necrosis and gross ETE were found to be indicative of TERT promoter mutations in PTCs, suggesting that mutational analysis in a particular group of PTCs can be effective in regions with low mutation rates.
Journal
|
BRAF (B-raf proto-oncogene) • TERT (Telomerase Reverse Transcriptase)
|
BRAF V600E • BRAF V600 • TERT mutation • TERT promoter mutation
3ms
Immune characterization of thyroid neoplasm's and its variants using immunohistochemical markers: CK-19, Galectin-3 and Hector Battifora mesothelial-1. (PubMed, Ann Diagn Pathol)
Gal-3 in combination either with CK-19 or HBME-1 improves the sensitivity and specificity of detection of papillary carcinoma, its variants and its differentiation from follicular patterned lesions to 100% with a significant p value.
Journal
|
KRT19 (Keratin 19) • LGALS3 (Galectin 3)
3ms
Granular cell tumor of thyroid: a case series with molecular characterization highlighting unique pitfalls. (PubMed, Endocrine)
This unusual site poses unique differential diagnostic pitfalls by mimicking other oncocytic head and neck lesions, particularly thyroid Hürthle cell neoplasms. We confirm that thyroid GCT also harbor V-ATPase component inactivating mutations that characterize these tumors, and that additional PI3K pathway alterations may not necessarily predict aggressive behavior.
Journal
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • ATP6AP2 (ATPase H+ Transporting Accessory Protein 2)
|
PIK3CA mutation • PIK3CA H1047R
3ms
Safety and efficacy of YBL-006, an anti-PD-1 monoclonal antibody in advanced solid tumors: A phase I study. (ASCO 2022)
Interim analysis of phase I trial of YBL-006 shows a tolerable safety profile and clinical activity. Notable anti-tumor efficacy was observed in inflamed immune phenotype.
Clinical • P1 data • PD(L)-1 Biomarker • IO biomarker
|
Lunit SCOPE IO
|
acrixolimab (YBL-006)
4ms
Extracolonic tumours in a pedigree with EPCAM-related Lynch Syndrome. (PubMed, Eur J Med Genet)
Only one family member was submitted to hemithyroidectomy due a right-lobe Hürthle cell carcinoma at 56 years-old. This report illustrates the existence of intrafamilial clinical heterogeneity among carriers of this EPCAM alteration, and hence the difficulty in predicting phenotype for EPCAM-associated Lynch syndrome.
Journal
|
MSH2 (MutS Homolog 2) • EPCAM (Epithelial cell adhesion molecule)
|
MSH2 mutation
4ms
Reinducing Radioiodine-sensitivity in Radioiodine-refractory DTC Using Lenvatinib (RESET) (clinicaltrials.gov)
P=N/A, N=12, Recruiting, Leiden University Medical Center | Not yet recruiting --> Recruiting | Trial completion date: Jan 2024 --> Jun 2024 | Trial primary completion date: Sep 2023 --> Jan 2024
Enrollment open • Trial completion date • Trial primary completion date
|
TG (Thyroglobulin)
|
lenvatinib
4ms
TROP2: a potential marker in diagnosis of thyroid neoplasms. (PubMed, Ir J Med Sci)
TROP2 was a helpful marker for differentiating PTC, especially in the classic, tall cell, hobnail, and Warthin-like variants, benign and non-neoplastic lesions, and other neoplasms of the thyroid.
Journal
|
TROP2 (Trophoblast Cell Surface Antigen 2)
4ms
Iodine I-131 With or Without Selumetinib in Treating Patients With Recurrent or Metastatic Thyroid Cancer (clinicaltrials.gov)
P2, N=60, Active, not recruiting, Academic and Community Cancer Research United | Trial completion date: Feb 2022 --> Dec 2022
Trial completion date • Combination therapy
|
TG (Thyroglobulin)
|
Koselugo (selumetinib)
7ms
Pathogenic Mitochondrial DNA Mutation Load Inversely Correlates with Malignant Features in Familial Oncocytic Parathyroid Tumors Associated with Hyperparathyroidism-Jaw Tumor Syndrome. (PubMed, Cells)
MtDNA sequencing revealed a rare ribosomal RNA mutation in the germline of all HPT-JT affected individuals whose pathogenicity was functionally evaluated via cybridization technique, and which was counter-selected in the most aggressive infiltrating carcinoma, but positively selected in adenomas. In all tumors different somatic mutations accumulated on this genetic background, with an inverse clear-cut correlation between the load of pathogenic mtDNA mutations and the indolent behavior of neoplasms, highlighting the importance of the former both as modifiers of cancer fate and as prognostic markers.
Journal • Tumor Mutational Burden
|
TMB (Tumor Mutational Burden)
8ms
The Safety and Effectiveness of rhTSH in Radioiodine Treatment for Patients With Differentiated Thyroid Cancer. (clinicaltrials.gov)
P2, N=120, Recruiting, Suzhou Zelgen Biopharmaceuticals Co.,Ltd | Trial completion date: Oct 2021 --> Oct 2022 | Trial primary completion date: Sep 2021 --> Feb 2022
Clinical • Trial completion date • Trial primary completion date
|
TG (Thyroglobulin)
|
recombinant human thyroid stimulating hormone for injection (rhTSH)
9ms
Targeting the mTOR Pathway in Hurthle Cell Carcinoma Results in Potent Anti-Tumor Activity. (PubMed, Mol Cancer Ther)
Strikingly, mTOR inhibitor treatment significantly reduced lung metastatic lesions, with the decreased expression of Snail in xenograft tumors. Our data demonstrates that mTOR pathway blockade represents a novel treatment strategy for HCC.
Journal
|
CCNA2 (Cyclin A2)
9ms
Papillary thyroid carcinoma tall cell variant shares accumulation of mitochondria, mitochondrial DNA mutations, and loss of oxidative phosphorylation complex I integrity with oncocytic tumors. (PubMed, J Pathol Clin Res)
Similar to oncocytic thyroid tumors, PTC-TCV is characterized by mtDNA mutations, massive accumulation of mitochondria, and loss of OXPHOS integrity. IHC loss of NDUFS-4 can be used as a surrogate marker for OXPHOS disruption and to reliably diagnose PTC-TCV.
Journal
|
BRAF (B-raf proto-oncogene)
|
BRAF V600E • BRAF V600
10ms
Molecular Signature Expands the Landscape of Driver Negative Thyroid Cancers. (PubMed, Cancers (Basel))
Both negative groups showed distinct BRS, ERK, and TDS scores, tumor mutation burden, signaling pathways and immune cell profile. Altogether, here we report novel gene variants and describe cancer-related pathways that might impact preoperative diagnosis and provide insights into thyroid tumor biology.
Journal • Tumor Mutational Burden
|
BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • LRP1B (LDL Receptor Related Protein 1B) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • NCOR1 (Nuclear Receptor Corepressor 1) • PPARG (Peroxisome Proliferator Activated Receptor Gamma) • SPOP (Speckle Type BTB/POZ Protein) • PAX8 (Paired box 8) • SOS1 (SOS Ras/Rac Guanine Nucleotide Exchange Factor 1)
|
BRAF V600E • BRAF V600 • PPARG positive
10ms
[VIRTUAL] A CASE OF HÜRTHLE CELL CARCINOMA PRESENTING WITH MALIGNANT PLEURAL EFFUSION (CHEST 2021)
Though this patient had negative cytopathologic studies, the recurrence of his unilateral pleural effusion accompanied by progression of his cancer without any other obvious cause cause makes malignant pleural effusion due to HCC the most likely diagnosis.
Clinical • Pleural effusion
|
TG (Thyroglobulin)
10ms
Expanding the spectrum of thyroid carcinoma with somatic DICER1 mutation: a survey of 829 thyroid carcinomas using MSK-IMPACT next-generation sequencing platform. (PubMed, Virchows Arch)
All patients were adults with a median age of diagnosis of 59 years (range: 22-82). Although rare, a subset of thyroid cancers, including the aggressive subtypes, display somatic DICER1 mutations, some of which have oncogenic potential.
Journal • Next-generation sequencing
|
DICER1 (Dicer 1 Ribonuclease III)
|
MSK-IMPACT
11ms
[VIRTUAL] An unusual case of medullary thyroid carcinoma mimicking papil- lary thyroid carcinoma (ECP 2021)
Diagnosis of the papillary variant of Medullary thyroid car- cinoma due to its characteristics creates a difficulty in its diagnosis and confusion with papillary carcinoma. The morphological diagnosis with- out subsidiary clinical information (calcitonin test) can be compromised, and it is essential to perform the immunohistochemical study for the final diagnosis, which is considered the gold standard.
Clinical
|
NKX2-1 (NK2 Homeobox 1) • CHGA (Chromogranin A)
1year
Cediranib Maleate With or Without Lenalidomide for the Treatment of Thyroid Cancer (clinicaltrials.gov)
P1/2, N=127, Completed, National Cancer Institute (NCI) | Active, not recruiting --> Completed
Trial completion
|
BRAF (B-raf proto-oncogene) • TG (Thyroglobulin)
|
lenalidomide • Recentin (cediranib)
1year
Whole-genome sequencing of follicular thyroid carcinomas reveal recurrent mutations in microRNA processing subunit DGCR8. (PubMed, J Clin Endocrinol Metab)
We describe the genomic and transcriptomic landscape in wiFTCs and HCCs and identify novel recurrent mutations and copy number alterations with possible driver properties and lay the foundation for future studies.
Journal
|
KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • HRAS (Harvey rat sarcoma viral oncogene homolog) • MUTYH (MutY homolog)
|
TP53 mutation • KRAS mutation • PTEN mutation
1year
The Safety and Effectiveness of rhTSH in Radioiodine Treatment for Patients With Differentiated Thyroid Cancer. (clinicaltrials.gov)
P2, N=120, Recruiting, Suzhou Zelgen Biopharmaceuticals Co.,Ltd | Not yet recruiting --> Recruiting | Trial completion date: Aug 2023 --> Oct 2021 | Trial primary completion date: Jul 2023 --> Sep 2021
Clinical • Enrollment open • Trial completion date • Trial primary completion date
|
TG (Thyroglobulin)
|
recombinant human thyroid stimulating hormone for injection (rhTSH)
1year
Cytological and molecular diagnosis of Hürthle cell thyroid tumors: Analysis of three cases. (PubMed, Mol Clin Oncol)
In the third case (Hürthle cell adenoma), no markers of malignancy were identified. The present study demonstrated that molecular testing together with cytological analysis can reduce the isk of error in the preoperative cytological diagnosis of unclear or ambivalent cases.
Clinical • Journal
|
MIR375 (MicroRNA 375) • HMGA2 (High mobility group AT-hook 2) • MIR146B (MicroRNA 146b) • MIR221 (MicroRNA 221)
1year
Nuclear-specific accumulation of telomerase reverse transcriptase (TERT) mRNA in TERT promoter mutated follicular thyroid tumours visualised by in situ hybridisation: a possible clinical screening tool? (PubMed, J Clin Pathol)
TERT mRNA seems to be focally expressed and localised exclusively to the nucleus in TERT promoter mutated follicular thyroid tumours, possibly reflecting a true biological and unorthodox phenomenon worthy of further investigations.
Clinical • Journal
|
TERT (Telomerase Reverse Transcriptase)
|
TERT mutation • TERT promoter mutation
1year
Non-functioning oxyphilic parathyroid carcinoma: a case report. (PubMed, Surg Case Rep)
Non-functioning oxyphilic parathyroid carcinoma is an extremely rare malignancy, and definitive diagnosis is difficult to obtain preoperatively. Few reports have been made worldwide, and information on the long-term prognosis is scarce. Long-term surveillance by imaging is mandatory, since no indices that can be used as a marker for postoperative recurrence and metastasis have been identified.
Clinical • Journal
|
NKX2-1 (NK2 Homeobox 1)
over1year
Occurrence of sporadic medullary thyroid carcinoma in Graves' disease in association with a RET proto-oncogene mutation. (PubMed, Acta Clin Belg)
In this case, genetic testing should always be performed even if MTC is sporadic. Increased incidence of thyroid cancer in autoimmune thyroid diseases, as well as the link existing between autoimmunity, inflammation and carcinogenesis, leads us to hypothesize that the association here reported is not coincidental.
Journal
|
RET (Ret Proto-Oncogene)
|
RET mutation • RET M918T
over1year
Impact of molecular testing on detecting mimics of oncocytic neoplasms in thyroid fine-needle aspirates diagnosed as follicular neoplasm of Hürthle cell (oncocytic) type. (PubMed, Cancer Cytopathol)
A proportion of FNHCT nodules are AFTNs and oncocytic metaplasias, which can be suspected based on characteristic mutations or lack of alterations on molecular testing. Among resected FNHCTs, GH-CNAs characterize approximately half of histologically confirmed follicular oncocytic neoplasms.
Journal
|
BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • EZH2 (Enhancer of zeste 2 polycomb repressive complex 2 subunit) • TERT (Telomerase Reverse Transcriptase) • GNAS (GNAS Complex Locus) • PAX8 (Paired box 8)
|
TP53 mutation • BRAF V600E • BRAF V600 • EZH2 mutation • TERT mutation
over1year
Molecular alterations in Hürthle cell nodules and preoperative cancer risk. (PubMed, Endocr Relat Cancer)
In summary, the results of this study demonstrate that CNA characteristic of HCC also occur in HCA, although with lower frequency, and probability of cancer in nodules with CNA increases with nodule size. Detection of CNA, in conjunction with other mutations and nodule size, is helpful in predicting malignancy in thyroid nodules.
Journal
|
TERT (Telomerase Reverse Transcriptase)
|
TERT mutation
over1year
Do Molecular Profiles of Primary Versus Metastatic Radioiodine Refractory Differentiated Thyroid Cancer Differ? (PubMed, Front Endocrinol (Lausanne))
All specimens were stable for microsatellite instability testing, and the tumor mutation burden was low to intermediate. Therefore, the molecular profile of DTC primary and metastatic lesions can show heterogeneity, which may help explain some altered responses to therapeutic intervention.
Journal • Tumor Mutational Burden • PD(L)-1 Biomarker • IO biomarker
|
BRAF (B-raf proto-oncogene) • PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MSI (Microsatellite instability) • HRAS (Harvey rat sarcoma viral oncogene homolog) • TERT (Telomerase Reverse Transcriptase) • MUTYH (MutY homolog) • NTRK (Neurotrophic receptor tyrosine kinase)
|
PD-L1 expression • TP53 mutation • BRAF V600E • BRAF V600 • TERT mutation • TERT promoter mutation • NTRK fusion
over1year
[VIRTUAL] Patient-derived models of rare cancers in the National Cancer Institute’s patient-derived models repository (AACR 2021)
Also of clinical relevance, of two mesothelioma models available, one carries an NF2 driver mutation and the other BAP1 and LATS2 and a PDX model for Hurthle cell carcinoma has wide-spread loss of heterozygosity (LOH 80%). Models for other rare cancers are in development, including four cholangiocarcinoma PDXs with histopathologic confirmation that are currently being expanded for molecular characterization and distribution.
Clinical
|
CDKN2A (Cyclin-dependent kinase inhibitor 2A) • NF1 (Neurofibromin 1) • BAP1 (BRCA1 Associated Protein 1) • EWSR1 (EWS RNA Binding Protein 1) • FLI1 (Fli-1 Proto-Oncogene ETS Transcription Factor) • STAT6 (Signal transducer and activator of transcription 6)
|
CDKN2A deletion • NF1 mutation • BAP1 mutation • EWSR1-FLI1 fusion
over1year
Pancreatic Gastrinoma, Gastrointestinal Stromal Tumor (GIST), Pheochromocytoma, and Hürthle Cell Neoplasm in a Patient with Neurofibromatosis Type 1: A Case Report and Literature Review. (PubMed, Am J Case Rep)
This case of a pancreatic neuroendocrine tumor was associated with multiple additional neoplasms. Neuroendocrine tumors found in NF1 should raise suspicion of other malignancies.
Clinical • Review • Journal • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • NF1 (Neurofibromin 1) • PALB2 (Partner and localizer of BRCA2)
|
BRCA2 mutation • BRCA1 mutation • PALB2 mutation • NF1 mutation
over1year
SOX2 Is a Potential Novel Marker of Undifferentiated Thyroid Carcinomas. (PubMed, Cureus)
SOX2 may be a marker of loss of differentiation in thyroid carcinoma. In vitro as well as in vivo molecular studies are required to explore the possible role of SOX2 in thyroid carcinoma.
Journal
|
SOX2
over1year
Serum follistatin is increased in thyroid cancer and is associated with adverse tumor characteristics in humans. (PubMed, J Clin Endocrinol Metab)
FST serum levels are increased in TC patients and correlate with advanced tumor aggressiveness. Future longitudinal studies are needed to confirm and extend our observations.
Journal
|
IGF1 (Insulin-like growth factor 1) • INHBA (Inhibin, beta A) • STC2 (Stanniocalcin 2)
over1year
Testing the Combination of Cabozantinib, Nivolumab, and Ipilimumab (CaboNivoIpi) for Advanced Differentiated Thyroid Cancer (clinicaltrials.gov)
Trial completion date: Jan 2021 --> Jan 2022 | Trial primary completion date: Jan 2021 --> Jan 2022
Clinical • Trial completion date • Trial primary completion date • Combination therapy
|
ALB (Albumin)
|
Opdivo (nivolumab) • Yervoy (ipilimumab) • Cabometyx (cabozantinib tablet) • Cometriq (cabozantinib capsule) • CS1002 (ipilimumab biosimilar)
over1year
Preoperative Typing of Thyroid and Parathyroid Tumors with a Combined Molecular Classifier. (PubMed, Cancers (Basel))
The positive and negative predictive values of the method assessed in this study were, respectively, 100% and 98% for papillary thyroid carcinoma (n = 63), 100% and 100% for medullary thyroid carcinoma (n = 19), 43.5% and 98% for follicular carcinoma (n = 15), and 86% and 100% for Hürthle cell carcinoma (n = 6). Thus, we demonstrate that the diagnostic panel, including the analysis of microRNA expression, mRNA expression, the BRAF mutation, and the mitochondrial-to-nuclear DNA ratio, allows the highly accurate identification of papillary thyroid carcinoma, medullary thyroid carcinoma, and Hürthle cell carcinoma but not malignant follicular tumors (positive predictive value was below 50%).
Journal
|
BRAF (B-raf proto-oncogene)
|
BRAF mutation
over1year
Metastatic Anaplastic Thyroid Carcinoma in Complete Remission: Morphological, Molecular, and Clinical Work-Up of a Rare Case. (PubMed, Endocr Pathol)
The patient is alive and well with no signs of residual disease after 12 months of follow-up. We here summarize the clinical, histological, and molecular data of this highly interesting patient case and review the literature for possible common denominators with other patients with disseminated ATC.
Clinical • Journal • PD(L)-1 Biomarker
|
PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • TERT (Telomerase Reverse Transcriptase)
|
PD-L1 expression • TP53 mutation
over1year
Molecular profile of Hürthle cell carcinomas: recurrent mutations in the Wnt/β-catenin pathway. (PubMed, Eur J Endocrinol)
The recurrent involvement of Wnt/β-catenin pathway, particularly mutations in APC and FAT1, are of particular interest. The data suggest that mutated FAT1 may represent a potential novel driver in HCC tumorigenesis and that the Wnt/β-catenin pathway plays a critical role in this distinct thyroid malignancy.
Retrospective data • Journal
|
BRAF (B-raf proto-oncogene) • FAT1 (FAT atypical cadherin 1)
|
BRAF mutation • MTOR mutation