Loss of Integrase Interactor 1 (INI1) Expression in a Subset of Differentiated Thyroid Cancer

Ho, Kung-Chen; Lee, Jie-Jen; Lin, Chin-Ho; Leung, Ching-Hsiang; Cheng, Shih‐Ping

doi:10.3390/diagnostics10050280

Cited by 3 publications

(3 citation statements)

References 38 publications

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“…Persistent or recurrent disease is frequent in advanced thyroid cancer, which often acquires unresponsiveness or is inherently insensitive to radioactive iodine therapy. A number of genetic alterations have been characterised in aggressive cases, such as a higher frequency of mutations of TP53, TERT promoter, PI3K-AKT pathway effectors, SWI/SNF subunits, and histone methyltransferases [2][3][4].…”

Section: Introductionmentioning

confidence: 99%

Overexpression of chitinase‐3‐like protein 1 is associated with structural recurrence in patients with differentiated thyroid cancer

Cheng

Lee

Chang

et al. 2020

The Journal of Pathology

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We previously identified that the expression of chitinase‐3‐like protein 1 (CHI3L1) was upregulated during thyroid cancer progression. Here, we investigated the prognostic significance of CHI3L1 expression in thyroid neoplasms and examined the potential oncogenic roles. CHI3L1 immunochemical staining was performed on tissue microarrays of benign and malignant thyroid tumours. Compared with normal thyroid tissue and benign thyroid lesions that had low or no detectable CHI3L1 expression, CHI3L1 was overexpressed in both differentiated and undifferentiated thyroid cancer. High CHI3L1 expression was associated with extrathyroidal extension, lymph node metastasis, and shorter recurrence‐free survival in differentiated thyroid cancer. The biological roles of CHI3L1 were further investigated by gain‐ and loss‐of‐function assays. CHI3L1 silencing suppressed clonogenicity, migration, invasion, anoikis resistance, and angiogenesis in thyroid cancer cells, although exogenous CHI3L1 treatment promoted these malignant phenotypes. Cysteine‐rich angiogenic inducer 61 (CYR61) was identified as a downstream target of CHI3L1 by RNA‐seq analysis. CYR61 silencing or treatment reversed the alterations induced by CHI3L1 modulation. Our results demonstrate that CHI3L1 is overexpressed in thyroid cancer and is associated with an increased risk of disease recurrence. Additionally, CYR61 may participate in CHI3L1‐mediated tumour progression. © 2020 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

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Section: Introductionmentioning

confidence: 99%

Overexpression of chitinase‐3‐like protein 1 is associated with structural recurrence in patients with differentiated thyroid cancer

Cheng

Lee

Chang

et al. 2020

The Journal of Pathology

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“…Others reported similar findings in smaller cohorts [7,14]. A recent study described INI1 loss in 12% of differentiated thyroid carcinoma [15]. These authors considered weak nuclear labeling to be loss of expression.…”

Section: Discussionmentioning

confidence: 53%

INI1-Deficient Thyroid Carcinoma is an Aggressive Disease with Epithelioid and Rhabdoid Phenotype. A Case Report, Survey of INI1 Expression in Thyroid Lesions and Literature Review

Seshadri

Gupta

et al. 2021

Head and Neck Pathol

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Integrase interactor 1 (INI1)-deficient carcinomas, recently described in several sites including the head and neck, are associated with basaloid or rhabdoid histology and aggressive behavior irrespective of origin. INI1-deficient thyroid carcinoma is extremely rare. We present here the phenotype and genotype of an INI1-deficient thyroid carcinoma and report on the INI1 protein expression in various thyroid lesions. Case report with clinicopathologic and molecular characterization and INI1 assessment in 184 thyroid lesions. A 67-year-old woman presented with globus sensation due to a large thyroid mass with extrathyroid extension, focal necrosis and cervical and mediastinal nodal involvement. Histologically, tumor cells had a solid, alveolar and pseudopapillary architecture in a myxoid stroma, exhibited monomorphic epithelioid and focal rhabdoid/plasmacytoid morphology and lacked glandular, squamous or follicular cell differentiation. Tumor cells were positive for AE1/AE3 and CK18 but negative for TTF1, thyroglobulin and PAX8. INI1 nuclear expression was absent. A frameshift SMARCB1/ INI1 mutation was detected. In addition, TET2 and Notch1 mutations were present but alterations of BRAF, RET, PAX8/ PPAR8 or RAS were not identified. Patient death occurred 14 months after diagnosis from post-therapeutic complications. None of the 184 benign and malignant thyroid lesions tested, including 12 poorly and undifferentiated thyroid carcinomas, were INI1-deficient. INI1-deficient thyroid carcinoma shares the phenotype, genotype and biology of other INI1-deficient tumors. Epithelioid and plasmacytoid/rhabdoid changes are most frequent whereas basaloid morphology is not reported, in contrast with sinonasal tumors. Poorly differentiated and undifferentiated thyroid tumors with epithelioid or rhabdoid morphology should be tested for INI1 protein expression to better characterize these aggressive neoplasms and identify patients eligible for targeted therapy.

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“…Typically, RT cells were positive for epithelial markers and negative for muscle-derived markers, which is the exact opposite of the tumor of RMS (13,15). Notably, the absence of the INI1 protein expression often used by pathologists to diagnose malignant rhabdoid tumors (16,17). The WHO did not recommend using INI1 or a rare Brahma-related gene-1 (BRG1) mutation to diagnose AT/RT until 2016, and other types of RT are still waiting for clear regulations to adopt this method of diagnosis (18).…”

Section: Discussionmentioning

confidence: 99%

CT and MR imaging features of soft tissue rhabdoid tumor: compared with rhabdomyosarcoma in children

Sheng

Zhang

et al. 2023

Front. Pediatr.

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ObjectiveTo assess the computed tomography (CT) and magnetic resonance (MR) imaging characteristics of soft tissue rhabdoid tumors (RT) and compare them with those of rhabdomyosarcoma (RMS).MethodsWe conducted a retrospective analysis of 49 pediatric patients from 2011 to 2022, comprising 16 patients with soft tissue RT and 33 patients with RMS who underwent CT or MRI scans. Key imaging features, as well as clinical and pathological data, were compared between the two groups. The multivariate logistic regression analysis was used to determine independent differential factors for distinguishing soft tissue RT from RMS, and the model was established. The final prediction model was visualized by nomograms and verified internally by using a bootstrapped resample 1,000 times. The diagnostic accuracy of the combined model was assessed in terms of discrimination, calibration, and clinical utility.ResultsAge, sex, number of lesions, and primary locations were similar in both groups. The imaging characteristics, including margin, calcification, surrounding blood vessels, and rim enhancement, were associated with the two groups of soft tissue tumors, as determined by univariate analysis (all p < 0.05). On multivariate logistic regression analysis, the presence of unclear margin (p-value, adjusted odds ratio [95% confidence interval]: 0.03, 7.96 [1.23, 51.67]) and calcification (0.012, 30.37 [2.09, 440.70]) were independent differential factors for predicting soft tissue RT over RMS. The presence of rim enhancement (0.007, 0.05 [0.01, 0.43]) was an independent differential factor for predicting RMS over soft tissue RT. The comprehensive model established by logistic regression analysis showed an AUC of 0.872 with 81.8% specificity and 81.3% sensitivity. The decision curve analysis (DCA) curve displayed that the model achieved a better net clinical benefit.ConclusionOur study revealed that the image features of calcification, indistinct margins, and a lack of rim enhancement on CT and MRI might be reliable to distinguish soft tissue RT from RMS.

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Loss of Integrase Interactor 1 (INI1) Expression in a Subset of Differentiated Thyroid Cancer

Cited by 3 publications

References 38 publications

Overexpression of chitinase‐3‐like protein 1 is associated with structural recurrence in patients with differentiated thyroid cancer

Overexpression of chitinase‐3‐like protein 1 is associated with structural recurrence in patients with differentiated thyroid cancer

INI1-Deficient Thyroid Carcinoma is an Aggressive Disease with Epithelioid and Rhabdoid Phenotype. A Case Report, Survey of INI1 Expression in Thyroid Lesions and Literature Review

CT and MR imaging features of soft tissue rhabdoid tumor: compared with rhabdomyosarcoma in children

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