Overexpression of the proneural transcription factor ASCL1 in chronic lymphocytic leukemia with a t(12;14)(q23.2;q32.3)

Malli, Theodora; Rammer, Melanie; Haslinger, Sabrina; Burghofer, Jonathan; Burgstaller, Sonja; Boesmueller, Hans-Christian; Marschon, Renate; Kranewitter, Wolfgang; Erdel, Martin; Deutschbauer, Sabine; Webersinke, Gerald

doi:10.1186/s13039-018-0355-7

Cited by 3 publications

(1 citation statement)

References 47 publications

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“…In addition, a case study reported nuclear translocation t(12; 14) (q23.2; Q32.3) may make ASCL bind to INSM1 enhancer, upregulating INSM1 expression in chronic lymphocytic leukemia. This also leads us to explore the possibility of “reexpression” of INSM1 in blood diseases [ 27 ].…”

Section: Introductionmentioning

confidence: 99%

INSM1 Expression in Mesenchymal Tumors and Its Clinicopathological Significance

Zhang

Dong

Zhou

et al. 2022

BioMed Research International

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Background. Insulinoma-associated protein 1 (INSM1) has been identified as a nuclear marker of neuroendocrine tumors. Although INSM1 appears to be a subtle and specific biomarker for neuroendocrine tumor, its expression and clinicopathological significance in mesenchymal tumors remain unclear. Methods. We analyzed INSM1 mRNA level in GEO database and conducted immunohistological staining to detect the expression of INSM1 on 576 mesenchymal tumors from pathology department of Tongji Hospital. Results. At transcription level, INSM1 expression in AITL (angioimmunoblastic T-cell lymphoma) was higher than their adjacent normal tissues as well as Hodgkin’s lymphoma. Moreover, INSM1 expression in well-differentiated liposarcoma (WDLPS) was significantly higher than normal fat ( P = 0.014 ) and dedifferentiated liposarcoma (DDLPS) ( P = 0.0248 ). At protein level, the positive rate of INSM1 in AITL was 18/48 (47.4%), while in DDLPS was 9/20 (45%). INSM1 expression in AITL was significantly higher than Hodgkin’s lymphoma ( P = 0.008 ). And INSM1 expression in WDLPS was significantly lower than DDLPS ( P = 0.015 ). Conclusion. The combination of GEO data and immunohistochemistry data indicated that the expression level of INSM1 was higher in AITL compared with normal control, suggesting that INSM1 may be involved in pathogenesis of AITL. The abnormal expression of INSM1 was found in WDLPS, and the positive rate of INSM1 was higher in DDLPS than in WDLPS. INSM1 may be involved in the regulation of liposarcoma development. There were significant differences in the expression of INSM1 between AITL and Hodgkin’s lymphoma and WDLPS and DDLPS. These findings may assist in the differential diagnosis of these tumors when common markers are difficult to identify, enriching the diagnostic index system of mesenchymal tumors.

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Section: Introductionmentioning

confidence: 99%

INSM1 Expression in Mesenchymal Tumors and Its Clinicopathological Significance

Zhang

Dong

Zhou

et al. 2022

BioMed Research International

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INSM1 expression in a subset of thoracic malignancies and small round cell tumors: rare potential pitfalls for small cell carcinoma

2020

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INSM1 Is More Sensitive and Interpretable than Conventional Immunohistochemical Stains Used to Diagnose Merkel Cell Carcinoma

Lilo

Chen

LeBlanc

2018

American Journal of Surgical Pathology

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Merkel cell carcinoma (MCC) is an extremely aggressive skin cancer that must be distinguished from other basaloid cutaneous neoplasms that have different treatments and prognoses. This is sometimes challenging in small shave specimens, crushed samples, lymph nodes, and core needle biopsies. Insulinoma-associated protein 1 (INSM1) immunohistochemistry is a sensitive nuclear marker of neuroendocrine differentiation. INSM1 staining was performed on 56 MCC (47 primary tumors, 9 nodal metastases), 50 skin control cases that included basal cell carcinomas, basaloid squamous cell carcinomas, Bowen disease, sebaceous neoplasms, melanoma, and B-cell lymphomas, and 28 lymph node control cases that included metastatic neuroendocrine neoplasms, melanomas, squamous cell carcinomas, lymphomas, and adenocarcinomas. Percent of staining nuclei (0,<25%, 25% to 50%, 50% to 75%, >75%) and intensity (weak, moderate, strong) were recorded for each sample. All 56 MCC expressed INSM1. By comparison, synaptophysin, CK20, and chromogranin were expressed in 96%, 92%, and 32% of MCC, respectively. While the 3 conventional markers showed significant variability in staining intensity and distribution, INSM1 stained >75% tumor nuclei in 89% of MCC and 50% to 75% of tumor nuclei in 11%. Staining intensity was strong in 85% and moderate in 15%. None of the 50 cutaneous basaloid non-MCC neoplasms in the control group stained with INSM1, and among the lymph node controls 5 of 5 neuroendocrine neoplasms expressed INSM1, confirming that INSM1 staining cannot distinguish MCC from metastatic extracutaneous neuroendocrine carcinoma. INSM1 holds promise as a neuroendocrine marker that can distinguish MCC from its mimickers in the skin and improve detection of sentinel lymph node metastases.

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Overexpression of the proneural transcription factor ASCL1 in chronic lymphocytic leukemia with a t(12;14)(q23.2;q32.3)

Cited by 3 publications

References 47 publications

INSM1 Expression in Mesenchymal Tumors and Its Clinicopathological Significance

INSM1 Expression in Mesenchymal Tumors and Its Clinicopathological Significance

INSM1 expression in a subset of thoracic malignancies and small round cell tumors: rare potential pitfalls for small cell carcinoma

INSM1 Is More Sensitive and Interpretable than Conventional Immunohistochemical Stains Used to Diagnose Merkel Cell Carcinoma

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