Category: Molecular pathology
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Tumors characterized by loss of SMARCB1/INI1
SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) is a Protein Coding gene. Tumors associated with SMARCB1 can be due to it’s complete loss, mosaic expression and reduced expression. *TUMORS ASSOCIATED WITH COMPLETE LOSS OF SMARCB1 *TUMORS ASSOCIATED WITH MOSAIC EXPRESSION OF SMARCB1 *REDUCED EXPRESSION OF SMARCB1GROUP TUMORS ASSOCIATED […]
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Molecular pathology of ADIPOCYTIC TUMORS
Molecular pathology of ADIPOCYTIC TUMORS – based on WHO 2020 Soft tissue and bone tumors. LIPOMAS The pathogenesis of lipomas is related to reactivated expression of the HMGA2 protein, which plays a role in the development of the mesodermal lineage during embryogenesis ANGIOLIPOMA– The majority (80%) have been reported to have low-frequency PRKD2 mutations. CHONDROID […]
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Conditions associated with DICER- 1 syndrome
Syndromes associated with DICER-1 syndrome
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Molecular pathogenesis of ovarian epithelial tumors.
Molecular progression of serous ovarian tumor. Borderline low and high grade 1.Molecular progression of low grade ovarian serous tumors. There is data to suggest progression from serous cystadenoma / cystadenofibroma with BRAF / KRAS mutations → SBT (serous borderline tumor) → LGSC (Low grade serous carcinoma) ; however, this is still controversial 2. Molecular progression of high […]
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Tumors showing TRK (tropomyosin receptor kinase) gene fusion
Recent molecular studies have revealed that, several tumors harbor TRK fusion. However fusion frequencies vary. Several NTRK1/2/3 (neurotrophic tyrosine receptor kinase) fusions have been reported. It is important to identify them since they serve as potential targets for therapy The NTRK1, 2, and 3 genes encode a family of tyrosine kinase receptors with an active […]