Publications by authors named "Ashwin Koppayi"
Background: Adenoid cystic carcinoma (ACC) is a rare glandular malignancy, commonly originating in salivary glands of the head and neck. Given its protracted growth, ACC is usually diagnosed in advanced stage. Treatment of ACC is limited to surgery and/or adjuvant radiotherapy, which often fails to prevent disease recurrence, and no FDA-approved targeted therapies are currently available.
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- The genomics era has led to the identification of the ERG gene as a new autosomal dominant predisposition factor for bone marrow failure (BMF) and hematological malignancies (HM), crucial for blood cell development and function.
- Research found several rare ERG variants associated with thrombocytopenia and various forms of HM, showing onset typically before age 40.
- Functional studies indicated that many ERG variants disrupt its role as a transcription factor, leading to ineffective blood cell production, with implications for clinical diagnosis and treatment strategies for affected patients and families.
Purpose: To identify likely germline DNA variants from sequential tumor profiling data from hematopoietic malignancies (HMs).
Methods: The coefficient of variance was calculated from variant allele frequency of next-generation sequencing assays. Variants' likelihood of being germline was ranked on a 1 to 5 scale.
Article Synopsis
- * Patients with these variants were more likely to experience higher-grade MDS, indicating a potential link between germ line variants and disease severity.
- * The authors suggest that comprehensive genetic testing for P/LP germ line variants should be conducted for all MDS patients, irrespective of age, to better understand the implications of these variants on patient outcomes.