Publications by authors named "A Ronaghy"
Background: We report the BRAF p.V600E (BRAF V600E) mutations, high tumor mutational burden (TMB-H), and RET fusions frequency/outcomes with genomically matched therapies (GMTs). To raise awareness about GMTs providing data from a real-world scenario, the KISMET project was created.
View Article and Find Full Text PDFChronic lymphocytic leukemia (CLL) is the most common type of adult leukemia, particularly in Western countries. CLL can present indolently or aggressively, influenced by various factors, including chromosomal alterations. Fluorescent in situ hybridization (FISH), targeting specific genes/loci frequently affected in CLL patients, has established a standard for stratifying five CLL prognostic groups: del(11q)/, trisomy 12, del(13q) as a sole aberration, del(17p)/, and normal CLL FISH panel results.
View Article and Find Full Text PDFGenomic Alterations in DNA Mismatch Repair Genes Across Different Cancer Types.
JCO Precis Oncol
November 2024
Article Synopsis
- PD-1 inhibition shows effectiveness in treating patients with mismatch repair deficient (dMMR) solid tumors; however, routine testing for dMMR using immunohistochemistry (IHC) is not common across different tumor types.
- A study involving over 15,000 solid tumor patients demonstrated that next-generation sequencing (NGS) can help identify mutations in MMR genes, revealing a correlation with IHC results in those tested.
- The findings indicate that patients with MMR mutations showed a significant rate of dMMR, highlighting the potential benefits of employing IHC testing on patients with identified MMR mutations to optimize treatment options.
Sporadic reports of t(3;12)(q26.2;p13) indicate that this abnormality is associated with myeloid neoplasms, myelodysplasia, and a poor prognosis. To better characterize neoplasms with this abnormality, we assessed 20 patients utilizing clinicopathological data, cytogenetic, and targeted next-generation sequencing analysis.
View Article and Find Full Text PDFClinical Applications of Chromosomal Microarray Testing in Myeloid Malignancies.
Curr Hematol Malig Rep
June 2020
Purpose Of Review: Knowledge of both somatic mutations and copy number aberrations are important for the understanding of cancer pathogenesis and management of myeloid neoplasms. The currently available standard of care technologies for copy number assessment such as conventional karyotype and FISH are either limited by low resolution or restriction to targeted assessment.
Recent Findings: Chromosomal microarray (CMA) is effective in characterization of chromosomal and gene aberrations of diagnostic, prognostic, and therapeutic significance at a higher resolution than conventional karyotyping.