Publications by authors named "A Ronaghy"

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.
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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.

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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.

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GATA-3 expression in testicular/gynecologic mesothelial neoplasms and benign mesothelia have not been completely investigated. We graded GATA-3, calretinin, and WT1 staining in 20 adenomatoid tumors [9/20 (para)testicular and 11/20 tubal/uterine] and 38 normal mesothelia (20/38 tunica vaginalis and 18/38 fallopian tubes) as either 0 (≤5%), +1 (>5% and <25%), +2 (≥25% and ≤50%), and +3 (>50%). Adenomatoid tumor GATA-3 staining: 2 urologic cases were positive (2/9, +3 and +1), no gynecologic cases were positive (0/11), and all were positive for WT1/calretinin (20/20,+2 to +3).

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