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Tag Archives: Molecular Pathology Abstracts —

Molecular pathology selected abstracts

Prevalence of clonal hematopoiesis mutations in tumor-only clinical genomic profiling of solid tumors
August 2018—Challenges to implementing next-generation sequencing-based comprehensive molecular profiling of solid tumors include reliably separating germline variants from somatic variants. This is an important consideration, particularly when a “tumor-only” profiling approach is used.

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Molecular Pathology Abstracts, 5/18

May 2018—DNA methylation-based testing to classify central nervous system tumors: Despite being the mainstay of pathology tissue diagnostics, microscope-based histological review has limitations. Among them is that pathologists may have differing opinions about a case. This interobserver variability may result in over- or undertreatment of the patient and lack of agreement about which diagnosis is correct.

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Molecular Pathology Abstracts

April 2018—Effect of inherited TP53 mutations on children with B-cell ALL: TP53 has been referred to as the “guardian of the genome” because it plays a central role in regulation of the cell cycle, DNA repair, and apoptosis, and because somatic mutations in TP53 are frequently identified in many tumor types.

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Molecular Pathology Abstracts, 3/18

March 2018—Nonendoscopic detection of Barrett’s esophagus using DNA methylation biomarkers: Esophageal adenocarcinoma is an aggressive disease, with a less than 20 percent five-year survival rate, and its incidence is rapidly increasing. Early detection of esophageal adenocarcinoma or its precursor lesion, Barrett’s esophagus, would enable more effective treatment strategies and a greater chance of cure.

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Molecular Pathology Abstracts, 2/18

February 2018—Gene expression and risk of leukemic transformation in myelodysplasia: The myelodysplastic syndromes represent a group of clonal hematopoietic disorders with varying prognoses, with survival ranging from a few months to more than 10 years. Multiple laboratory measurements have been used in attempts to provide reliable prognostic assessments, including bone marrow blast counts, severity of peripheral cytopenia, cytogenetic findings, and, most recently, gene-mutation profiling.

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Molecular Pathology Abstracts, 1/18

January 2018—Importance of interstitial genes that exist between gene fusion partners in prostate cancer: Prostate cancer is one of the most common cancers affecting men, yet understanding of the disease’s development and progression is limited. One of the most effective ways to stratify treatment and outcomes is based on pathology review of prostate biopsies, though the application of molecular testing to these samples is increasing.

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Molecular Pathology Abstracts, 12/17

December 2017—Refining subgroups of pediatric gliomas using molecular markers: Pediatric high-grade and diffuse intrinsic pontine gliomas are a rare and heterogeneous group of tumors that show diverse histology, location, and prognosis. Although little was known regarding the development of these tumors, recent genomic studies have begun to elucidate their biological underpinnings. The authors conducted a study to further understanding of such gliomas by breaking them into subgroups.

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