Home >> Tag Archives: Molecular Pathology Selected Abstracts —

Tag Archives: Molecular Pathology Selected Abstracts —

Molecular pathology selected abstracts

Editors: Donna E. Hansel, MD, PhD, chief, Division of Anatomic Pathology, and professor, Department of Pathology, University of California, San Diego; James Solomon, MD, PhD, resident, Department of Pathology, UCSD; Richard Wong, MD, PhD, molecular pathology fellow, Department of Pathology, UCSD; and Sounak Gupta, MBBS, PhD, molecular pathology fellow, Memorial Sloan Kettering Cancer Center, New York. Development of brain circuits ...

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Molecular pathology selected abstracts

November 2018—Common genetic variants contribute to risk of rare severe neurodevelopmental disorders: The traditional paradigm broadly classifies genetic diseases into rare disorders caused by a single gene variant and common disorders caused by complex interplay among multiple genes. However, recent research has shown that penetrance and disease phenotype, even in disorders thought to be monogenic, are affected by common genetic variation.

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Molecular pathology selected abstracts

Cell-free DNA tumor mutational burden predicts efficacy of immune checkpoint inhibitors October 2018—Immune checkpoint inhibitors have emerged as a potent class of therapy for a variety of malignancies. The biologic rationale for these drugs is that somatic mutations, not necessarily in cancer driver genes, may accumulate in tumor cells, resulting in amino acid changes that create neoantigens (epitopes not present in normal cells during maturation of the immune system).

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Molecular pathology selected abstracts

Ability of genetic alterations to predict development of acute myeloid leukemia
September 2018—Acute myeloid leukemia affects more than 60,000 people in the United States every year and has a mortality rate of more than 90 percent. It is the most common form of acute leukemia and is caused by unchecked growth of immature precursor cells in the bone marrow. These immature cells, or blasts, are myeloid precursors that often develop into dysfunctional, cancerous white blood cells that fill the bone marrow and spread into the blood.

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Molecular Pathology 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 selected abstracts

July 2018—Correlation between tumor mutation burden and efficacy of combination immunotherapy in nonsmall cell lung cancer: Checkpoint inhibitor therapy has dramatically improved outcomes in many cancer types, with treatments including antibodies against cytotoxic T-lymphocyte–associated protein 4 (CTLA-4), programmed cell death receptor-1 (PD-1), and its ligand (PD-L1).

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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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