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2018 Issues

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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Letters: Ph-like ALL

November 2018—In the October issue of CAP TODAY, Karen Titus shared with us a story titled, “Fresh incentive to look for Ph-like ALL.” She spoke with key players in the discovery of BCR-ABL1-like B-lymphoblastic leukemia/lymphoma (B-ALL) (or “Ph-like” ALL), which is now a provisional entity in the 2016 revised fourth edition of the WHO. A key takeaway from the article ...

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AMP case report: October 2018 test yourself answers

In the October 2018 issue was a case report (page 70), “NGS in the diagnosis of RASopathies in histologically uninformative skin biopsy samples,” written by members of the Association for Molecular Pathology. Here are answers (in bold) to the three “test yourself ” questions that followed that case report. 1. Which of the following is the most commonly mutated gene in ...

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Fresh incentive to look for Ph-like ALL

October 2018—Cheryl Willman, MD, could hardly believe her eyes. She and her colleagues at the University of New Mexico, working with collaborators from across the U.S. in the NCI TARGET Project, had submitted 100 cases of high-risk pediatric acute lymphoblastic leukemia to British Columbia’s Cancer Agency for RNA sequencing to figure out why patients were doing so poorly, despite treatment with intensive chemotherapy. Now the results were in. Dr. Willman, the Maurice and Marguerite Liberman distinguished chair in cancer research and UNM distinguished professor of pathology, vividly recalls the scene.

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New accreditation program checklist section: Imaging mass spec scores its own quality standards

October 2018—It happened for next-generation sequencing. It was an important step for in vivo microscopy. And now it’s taking place with imaging mass spectrometry. The milestone: development and adoption of a set of specialized checklist requirements for laboratories that want CAP accreditation. Imaging mass spectrometry, an adjunct methodology to help pathologists analyze areas of interest in tissue specimens, is, at this point, used in a small number of research laboratories in the U.S., says CAP Checklists Committee member Christopher M. Lehman, MD, clinical professor of pathology, University of Utah College of Medicine, and medical director of the University of Utah Hospital Laboratory.

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New Color Atlas aids in identifying fungal species

October 2018—CAP Press released in October the Color Atlas of Mycology, by Gordon Love, MD, D(ABMM), and Julie Ribes, MD, PhD. Its 388 pages hold more than 800 tables and images, with identifications verified by DNA sequencing (for images post-2009). Here, in an exchange with CAP TODAY, Dr. Love explains how this atlas stands apart from others in the Color Atlas series and from others on the market.

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Automated molecular platforms: 3 companies on what’s new and next

October 2018—CAP TODAY’s updated guide to the automated molecular platform market begins on page 45. Thirty-four platforms are profiled, with one new one: Hologic’s Panther Fusion. Writer Valerie Neff Newitt talked with three of the 20 companies about what they introduced this year, what’s to come, and more. “This is a dynamic and competitive industry. We are always asked to go faster, and that is what we are trying to do in terms of development,” says Michelle Tabb, PhD, chief scientific officer, DiaSorin Molecular. Others seem to be doing the same.

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