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March 2015

Groups closing the gap in reference materials for sequencing assays

March 2015—It’s a truism in the clinical laboratory that your results are only as good as the reference standards available to QC your assay. For measuring small analytes like glucose that’s not a problem. However, in clinical laboratories the analyte in question increasingly is DNA. In the past five years, next-generation sequencing has been adopted to detect variants in small targeted regions of specific genes, which is useful in oncology and medical genetics. More ambitious applications of NGS—whole genome and whole exome sequencing—have recently begun to enter the clinical realm as well.

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Genetic profiling vies with IHC in retune of CUP testing

March 2015—Tesla beats Camry. Online catalogs replace paper. Keurig edges out Chemex. Mobile trounces landline. When paradigms shift, the theory goes, we can only cling to the technology in the outbox for just so long. But that’s a theory that may not apply to diagnostic testing for cancer of unknown primary (CUP). Microarray-based gene expression profiling (GEP) has recently gained a foothold in the quest to identify origins and therapeutic targets for metastatic cancer, but traditional immunohistochemistry is not about to be sidelined.

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With molecular MPN testing, think positive

March 2015—If molecular tests for myeloproliferative neoplasms ever decide to write their autobiography, they could easily do a riff on the business bestseller Getting to Yes. For myeloproliferative neoplasms, morphologic and clinical findings should guide molecular analysis, which can often be a helpful way to clinch the diagnosis, says Dr. David Czuchlewski (left), of TriCore Reference Laboratories, with Mohammad Vasef, MD, TriCore’s director of molecular diagnostics.

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Paths to validating, using urine sediment analyzers

March 2015—Before Lahey Hospital and Medical Center’s clinical laboratory brought an automated urine sediment analyzer on board last November, it had been doing manual microscopy on positive dipstick specimens only. A review of that practice uncovered problems with quality, including patient misdiagnosis, says Tim Skelton, MD, PhD, medical director of the core laboratory and laboratory informatics at the tertiary care medical center in Burlington, Mass.

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Q&A column, 3/15

Are red blood cell parameters (Hb, MCV, MCH, MCHC, and RDW), especially a normal MCV, a reliable screening tool for ruling out beta thalassemia trait? Is the sickle solubility test reliable in ruling out sickle cell disorder? The absence of coagulation of seminal fluid has been attributed to bilateral congenital absence of the vas deferens and seminal vesicles due to the absence of the coagulation substrate (fibrinogen-like precursor).

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Hear me now? Another audition for speech recognition

March 2015—When Pete Fisher, MD, says his name aloud, the speech-recognition system he uses spits out the words “deep fissure” on the screen. And there are times when he says “note that” and “note fat” pops up instead. Despite the occasional hiccups, he loves the software and the freedom it affords him to do his work without being bound to a transcriptionist’s timetable.

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Anatomic Pathology Selected Abstracts, 3/15

March 2015—Histopathologic spectrum of thecoma of the ovary: a report of 70 cases: The authors evaluated 70 cases of thecoma of the ovary to ascertain their histopathologic spectrum. The tumors occurred over a wide age range (average, 49.6 years). Presentation in the form of pelvic or abdominal pain was uncommon, but postmenopausal bleeding was relatively frequent.

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Clinical Pathology Selected Abstracts, 3/15

March 2015—Chimeric antigen receptor T cells for sustained remissions in leukemia: Relapsed and refractory acute lymphoblastic leukemia is associated with a poor prognosis. T cells genetically modified to express chimeric antigen receptors targeted to cells expressing CD19 (CTL019) are a promising treatment strategy, with complete responses previously reported in two patients who had relapsed and refractory acute lymphoblastic leukemia (ALL).

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