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A new case of severe hemophilia and Moyamoya (SHAM) syndrome

August 2016—CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, and treatment. The following report comes from Columbia University Medical Center. If you would like to submit a case report, please send an email to the AMP at For more information about the AMP and all previously published case reports, visit

For certain thyroid lesions, the shift is on

July 2016—Time was running out for Yuri Nikiforov, MD, PhD, vice chair for molecular pathology and division director of molecular and genomic pathology, University of Pittsburgh Medical Center. For nearly a year he had been working to assemble an international group of experts—pathologists, endocrinologists, a surgeon, and, unusually, a psychiatrist and a patient advocate—to discuss that most vexing of thyroid tumors, encapsulated follicular variant of papillary thyroid carcinoma, or EFVPTC.

Laboratory 2.0: Changing the conversation

July 2016—Bundled payments, physician employment, and unconventional competitors are cannibalizing the volume-based business model that for decades has defined laboratory medicine. And labs have little room within their customary confines—the three percent of health system spending they directly account for—to play a central role in American medicine’s transformation.

Making the best of PD-L1 IHC testing

July 2016—When Keith Kerr, MB ChB, describes the ideal biomarker, he isn’t hesitant about what pathologists and clinicians need. “Ideally, the biomarker would always be correct. It would be easy and practical to measure. It would either be present or absent, with no gray zone or doubt.

In C. diff and cardiac care, lab steps up decision support

July 2016—What’s the one way to win friends and influence people? If you’re Eugenio H. Zabaleta, PhD, the answer is simple: Reduce the number of stool samples nurses have to collect. A few years ago, Dr. Zabaleta, clinical chemist at OhioHealth Mans-field Hospital, introduced a clinical testing algorithm for C. difficile that cut the number of stool samples by almost 50 percent. “And the nurses are loooving me for it,” he says happily. “The joke is, when nursing and lab work together, there is literally less crap for everybody.”

A rare case of Diamond Blackfan anemia: identifying the causative mutation using NGS

July 2016—Diamond Blackfan anemia is a rare, inherited bone marrow failure syndrome manifesting as marked red cell aplasia and variable congenital anomalies. We report here a case of Diamond Blackfan anemia, which underscores the role of an integrated diagnostic workflow including hematopathologic evaluation and next-generation sequencing for establishing the diagnosis and potential management of rare, inherited bone marrow failure syndromes.

In praise of the path less traveled: public health labs

July 2016—For those who crave variety in their work and have a penchant for the unusual, Paul Bachner, MD, has a career message: Don’t overlook public health. As medical director of the Division of Laboratory Services for Kentucky’s public health department from 2013 to July 2015, Dr. Bachner expected the unexpected, whether it was an outbreak of food contamination, a suspected case of Ebola, or a newborn with a life-threatening metabolic disorder.

Poisoning, overdose: Better technology, workflow improve patient odds

July 2016—As pronouncements by fictional detectives go, one of the most famous is Sherlock Holmes’ declaration to Dr. Watson: “When you have excluded the impossible, whatever remains, however improbable, must be the truth.” Unfortunately, Holmes’ advice is no practical rule of thumb for solving the real-world mysteries of patient poisoning or overdose, because the possibilities are often so vast.

Clampdowns on out-of-network billing climb

June 2016—To the average reader, “out-of-network billing” might seem like a technical concept that should mainly concern hyperaware insurance wonks. Media outlets from NBC News to Time to the Huffington Post have found that phrases like “surprise medical bill,” “angry patients,” and sometimes “sticker shock” in recent stories are much more likely to grab attention.

Glucose PT criteria reset stirs standards debate

June 2016—It may not be an exact science, but resetting standards is a long-established means of improving quality of testing, and it can also be a way of adapting to improvements in quality that have already been realized. In the case of the CAP’s recent tightening of proficiency testing criteria for hospital glucose testing, both purposes are at work.