Inherited causes of exocrine pancreatic insufficiency in pediatric patients: clinical presentation and laboratory testing.

Pediatric patients with exocrine pancreatic insufficiency (EPI) have symptoms that include abdominal pain, weight loss or poor weight gain, malnutrition, and steatorrhea. This condition can be present at birth or develop during childhood for certain genetic disorders. Cystic fibrosis (CF) is the most prevalent disorder in which patients are screened for EPI; other disorders also are associated with pancreatic dysfunction, such as hereditary pancreatitis, Pearson syndrome, and Shwachman-Diamond syndrome.

Rapid On Site Evaluation (ROSE): A Pathologists' Perspective.

Rapid on site evaluation (ROSE) has been recognized as a safeguard to help ensure adequate aspirate or biopsy sample is present for diagnostic evaluation. The method involves having a pathologist (generally a cytopathologist) on site during specimen collection to allow for feedback for the performing proceduralist. ROSE can allow for appropriate ancillary tests to be collected at the time of biopsy (eg, flow cytometry or cultures), fewer passes in the event of adequate lesional representation on initial pass(es), or adjusting the biopsy target.

Axillary lymph node metastasis: Fine-needle aspiration biopsy sensitivity as a function of node size, percent replacement of lymph node by tumor and tumor deposit size.

Background: Fine-needle aspiration (FNA) is commonly used to investigate lymphadenopathy of suspected metastatic origin. While diagnostic accuracy of FNA for lymph node disease is well described, the relationship between node size, percent tumor replacement, and size of metastatic deposit with diagnostic accuracy is less well documented.

Methods: All axillary lymph nodes undergoing ultrasound-guided FNA for suspected breast metastases were correlated with subsequent surgical excision specimens.

Chronic myeloid neoplasms harboring concomitant mutations in myeloproliferative neoplasm driver genes (JAK2/MPL/CALR) and SF3B1.

JAK2, CALR, and MPL are myeloproliferative neoplasm (MPN)-driver mutations, whereas SF3B1 is strongly associated with ring sideroblasts (RS) in myelodysplastic syndrome (MDS). Concomitant mutations of SF3B1 and MPN-driver mutations out of the context of MDS/MPN with RS and thrombocytosis (MDS/MPN-RS-T) are not well-studied. From the cases (<5% blasts) tested by NGS panels interrogating at least 42 myeloid neoplasm-related genes, we identified 18 MDS/MPN-RS-T, 42 MPN, 10 MDS, and 6 MDS/MPN-U cases with an SF3B1 and an MPN-driver mutation.

Antinuclear Antibodies Testing Method Variability: A Survey of Participants in the College of American Pathologists' Proficiency Testing Program.

Objective: This study was conducted to determine the spectrum of laboratory practices in antinuclear antibody (ANA) test target, performance, and result reporting.

Methods: A questionnaire on ANA testing was distributed by the Diagnostic Immunology and Flow Cytometry Committee of the College of American Pathologists (CAP) to laboratories participating in the 2016 CAP ANA proficiency survey.

Results: Of 5847 survey kits distributed, 1206 (21%) responded.

Protein C Deficiency.

Protein C (PC) deficiency is a heritable or acquired risk factor for thrombophilia, with presentations varying from asymptomatic to venous thromboembolism to neonatal purpura fulminans, a life-threatening disorder. Hereditary PC deficiency is caused by mutation in the PC () gene located on chromosome 2q14.3.

Quantitative Image Analysis of Human Epidermal Growth Factor Receptor 2 Immunohistochemistry for Breast Cancer: Guideline From the College of American Pathologists.

Context.—: Advancements in genomic, computing, and imaging technology have spurred new opportunities to use quantitative image analysis (QIA) for diagnostic testing.

Objective.

Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.

Pyruvate kinase deficiency (PKD) is the most common enzyme defect of glycolysis and an important cause of hereditary, nonspherocytic hemolytic anemia. The disease has a worldwide geographical distribution but there are no verified data regarding its frequency. Difficulties in the diagnostic workflow and interpretation of PK enzyme assay likely play a role.

Treatment outcomes and HPV characteristics for an institutional cohort of patients with anal cancer receiving concurrent chemotherapy and intensity-modulated radiation therapy.

Background: Intensity-modulated radiation therapy (IMRT) has been used to limit treatment-related toxicity for patients with anal squamous cell carcinoma (SCC). The treatment outcomes and HPV characteristics for a cohort of patients receiving definitive concurrent chemotherapy and IMRT are reported.

Materials And Methods: 52 patients with anal SCC were treated with IMRT and concurrent chemotherapy.

Effect of treatment dose reductions in the setting of hand-foot syndrome on survival outcomes in patients with metastatic renal cell carcinoma treated with vascular endothelial growth factor receptor inhibitors.

Purpose Hand-foot syndrome is a common dose limiting toxicity of vascular endothelial growth factor receptor tyrosine kinase inhibitors used for treatment of patients with metastatic renal cell carcinoma. The effect of treatment dose reductions, in the context of hand-foot syndrome, on survival outcomes is reported. Methods This was a retrospective case series of patients receiving vascular endothelial growth factor receptor tyrosine kinase inhibitors from 1 January 2004 to 31 October 2013.

Prostate cancer risk regions at 8q24 and 17q24 are differentially associated with somatic TMPRSS2:ERG fusion status.

Molecular and epidemiological differences have been described between TMPRSS2:ERG fusion-positive and fusion-negative prostate cancer (PrCa). Assuming two molecularly distinct subtypes, we have examined 27 common PrCa risk variants, previously identified in genome-wide association studies, for subtype specific associations in a total of 1221 TMPRSS2:ERG phenotyped PrCa cases. In meta-analyses of a discovery set of 552 cases with TMPRSS2:ERG data and 7650 unaffected men from five centers we have found support for the hypothesis that several common risk variants are associated with one particular subtype rather than with PrCa in general.

Opportunities to Enhance Laboratory Professionals' Role On the Diagnostic Team.

Background: The 2015 Institue of Medicine report Improving Diagnosis in Health Care highlighted that diagnostic errors cause patient harm and that improvement in the diagnostic process requires better collaboration among physicians and laboratory professionals. The purpose of this study is to understand why physicians do not contact laboratory professionals when facing diagnostic challenges and identify opportunities for laboratory professionals to become more recognized members of the clinical care team.

Methods: A random sample of 31,689 physicians from the American Medical Association Masterfile were surveyed about diagnostic challenges in laboratory test ordering and results interpretation, solutions to these challenges, and interactions with laboratory professionals.

Maintaining Life-saving Testing for Patients With Infectious Diseases: Infectious Diseases Society of America, American Society for Microbiology, and Pan American Society for Clinical Virology Recommendations on the Regulation of Laboratory-developed Tests.

In 2014, the US Food and Drug Administration (FDA) proposed to regulate laboratory-developed tests (LDTs)-diagnostics designed, manufactured, and used within a single laboratory. The Infectious Diseases Society of America, the American Society for Microbiology, and the Pan American Society for Clinical Virology recognize that the FDA is committed to protecting patients. However, our societies are concerned that the proposed regulations will limit access to testing and negatively impact infectious diseases (ID) LDTs.

Therapy Effect: Impact on Bone Marrow Morphology.

This article highlights the most common morphologic features identified in the bone marrow after chemotherapy for hematologic malignancies, growth-stimulating agents, and specific targeted therapies. The key is to be aware of these changes while reviewing post-therapeutic bone marrow biopsies and to not mistake reactive patterns for neoplastic processes. In addition, given the development and prevalent use of targeted therapy, such as tyrosine kinase inhibitors and immune modulators, knowledge of drug-specific morphologic changes is required for proper bone marrow interpretation and diagnosis.

Revisiting the Roles of Culture and Culture-Independent Detection Tests for Campylobacter.

Culture-independent detection tests (CIDTs) for Campylobacter have become an area of intense controversy and confusion among laboratorians in the field of clinical microbiology. To date, the true analytical and clinical performance of stool antigen CIDTs versus truly optimized culture conditions is unknown. In this issue of the Journal of Clinical Microbiology, Fitzgerald and colleagues (C.

Intrinsic factor blocking antibody interference is not detected in five automated cobalamin immunoassays.

Objectives: To systematically assess five automated cobalamin assays for intrinsic factor binding antibody (IFBA)-induced interference using pooled serum.

Methods: Six pools created from IFBA-negative and IFBA-positive serum representing low, normal, and high cobalamin concentrations were analyzed before and after polyethylene glycol (PEG) precipitation of immunoglobulins on five cobalamin assays: the Centaur XP (Siemens Healthcare Diagnostics, Tarrytown, NY), IMMULITE 2000 (Siemens Healthcare Diagnostics), ARCHITECT i2000SR (Abbott Diagnostics, Abbott Park, IL), UniCel Dxl 800 (Beckman Coulter, Chaska, MN), and Modular E170 (Roche Diagnostics, Indianapolis, IN).

Results: Cobalamin concentrations before and after PEG treatment were similar, almost all within a 30% total allowable error, with no difference in pattern between the IFBA-negative and IFBA-positive pools regardless of the cobalamin concentration.

Giant cell tumor of bone presenting in the lumbar spine of a 35-year-old female: cytodiagnosis and other diagnostic considerations.

Fine-needle aspiration (FNA) is commonly used in the evaluation of both primary and metastatic bone lesions. Giant cell tumor (GCT) of bone is one of the primary bone neoplasms that can be diagnosed with good success on FNA as its cytologic features are relatively reproducible. However, this entity classically involves the ends (or epiphyses) of the longs bones making an FNA diagnosis of a GCT of bone in other anatomic locations is challenging and requires the consideration of a differential diagnosis.