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March 2018

What's to Be Done About Laboratory Quality? Process Indicators, Laboratory Stewardship, the Outcomes Problem, Risk Assessment, and Economic Value: Responding to Contemporary Global Challenges. Meier FA, Badrick TC, Sikaris KA. Am J Clin Pathol. 2018 Feb 17;149(3):186-196. doi: 10.1093/ajcp/aqx135. PMID: 29471323

Systematic Review of Non-ASCP Choosing Wisely Recommendations Relevant to Pathology and Laboratory Medicine. Waibel E, Garcia E, Kelly M, Soles R, Hilborne L. Am J Clin Pathol. 2018 Feb 17;149(3):267-274. doi: 10.1093/ajcp/aqx159. PMID: 29425260

Derivation of Outcome-Based Pediatric Critical Values. Du H, Markus C, Metz M, Feng M, Loh TP. Am J Clin Pathol. 2018 Mar 7;149(4):324-331. doi: 10.1093/ajcp/aqx165. PMID: 29474506

Daily Biopsy Diagnosis in Surgical Pathology: Concordance Between Light Microscopy and Whole-Slide Imaging in Real-Life Conditions. Villa I, Mathieu MC, Bosq J, et al. Am J Clin Pathol. 2018 Mar 7;149(4):344-351. doi: 10.1093/ajcp/aqx161. PMID: 29452345

Hinged Lids and Fatal Head Entrapment in Early Childhood. Byard RW, Cala AD. Am J Forensic Med Pathol. 2018 Mar;39(1):85-86. doi: 10.1097/PAF.0000000000000368. PMID: 29194055

Whole-Genome-Sequence-Based Haplotypes Reveal Single Origin of the Sickle Allele during the Holocene Wet Phase. Shriner D, Rotimi CN. Am J Hum Genet. 2018 Apr 5;102(4):547-556. doi: 10.1016/j.ajhg.2018.02.003. Epub 2018 Mar 8. PMID: 29526279

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood. Vögtle FN, Brändl B, Larson A, et al. Am J Hum Genet. 2018 Apr 5;102(4):557-573. doi: 10.1016/j.ajhg.2018.02.014. Epub 2018 Mar 22. PMID: 29576218

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome. Blackburn PR, Xu Z, Tumelty KE, et al. Am J Hum Genet. 2018 Apr 5;102(4):696-705. doi: 10.1016/j.ajhg.2018.02.018. Epub 2018 Mar 29. PMID: 29606302

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility. Esteve C, Francescatto L, Tan PL, et al. Am J Hum Genet. 2018 Mar 1;102(3):364-374. doi: 10.1016/j.ajhg.2018.01.009. Epub 2018 Feb 8. PMID: 29429573

A Shared Pattern of β-Catenin Activation in Bronchopulmonary Dysplasia and Idiopathic Pulmonary Fibrosis. Sucre JMS, Deutsch GH, Jetter CS, et al. Am J Pathol. 2018 Apr;188(4):853-862. doi: 10.1016/j.ajpath.2017.12.004. Epub 2018 Jan 31. PMID: 29355514

Pancreatic and Islet Remodeling in Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Knockout Ferrets. Rotti PG, Xie W, Poudel A, et al. Am J Pathol. 2018 Apr;188(4):876-890. doi: 10.1016/j.ajpath.2017.12.015. Epub 2018 Jan 31. PMID: 29366680

Fibrosis in Preeclamptic Placentas Is Associated with Stromal Fibroblasts Activated by the Transforming Growth Factor-β1 Signaling Pathway. Ohmaru-Nakanishi T, Asanoma K, Fujikawa M, et al. Am J Pathol. 2018 Mar;188(3):683-695. doi: 10.1016/j.ajpath.2017.11.008. Epub 2017 Dec 16. PMID: 29253459

Fibroma-like PEComa: A Tuberous Sclerosis Complex-related Lesion. Larque AB, Kradin RL, Chebib I, et al. Am J Surg Pathol. 2018 Apr;42(4):500-505. doi: 10.1097/PAS.0000000000001024. PMID: 29324470

Novel EWSR1-SMAD3 Gene Fusions in a Group of Acral Fibroblastic Spindle Cell Neoplasms. Kao YC, Flucke U, Eijkelenboom A, et al. Am J Surg Pathol. 2018 Apr;42(4):522-528. doi: 10.1097/PAS.0000000000001002. PMID: 29309308

Unusual cause of infant pancytopenia: granulomatous bone marrow lesion with disseminated histoplasmosis. Li W, Sharma M. Blood. 2018 Mar 8;131(10):1154. doi: 10.1182/blood-2017-12-820084. No abstract available. PMID: 29519931

Integrated molecular profiling of juvenile myelomonocytic leukemia. Murakami N, Okuno Y, Yoshida K, et al. Blood. 2018 Apr 5;131(14):1576-1586. doi: 10.1182/blood-2017-07-798157. Epub 2018 Feb 2. PMID: 29437595

A fluid solution: Scientists explore use of liquid biopsy tests to find cancer DNA. Printz C. Cancer. 2018 May 1;124(9):1853-1854. doi: 10.1002/cncr.31387. No abstract available. PMID: 29676792

Clinical and mutational spectrum of highly differentiated, paired box 3:forkhead box protein o1 fusion-negative rhabdomyosarcoma: A report from the Children's Oncology Group. Teot LA, Schneider M, Thorner AR, et al. Cancer. 2018 May 1;124(9):1973-1981. doi: 10.1002/cncr.31286. Epub 2018 Feb 20. PMID: 29461635

Classical gonadoblastoma: its relationship to the 'dissecting' variant and undifferentiated gonadal tissue. Roth LM, Cheng L. Histopathology. 2018 Mar;72(4):545-555. doi: 10.1111/his.13387. Epub 2017 Nov 9. Review. PMID: 28881049

Utility of Phox2b immunohistochemical stain in neural crest tumours and non-neural crest tumours in paediatric patients. Warren M, Matsuno R, Tran H, Shimada H. Histopathology. 2018 Mar;72(4):685-696. doi: 10.1111/his.13412. Epub 2017 Dec 21. PMID: 28986989

Primary myxoid mesenchymal tumour with intracranial location: report of a case with a EWSR1-ATF1 fusion. Sciot R, Jacobs S, Calenbergh FV, Demaerel P, Wozniak A, Debiec-Rychter M. Histopathology. 2018 Apr;72(5):880-883. doi: 10.1111/his.13437. Epub 2018 Jan 11. No abstract available. PMID: 29143432

The evolving diagnosis of noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP). Lloyd RV, Asa SL, LiVolsi VA, et al. Hum Pathol. 2018 Apr;74:1-4. doi: 10.1016/j.humpath.2017.12.027. Epub 2018 Jan 16. No abstract available. PMID: 29339178

Is focal active colitis of greater clinical significance in pediatric patients? A retrospective review of 68 cases with clinical correlation. Osmond A, Ashok D, Francoeur CA, Miller M, Walsh JC. Hum Pathol. 2018 Apr;74:164-169. doi: 10.1016/j.humpath.2018.01.012. Epub 2018 Jan 31. PMID: 29360496

Effective use of Twitter and Facebook in pathology practice. Oltulu P, Mannan AASR, Gardner JM. Hum Pathol. 2018 Mar;73:128-143. doi: 10.1016/j.humpath.2017.12.017. Epub 2018 Jan 4. PMID: 29307629

Diagnostic utility of histone H3.3 G34W, G34R, and G34V mutant-specific antibodies for giant cell tumors of bone. Yamamoto H, Iwasaki T, Yamada Y, et al. Hum Pathol. 2018 Mar;73:41-50. doi: 10.1016/j.humpath.2017.11.020. Epub 2017 Dec 12. PMID: 29241742

Use of multicolor fluorescence in situ hybridization to detect deletions in clinical tissue sections. Yoshimoto M, Ludkovski O, Good J, et al. Lab Invest. 2018 Apr;98(4):403-413. doi: 10.1038/s41374-017-0007-2. Epub 2018 Jan 16. Review. Erratum in: Lab Invest. 2018 Mar 8. PMID: 29339834

Characterization of foreign materials in paraffin-embedded pathological specimens using in situ multi-elemental imaging with laser spectroscopy. Busser B, Moncayo S, Trichard F, et al. Mod Pathol. 2018 Mar;31(3):378-384. doi: 10.1038/modpathol.2017.152. Epub 2017 Nov 17. PMID: 29148536

Ultrasensitive automated RNA in situ hybridization for kappa and lambda light chain mRNA detects B-cell clonality in tissue biopsies with performance comparable or superior to flow cytometry. Guo L, Wang Z, Anderson CM, et al. Mod Pathol. 2018 Mar;31(3):385-394. doi: 10.1038/modpathol.2017.142. Epub 2017 Oct 20. PMID: 29052600

In Utero Protein Therapy for an Inherited Developmental Disorder. Mikkola ML. N Engl J Med. 2018 Apr 26;378(17):1637-1638. doi: 10.1056/NEJMe1803224. No abstract available. PMID: 29694818

Implementing Machine Learning in Health Care - Addressing Ethical Challenges. Char DS, Shah NH, Magnus D. N Engl J Med. 2018 Mar 15;378(11):981-983. doi: 10.1056/NEJMp1714229. No abstract available. PMID: 29539284

Activated ALK signals through the ERK-ETV5-RET pathway to drive neuroblastoma oncogenesis. Lopez-Delisle L, Pierre-Eugène C, Louis-Brennetot C, et al. Oncogene. 2018 Mar;37(11):1417-1429. doi: 10.1038/s41388-017-0039-5. Epub 2018 Jan 11. PMID: 29321660

PAX3-FOXO1 drives miR-486-5p and represses miR-221 contributing to pathogenesis of alveolar rhabdomyosarcoma. Hanna JA, Garcia MR, Lardennois A, et al. Oncogene. 2018 Apr;37(15):1991-2007. doi: 10.1038/s41388-017-0081-3. Epub 2018 Jan 25. PMID: 29367756

Elevated mitochondrial DNA copy numbers in pediatric acute lymphoblastic leukemia: A potential biomarker for predicting inferior survival. Jain A, Bakhshi S, Thakkar H, Gerards M, Singh A. Pediatr Blood Cancer. 2018 Mar;65(3). doi: 10.1002/pbc.26874. Epub 2017 Nov 14. PMID: 29134740

Tumor predisposition syndromes: The challenge of de novo mutations. Pérez-Albert P, de Rojas T, Rey L, et al. Pediatr Blood Cancer. 2018 Mar;65(3). doi: 10.1002/pbc.26882. Epub 2017 Nov 14. No abstract available. PMID: 29134750

Germline APC mutations in hepatoblastoma. Yang A, Sisson R, Gupta A, Tiao G, Geller JI. Pediatr Blood Cancer. 2018 Apr;65(4). doi: 10.1002/pbc.26892. Epub 2017 Dec 18. PMID: 29251405

Response Evaluation Criteria in Solid Tumors (RECIST) following neoadjuvant chemotherapy in osteosarcoma. Guenther LM, Rowe RG, Acharya PT, et al. Pediatr Blood Cancer. 2018 Apr;65(4). doi: 10.1002/pbc.26896. Epub 2017 Dec 18. PMID: 29251406

Gonadal dysgenesis is associated with worse outcomes in patients with ovarian nondysgerminomatous tumors: A report of the Children's Oncology Group AGCT 0132 study. Dicken BJ, Billmire DF, Krailo M, et al. Pediatr Blood Cancer. 2018 Apr;65(4). doi: 10.1002/pbc.26913. Epub 2017 Dec 29. PMID: 29286555

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