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Journal Watch


June and July 2016a

Compiled by Dr. Gino Somers, MBBS, BMedSc, PhD, FRCPA
Chair, SPP Research Committee
Head, Division of Pathology, Hospital for Sick Children
Associate Professor, University of Toronto

  1. Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus. Li N, Subrahmanyan L, Smith E, et al. Am J Hum Genet. 2016 Jun 2;98(6):1082-91. doi: 10.1016/j.ajhg.2016.03.022. Epub 2016 May 12. PMID: 27181681

  2. Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. Chen DH, Below JE, Shimamura A, et al. Am J Hum Genet. 2016 Jun 2;98(6):1146-58. doi: 10.1016/j.ajhg.2016.04.009. PMID: 27259050

  3. Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects. Boyle L, Wamelink MM, Salomons GS, et al. Am J Hum Genet. 2016 Jun 2;98(6):1235-42. doi: 10.1016/j.ajhg.2016.03.030. PMID: 27259054

  4. Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. Fenwick AL, Kliszczak M, Cooper F, et al. Am J Hum Genet. 2016 Jul 7;99(1):125-38. doi: 10.1016/j.ajhg.2016.05.019. PMID: 27374770

  5. Loss of H3K27 tri-methylation is a diagnostic marker for malignant peripheral nerve sheath tumors and an indicator for an inferior survival. Cleven AH, Sannaa GA, Briaire-de Bruijn I, et al. Mod Pathol. 2016 Jun;29(6):582-90. doi: 10.1038/modpathol.2016.45. PMID: 26990975

  6. ZBTB16: a novel sensitive and specific biomarker for yolk sac tumor. Xiao GQ, Li F, Unger PD, et al. Mod Pathol. 2016 Jun;29(6):591-8. doi: 10.1038/modpathol.2016.46. PMID: 26916077

  7. Renal pathology in hematopoietic cell transplant recipients: a contemporary biopsy, nephrectomy, and autopsy series. Brinkerhoff BT, Houghton DC, Troxell ML. Mod Pathol. 2016 Jun;29(6):637-52. doi: 10.1038/modpathol.2016.61. PMID: 27015134

  8. Mitochondria and Cancer. Vyas S, Zaganjor E, Haigis MC. Cell. 2016 Jul 28;166(3):555-66. doi: 10.1016/j.cell.2016.07.002. PMID: 27471965

  9. Mapping the Pairwise Choices Leading from Pluripotency to Human Bone, Heart, and Other Mesoderm Cell Types. Loh KM, Chen A, Koh PW, et al. Cell. 2016 Jul 14;166(2):451-67. doi: 10.1016/j.cell.2016.06.011. PMID: 27419872

  10. Peripheral Mechanosensory Neuron Dysfunction Underlies Tactile and Behavioral Deficits in Mouse Models of ASDs. Orefice LL, Zimmerman AL, Chirila AM, et al. Cell. 2016 Jul 14;166(2):299-313. doi:10.1016/j.cell.2016.05.033. PMID: 27293187

  11. A diagnostic algorithm for atypical spitzoid tumors: guidelines for immunohistochemical and molecular assessment. Cho-Vega JH. Mod Pathol. 2016 Jul;29(7):656-70. doi: 10.1038/modpathol.2016.70. PMID: 27102343

  12. Reproducibility of the NEPTUNE descriptor-based scoring system on whole-slide images and histologic and ultrastructural digital images. Barisoni L, Troost JP, Nast C, et al. Mod Pathol. 2016 Jul;29(7):671-84. doi: 10.1038/modpathol.2016.58.PMID: 27102348

  13. Ninety-four cases of encapsulated follicular variant of papillary thyroid carcinoma: A name change to Noninvasive Follicular Thyroid Neoplasm with Papillary-like Nuclear Features would help prevent overtreatment. Thompson LD. Mod Pathol. 2016 Jul;29(7):698-707. doi: 10.1038/modpathol.2016.65. PMID: 27102347.

  14. Gardner Fibroma: Clinical and Histopathologic Implications of Germline APC Mutation Association. Dahl NA, Sheil A, Knapke S, Geller JI. J Pediatr Hematol Oncol. 2016 Jul;38(5):e154-7. doi: 10.1097/MPH.0000000000000493. PMID: 26840078.

  15. Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences. Poznik GD, Xue Y, Mendez FL, et al. Nat Genet. 2016 Jun;48(6):593-9. doi: 10.1038/ng.3559. PMID: 27111036.

  16. The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Toriyama M, Lee C, Taylor SP, et al. Nat Genet. 2016 Jun;48(6):648-56. doi: 10.1038/ng.3558. PMID: 27158779

  17. Genome variation in precision medicine. Nat Genet. 2016 Jun 28;48(7):701. doi: 10.1038/ng.3614. PMID: 27350598

  18. Overtime under the microscope: Universities prep for impact of new labor rule on labs. Chakradhar S. Nat Med. 2016 Jun 7;22(6):572-3. doi: 10.1038/nm0616-572. PMID: 27270769

  19. Chromatin immunoprecipitation from fixed clinical tissues reveals tumor-specific enhancer profiles. Cejas P, Li L, O'Neill NK, Duarte M, et al. Nat Med. 2016 Jun;22(6):685-91. doi: 10.1038/nm.4085. Epub 2016 Apr 25. PMID: 27111282

  20. The microbiome in early life: implications for health outcomes. Tamburini S, Shen N, Wu HC, Clemente JC. Nat Med. 2016 Jul 7;22(7):713-22. doi: 10.1038/nm.4142. PMID: 27387886

  21. Using Newborn Screening Bloodspots for Research: Public Preferences for Policy Options. Hayeems RZ, Miller FA, Barg CJ, et al. Pediatrics. 2016 Jun;137(6). pii: e20154143. doi: 10.1542/peds.2015-4143. PMID: 27244855

  22. Can Big Data Shed Light on the Origins of Pediatric Cancer? Frazier AL, Krailo M, Poynter J. Pediatrics. 2016 Jun;137(6). pii: e20160983. doi: 10.1542/peds.2016-0983. PMID: 27217479

  23. Sudden Unexpected Death in Fetal Life Through Early Childhood. Goldstein RD, Kinney HC, Willinger M. Pediatrics. 2016 Jun;137(6). pii: e20154661. doi: 10.1542/peds.2015-4661. PMID: 27230764

  24. Maternal Risk Factors and Perinatal Characteristics for Hirschsprung Disease. Löf Granström A, Svenningsson A, Hagel E, et al. Pediatrics. 2016 Jul;138(1). pii: e20154608. doi: 10.1542/peds.2015-4608. PMID: 27307146

  25. Histopathological features of gastrointestinal mucosal biopsies in children with juvenile idiopathic arthritis. Pichler J, Ong C, Shah N, et al. Pediatr Res. 2016 Jun;79(6):895-901. doi: 10.1038/pr.2016.27. PMID: 26882369

  26. Smad7 interrupts TGF-β signaling in intestinal macrophages and promotes inflammatory activation of these cells during necrotizing enterocolitis. MohanKumar K, Namachivayam K, Chapalamadugu KC, et al. Pediatr Res. 2016 Jun;79(6):951-61. doi: 10.1038/pr.2016.18. PMID: 26859364

  27. CpG island shore methylation of ZFPM2 is identified in tetralogy of fallot samples. Sheng W, Chen L, Wang H, et al. Pediatr Res. 2016 Jul;80(1):151-8. doi: 10.1038/pr.2016.42. PMID: 26959486

  28. Reprogramming of avian neural crest axial identity and cell fate. Simoes-Costa M, Bronner ME. Science. 2016 Jun 24;352(6293):1570-3. doi: 10.1126/science.aaf2729. PMID: 27339986

  29. Visualization and analysis of gene expression in tissue sections by spatial transcriptomics. Ståhl PL, Salmén F, Vickovic S, et al. Science. 2016 Jul 1;353(6294):78-82. doi: 10.1126/science.aaf2403. PMID: 27365449

  30. BIOMEDICAL RESEARCH. Countering imprecision in precision medicine. Hey SP, Kesselheim AS. Science. 2016 Jul 29;353(6298):448-9. doi: 10.1126/science.aaf5101. PMID: 27471295

  31. Getting It Right for Patient Safety:  Specimen Collection Process Improvement From Operating Room to Pathology. D'Angelo R, Mejabi O. Am J Clin Pathol. 2016 Jul;146(1):8-17. doi: 10.1093/ajcp/aqw057. PMID: 27402606

  32. Pathologic Studies of Fatal Encephalomyelitis in Children Caused by Enterovirus 71. Xing J, Liu D, Shen S, et al. Am J Clin Pathol. 2016 Jul;146(1):95-106. doi: 10.1093/ajcp/aqw089. PMID: 27357294

  33. Utilization of Chromogenic In Situ Hybridization to Assess Ploidy in the Diagnosis of Hydatidiform Mole. Kunesh JP, Kunesh JG, Jorgensen RJ, Corral CD, Blakey JD. Am J Clin Pathol. 2016 Jul;146(1):125-31. doi:10.1093/ajcp/aqw095. PMID: 27402609

  34. Epithelial-Derived Inflammation Disrupts Elastin Assembly and Alters Saccular Stage Lung Development. Benjamin JT, van der Meer R, Im AM, et al. Am J Pathol. 2016 Jul;186(7):1786-800. doi: 10.1016/j.ajpath.2016.02.016. PMID: 27181406

  35. Evidence Supporting a Lymphatic Endothelium Origin for Angiomyolipoma, a TSC2(-) Tumor Related to Lymphangioleiomyomatosis. Yue M, Pacheco G, Cheng T, et al. Am J Pathol. 2016 Jul;186(7):1825-36. doi:10.1016/j.ajpath.2016.03.009. PMID: 27289491

  36. Frequent HRAS Mutations in Malignant Ectomesenchymoma: Overlapping Genetic Abnormalities With Embryonal Rhabdomyosarcoma. Huang SC, Alaggio R, Sung YS, et al. Am J Surg Pathol. 2016 Jul;40(7):876-85. doi: 10.1097/PAS.0000000000000612. PMID: 26872011

  37. Spleen Histologic Appearance in Common Variable Immunodeficiency: Analysis of 17 Cases. Furudoï A, Gros A, Stanislas S, et al. Am J Surg Pathol. 2016 Jul;40(7):958-67. doi: 10.1097/PAS.0000000000000661. PMID: 27158760

  38. Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome. Völkl S, Rensing-Ehl A, Allgäuer A, et al. Blood. 2016 Jul 14;128(2):227-38. doi: 10.1182/blood-2015-11-685024. PMID: 27099149

  39. Diffuse sclerosing variant of papillary thyroid carcinoma: major genetic alterations and prognostic implications. Joung JY, Kim TH, Jeong DJ, et al. Histopathology. 2016 Jul;69(1):45-53. doi: 10.1111/his.12902. PMID: 26568156

  40. ALK, ROS1 and NTRK3 gene rearrangements in inflammatory myofibroblastic tumours. Yamamoto H, Yoshida A, Taguchi K, et al. Histopathology. 2016 Jul;69(1):72-83. doi: 10.1111/his.12910. PMID: 26647767

  41. The H3F3 K36M mutant antibody is a sensitive and specific marker for the diagnosis of chondroblastoma. Amary MF, Berisha F, Mozela R, et al. Histopathology. 2016 Jul;69(1):121-7. doi: 10.1111/his.12945. PMID: 26844533

  42. Use of monoclonal antibodies to detect specific mutations in formalin-fixed, paraffin-embedded tissue sections. Guo Z, Lloyd RV. Hum Pathol. 2016 Jul;53:168-77. doi: 10.1016/j.humpath.2016.03.013. PMID: 27083401

  43. Tumor progression in DICER1-mutated cystic nephroma-witnessing the genesis of anaplastic sarcoma of the kidney. Wu MK, Cotter MB, Pears J, et al. Hum Pathol. 2016 Jul;53:114-20. doi: 10.1016/j.humpath.2016.03.002. PMID: 27036314

  44. Downregulation of c-Myc is involved in TLR3-mediated tumor death of neuroblastoma xenografts. Lin LL, Huang CC, Wu CL, et al. Lab Invest. 2016 Jul;96(7):719-30. doi: 10.1038/labinvest.2016.57. PMID: 27183205

  45. Explant culture of sarcoma patients' tissue. Muff R, Botter SM, Husmann K, et al. Lab Invest. 2016 Jul;96(7):752-62. doi: 10.1038/labinvest.2016.49. PMID: 27111283

  46. ALK inhibitor resistance in ALK(F1174L)-driven neuroblastoma is associated with AXL activation and induction of EMT. Debruyne DN, Bhatnagar N, Sharma B, et al. Oncogene. 2016 Jul 14;35(28):3681-91. doi: 10.1038/onc.2015.434. PMID: 26616860

  47. Identification and analysis of CXCR4-positive synovial sarcoma-initiating cells. Kimura T, Wang L, Tabu K, et al. Oncogene. 2016 Jul 28;35(30):3932-43. doi: 10.1038/onc.2015.461. PMID: 26640147

  48. CD99 regulates neural differentiation of Ewing sarcoma cells through miR-34a-Notch-mediated control of NF-κB signaling. Ventura S, Aryee DN, Felicetti F, et al. Oncogene. 2016 Jul 28;35(30):3944-54. doi: 10.1038/onc.2015.463. PMID: 26616853

  49. Therapeutic Impact of Cytoreductive Surgery and Irradiation of Posterior Fossa Ependymoma in the Molecular Era: A Retrospective Multicohort Analysis. Ramaswamy V, Hielscher T, Mack SC, et al. J Clin Oncol. 2016 Jul 20;34(21):2468-77. doi: 10.1200/JCO.2015.65.7825. PMID: 27269943

  50. Death Scene Investigation and Autopsy Practices in Sudden Unexpected Infant Deaths. Erck Lambert AB, Parks SE, Camperlengo L, et al. J Pediatr. 2016 Jul;174:84-90.e1. doi: 10.1016/j.jpeds.2016.03.057. PMID: 27113380

  51. The past, present and future of the PhD thesis. Nature. 2016 Jul 6;535(7610):7. doi: 10.1038/535007a. PMID: 27383947

  52. Use Zika to renew focus on birth-defect research. Nature. 2016 Jul 5;535(7610):8. doi: 10.1038/535008a. PMID: 27383948

  53. Resolving early mesoderm diversification through single-cell expression profiling. Scialdone A, Tanaka Y, Jawaid W, et al. Nature. 2016 Jul 6;535(7611):289-93. doi: 10.1038/nature18633. PMID: 27383781

  54. Fibrolamellar Hepatocellular Carcinoma: Mechanistic Distinction From Adult Hepatocellular Carcinoma. Riggle KM, Turnham R, Scott JD, Yeung RS, Riehle KJ. Pediatr Blood Cancer. 2016 Jul;63(7):1163-7. doi: 10.1002/pbc.25970. PMID: 26990031

  55. DNA Methylation Adds Prognostic Value to Minimal Residual Disease Status in Pediatric T-Cell Acute Lymphoblastic Leukemia. Borssén M, Haider Z, Landfors M, et al. Pediatr Blood Cancer. 2016 Jul;63(7):1185-92. doi: 10.1002/pbc.25958. PMID: 26928953

  56. Evolution of Renal Cysts to Anaplastic Sarcoma of Kidney in a Child With DICER1 Syndrome. Wu MK, Goudie C, Druker H, et al. Pediatr Blood Cancer. 2016 Jul;63(7):1272-5. doi: 10.1002/pbc.25959. PMID: 26928971
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