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Journal Watch


October 2017

Respectfully submitted by Gino Somers, PhD, Hospital for Sick Children

1. Ensuring the Quality of Point-of-Care Testing in a Large and Decentralized Ambulatory Care Setting. Arboleda VA, Garner OB. Am J Clin Pathol. 2017 Oct 1;148(4):336-344. doi: 10.1093/ajcp/aqx081. PMID: 28967953

2. Creation and Evaluation of a Laboratory Administration Curriculum for Pathology Residents. Guarner J, Hill CE, Amukele T. Am J Clin Pathol. 2017 Oct 1;148(4):368-373. doi: 0.1093/ajcp/aqx085. PMID: 28927229

3. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H. Am J Hum Genet. 2017 Oct 5;101(4):525-538. doi: 10.1016/j.ajhg.2017.08.015. Epub 2017 Sep 21. PMID: 28942965

4. Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. De Mori R, Romani M, D'Arrigo S, Zaki MS, Lorefice E, Tardivo S, Biagini T, Stanley V, Musaev D, Fluss J, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, Issa MY, Anello D, Casella A, Ginevrino M, Leggins AS, Roosing S, Alfonsi R, Rosati J, Schot R, Mancini GMS, Bertini E, Dobyns WB, Mazza T, Gleeson JG, Valente EM. Am J Hum Genet. 2017 Oct 5;101(4):552-563. doi: 10.1016/j.ajhg.2017.08.017. Epub 2017 Sep 28. PMID: 28965847

5. Cyclin D1 Is Expressed in Neoplastic Cells of Langerhans Cell Histiocytosis but Not Reactive Langerhans Cell Proliferations. Shanmugam V, Craig JW, Hornick JL, Morgan EA, Pinkus GS, Pozdnyakova O. Am J Surg Pathol. 2017 Oct;41(10):1390-1396. doi: 10.1097/PAS.0000000000000897. PMID: 28622183

6. CD207+ CD1a+ cells circulate in pediatric patients with active Langerhans cell histiocytosis. Carrera Silva EA, Nowak W, Tessone L, Olexen CM, Ortiz Wilczyñski JM, Estecho IG, Elena G, Errasti AE, Rosso DA. Blood. 2017 Oct 26;130(17):1898-1902. doi: 10.1182/blood-2017-05-782730. Epub 2017 Aug 28. PMID: 28847997

7. Hodgkin lymphoma classification: Are we at a crossroads? Carbone A, Gloghini A. Cancer. 2017 Oct 1;123(19):3654-3655. doi: 10.1002/cncr.30824. Epub 2017 Jun 16. No abstract available. PMID: 28621881

8. Assessment of programmed death-ligand 1 expression and tumor-associated immune cells in pediatric cancer tissues. Majzner RG, Simon JS, Grosso JF, Martinez D, Pawel BR, Santi M, Merchant MS, Geoerger B, Hezam I, Marty V, Vielh P, Daugaard M, Sorensen PH, Mackall CL, Maris JM. Cancer. 2017 Oct 1;123(19):3807-3815. doi: 10.1002/cncr.30724. Epub 2017 Jun 13. PMID: 28608950

9. Second malignancies in Ewing sarcoma survivors. Lin AY, Hall ET. Cancer. 2017 Oct 15;123(20):4075. doi: 10.1002/cncr.30922. Epub 2017 Aug 24. No abstract available. PMID: 28837218

10. Alterted SLIT2/ROBO1 signalling is linked to impaired placentation of missed and threatened miscarriage in early pregnancy. Li P, Shi Y, Shuai H, Cai Y, Lu W, Wang G, Gao L, Wang L, Fan X, Yang X. Histopathology. 2017 Oct;71(4):543-552. doi: 10.1111/his.13250. Epub 2017 Jul 11. PMID: 28485101

11. A pathologist's perspective on induced pluripotent stem cells. Watanabe N, Santostefano KE, Yachnis AT, Terada N. Lab Invest. 2017 Oct;97(10):1126-1132. doi: 10.1038/labinvest.2017.81. Epub 2017 Jul 31. Review. PMID: 28759008

12. The evolving concept of cancer stem-like cells in thyroid cancer and other solid tumors. Hardin H, Zhang R, Helein H, Buehler D, Guo Z, Lloyd RV. Lab Invest. 2017 Oct;97(10):1142-1151. doi: 10.1038/labinvest.2017.41. Epub 2017 Apr 10. Review. PMID: 28394318

13. Mutually exclusive recurrent KRAS and MAP2K1 mutations in Rosai-Dorfman disease. Garces S, Medeiros LJ, Patel KP, Li S, Pina-Oviedo S, Li J, Garces JC, Khoury JD, Yin CC. Mod Pathol. 2017 Oct;30(10):1367-1377. doi: 10.1038/modpathol.2017.55. Epub 2017 Jun 30. PMID: 28664935

14. Gastroblastoma harbors a recurrent somatic MALAT1-GLI1 fusion gene. Graham RP, Nair AA, Davila JI, Jin L, Jen J, Sukov WR, Wu TT, Appelman HD, Torres-Mora J, Perry KD, Zhang L, Kloft-Nelson SM, Knudson RA, Greipp PT, Folpe AL. Mod Pathol. 2017 Oct;30(10):1443-1452. doi: 10.1038/modpathol.2017.68. Epub 2017 Jul 21. PMID: 28731043

15. Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery. Blumcke I, Spreafico R, Haaker G, et al. N Engl J Med. 2017 Oct 26;377(17):1648-1656. doi: 10.1056/NEJMoa1703784. PMID: 29069555

16. An activating mutation of GNB1 is associated with resistance to tyrosine kinase inhibitors in ETV6-ABL1-positive leukemia. Zimmermannova O, Doktorova E, Stuchly J, Kanderova V, Kuzilkova D, Strnad H, Starkova J, Alberich-Jorda M, Falkenburg JHF, Trka J, Petrak J, Zuna J, Zaliova M. Oncogene. 2017 Oct 26;36(43):5985-5994. doi: 10.1038/onc.2017.210. Epub 2017 Jun 26. PMID: 28650474

17. EWS-FLI1 perturbs MRTFB/YAP-1/TEAD target gene regulation inhibiting cytoskeletal autoregulatory feedback in Ewing sarcoma. Katschnig AM, Kauer MO, Schwentner R, Tomazou EM, Mutz CN, Linder M, Sibilia M, Alonso J, Aryee DNT, Kovar H. Oncogene. 2017 Oct 26;36(43):5995-6005. doi: 10.1038/onc.2017.202. Epub 2017 Jul 3. PMID: 28671673

18. A novel nuclear complex of DRR1, F-actin and COMMD1 involved in NF-κB degradation and cell growth suppression in neuroblastoma. Mu P, Akashi T, Lu F, Kishida S, Kadomatsu K. Oncogene. 2017 Oct 12;36(41):5745-5756. doi: 10.1038/onc.2017.181. Epub 2017 Jun 12. PMID: 28604741

19. Multiscale 3D Genome Rewiring during Mouse Neural Development. Bonev B, Mendelson Cohen N, Szabo Q, Fritsch L, Papadopoulos GL, Lubling Y, Xu X, Lv X, Hugnot JP, Tanay A, Cavalli G. Cell. 2017 Oct 19;171(3):557-572.e24. doi: 10.1016/j.cell.2017.09.043. PMID: 29053968

20. Single-cell epigenomics: Recording the past and predicting the future. Kelsey G, Stegle O, Reik W. Science. 2017 Oct 6;358(6359):69-75. doi: 10.1126/science.aan6826. Review. PMID: 28983045

21. Clinical and prognostic significance of eosinophilia and inv(16)/t(16;16) in pediatric acute myelomonocytic leukemia (AML-M4). Klein K, de Haas V, Bank IEM, Beverloo HB, Zwaan CM, Kaspers GL. Pediatr Blood Cancer. 2017 Oct;64(10). doi: 10.1002/pbc.26512. Epub 2017 Mar 30. PMID: 28371234

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