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August 2017

Respectfully submitted by Karen Chisholm, MD, Seattle Children's Hospital

1. Identification of NTRK fusions in pediatric mesenchymal tumors. Pavlick D, Schrock AB, Malicki D, Stephens PJ, Kuo DJ, Ahn H, Turpin B, Allen JM, Rosenzweig M, Badizadegan K, Ross JS, Miller VA, Wong V, Ali SM. Pediatr Blood Cancer. 2017 Aug;64(8). PMID: 28097808

2. SMARCB1/INI1 Loss in Epithelioid Schwannoma: A Clinicopathologic and Immunohistochemical Study of 65 Cases. Jo VY, Fletcher CDM. Am J Surg Pathol. 2017 Aug;41(8):1013-1022. PMID: 28368924

3. H3F3A (Histone 3.3) G34W Immunohistochemistry: A Reliable Marker Defining Benign and Malignant Giant Cell Tumor of Bone. Amary F, Berisha F, Ye H, Gupta M, Gutteridge A, Baumhoer D, Gibbons R, Tirabosco R, O'Donnell P, Flanagan AM Am J Surg Pathol. 2017 Aug;41(8):1059-1068. PMID: 28505000

4. Role of Histone H3K27 Trimethylation Loss as a Marker for Malignant Peripheral Nerve Sheath Tumor in Fine-Needle Aspiration and Small Biopsy Specimens. Mito JK, Qian X, Doyle LA, Hornick JL, Jo VY, Am J Clin Pathol. 2017 Aug;148(2):179–189.

5. Inflammatory myofibroblastic tumors of the lung carrying a chimeric A2M-ALK gene: report of two infantile cases and review of the differential diagnosis of infantile pulmonary lesions. Tanaka M, Kohashi K, Kushitani K, Yoshida M, Kurihara S, Kawashima M, Ueda Y, Souzaki R, Kinoshita Y, Oda Y, Takeshima Y, Hiyama E, Taguchi T, Tanaka Y. Hum Pathol. 2017 Aug;66:177-182. PMID: 28705706

6. Congenital Capillary Proliferation of the Kidney: A Distinctive Renal Vascular Lesion of Childhood. Cajaiba MM, North PE, Gong S, Dickman PS, Mroczek-Musulman E, Sauer DA, Perlman EJ. Hum Pathol. 2017 Aug;66:59-66. PMID: 28554576

7. Reliability of intraoperative frozen section for the diagnosis of renal tumors suspicious for malignancy in children and adolescents. Carrasco A Jr, Caldwell BT, Cost CR, Greffe BS, Garrington TP, Bruny JL, Black JO, Cost NG. Pediatr Blood Cancer. 2017 Aug;64(8). PMID: 28097784

8. Revisions to the International Neuroblastoma Response Criteria: A Consensus Statement From the National Cancer Institute Clinical Trials Planning Meeting. Park JR, Bagatell R, Cohn SL, Pearson AD, Villablanca JG, Berthold F, Burchill S, Boubaker A, McHugh K, Nuchtern JG, London WB, Seibel NL, Lindwasser OW, Maris JM, Brock P, Schleiermacher G, Ladenstein R, Matthay KK, Valteau-Couanet D. J Clin Oncol. 2017 Aug 1;35(22):2580-2587. PMID: 28471719

9. MYCN induces neuroblastoma in primary neural crest cells. Olsen RR, Otero JH, García-López J, Wallace K, Finkelstein D, Rehg JE, Yin Z, Wang YD, Freeman KW. Oncogene. 2017 Aug 31;36(35):5075-5082. PMID: 28459463

10. Liver Biopsy Findings in Patients with Hematopoietic-cell Transplantation. Eskandari F, Rowan D, Hari P, Kapke J, Schneidewend R, Hagen C, Oshima K. Hum Pathol. 2017 Aug;66:136-143. PMID: 28688898

11. Low and High Birth Weights Are Risk Factors for Nonalcoholic Fatty Liver Disease in Children. Newton KP, Feldman HS, Chambers CD, Wilson L, Behling C, Clark JM, Molleston JP, Chalasani N, Sanyal AJ, Fishbein MH, Lavine JE, Schwimmer JB; Nonalcoholic Steatohepatitis Clinical Research Network (NASH CRN). J Pediatr. 2017 Aug;187:141-146.e1. PMID: 28366357

12. Value of upper endoscopic biopsies in predicting medical refractoriness in pediatric patients with ulcerative colitis. Sullivan KJ, Wei M, Chernetsova E, Hallani S, de Nanassy J, Benchimol EI, Mack DR, Nasr A, El Demellawy D. Hum Pathol. 2017 Aug;66:167-176. PMID: 28652148

13. The kinesin KIF14 is overexpressed in medulloblastoma and downregulation of KIF14 suppressed tumor proliferation and induced apoptosis. Li KK, Qi Y, Xia T, Chan AK, Zhang ZY, Aibaidula A, Zhang R, Zhou L, Yao Y, Ng HK. Lab Invest. 2017 Aug;97(8):946-961. PMID: 28504687

14. Endothelium-Independent Primitive Myxoid Vascularization Creates Invertebrate-Like Channels to Maintain Blood Supply in Optic Gliomas. Snuderl M, Zhang G, Wu P, Jennings TS, Shroff S, Ortenzi V, Jain R, Cohen B, Reidy JJ, Dushay MS, Wisoff JH, Harter DH, Karajannis MA, Fenyo D, Neubert TA, Zagzag D. Am J Pathol. 2017 Aug;187(8):1867-1878. PMID: 28606795

15. Impact of Initial CSF Findings on Outcome Among Patients With National Cancer Institute Standard- and High-Risk B-Cell Acute Lymphoblastic Leukemia: A Report From the Children's Oncology Group. Winick N, Devidas M, Chen S, Maloney K, Larsen E, Mattano L, Borowitz MJ, Carroll A, Gastier-Foster JM, Heerema NA, Willman C, Wood B, Loh ML, Raetz E, Hunger SP, Carroll WL. J Clin Oncol. 2017 Aug 1;35(22):2527-2534. PMID: 28535084

16. Recurrent SPI1 (PU.1) fusions in high-risk pediatric T cell acute lymphoblastic leukemia. Seki M, Kimura S, Isobe T, Yoshida K, Ueno H, Nakajima-Takagi Y, Wang C, Lin L, Kon A, Suzuki H, Shiozawa Y, Kataoka K, Fujii Y, Shiraishi Y, Chiba K, Tanaka H, Shimamura T, Masuda K, Kawamoto H, Ohki K, Kato M, Arakawa Y, Koh K, Hanada R, Moritake H, Akiyama M, Kobayashi R, Deguchi T, Hashii Y, Imamura T, Sato A, Kiyokawa N, Oka A, Hayashi Y, Takagi M, Manabe A, Ohara A, Horibe K, Sanada M, Iwama A, Mano H, Miyano S, Ogawa S, Takita J. Nat Genet. 2017 Aug;49(8):1274-1281. PMID: 28671687

17. The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia. Liu Y, Easton J, Shao Y, Maciaszek J, Wang Z, Wilkinson MR, McCastlain K, Edmonson M, Pounds SB, Shi L, Zhou X, Ma X, Sioson E, Li Y, Rusch M, Gupta P, Pei D, Cheng C, Smith MA, Auvil JG, Gerhard DS, Relling MV, Winick NJ, Carroll AJ, Heerema NA, Raetz E, Devidas M, Willman CL, Harvey RC, Carroll WL, Dunsmore KP, Winter SS, Wood BL, Sorrentino BP, Downing JR, Loh ML, Hunger SP, Zhang J, Mullighan CG. Nat Genet. 2017 Aug;49(8):1211-1218. PMID: 28671688

18. Expanded repertoire of <i>RASGRP2</i> variants responsible for platelet dysfunction and severe bleeding. Westbury SK, Canault M, Greene D, Bermejo E, Hanlon K, Lambert MP, Millar CM, Nurden P, Obaji SG, Revel-Vilk S, Van Geet C, Downes K, Papadia S, Tuna S, Watt C, Consortium NBD, Freson K, Laffan MA, Ouwehand WH, Alessi MC, Turro E, Mumford AD. Blood. 2017 Aug 24;130(8):1026-1030 PMID: 28637664

19. Platelet-Derived Growth Factor BB Influences Muscle Regeneration in Duchenne Muscle Dystrophy. Piñol-Jurado P, Gallardo E, de Luna N, Suárez-Calvet X, Sánchez-Riera C, Fernández-Simón E, Gomis C, Illa I, Díaz-Manera J. Am J Pathol. 2017 Aug;187(8):1814-1827. PMID: 28618254

20. NAD Deficiency, Congenital Malformations, and Niacin Supplementation. Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL N Engl J Med. 2017 Aug 10;377(6):544-552. PMID: 28792876

21. A New Approach to the Investigation of Sudden Unexpected Death. Goldstein RD, Nields HM, Kinney HC. Pediatrics. 2017 Aug;140(2). pii: e20170024. PMID: 28679642

22. Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood. Edvardson S, Nicolae CM, Agrawal PB, Mignot C, Payne K, Prasad AN, Prasad C, Sadler L, Nava C, Mullen TE, Begtrup A, Baskin B, Powis Z, Shaag A, Keren B, Moldovan GL, Elpeleg O. Am J Hum Genet. 2017 Aug 3;101(2):267-273. PMID: 28777933

23. Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. Habarou F, Hamel Y, Haack TB, Feichtinger RG, Lebigot E, Marquardt I, Busiah K, Laroche C, Madrange M, Grisel C, Pontoizeau C, Eisermann M, Boutron A, Chrétien D, Chadefaux-Vekemans B, Barouki R, Bole-Feysot C, Nitschke P, Goudin N, Boddaert N, Nemazanyy I, Delahodde A, Kölker S, Rodenburg RJ, Korenke GC, Meitinger T, Strom TM, Prokisch H, Rotig A, Ottolenghi C, Mayr JA, de Lonlay P. Am J Hum Genet. 2017 Aug 3;101(2):283-290. PMID: 28757203

24. Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction. Milev MP, Grout ME, Saint-Dic D, Cheng YH, Glass IA, Hale CJ, Hanna DS, Dorschner MO, Prematilake K, Shaag A, Elpeleg O, Sacher M, Doherty D, Edvardson S. Am J Hum Genet. 2017 Aug 3;101(2):291-299. PMID: 28777934

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