A case of high‐risk neuroblastoma in a child with CLOVES syndrome

医学 小儿肿瘤学 副主编 家庭医学 引用 中心(范畴论) 图书馆学 内科学 癌症 化学 计算机科学 结晶学
作者
Marina Girgis,Daniel J. Benedetti
出处
期刊:Pediatric Blood & Cancer [Wiley]
卷期号:70 (9)
标识
DOI:10.1002/pbc.30393
摘要

Pediatric Blood & CancerEarly View e30393 LETTER TO THE EDITOR A case of high-risk neuroblastoma in a child with CLOVES syndrome Marina Girgis, Marina Girgis orcid.org/0009-0004-6091-9710 Departments of Internal Medicine and Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USASearch for more papers by this authorDaniel J. Benedetti, Corresponding Author Daniel J. Benedetti [email protected] orcid.org/0000-0003-1524-3518 Department of Pediatrics, Division of Pediatric Hematology/Oncology, Vanderbilt University Medical Center, Nashville, Tennessee, USA Correspondence Daniel J. Benedetti, Department of Pediatrics, Division of Hematology/Oncology, Vanderbilt University Medical Center, 397 Preston Research Bldg, 2200 Pierce Ave, Nashville, TN 37232, USA. Email: [email protected]Search for more papers by this author Marina Girgis, Marina Girgis orcid.org/0009-0004-6091-9710 Departments of Internal Medicine and Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USASearch for more papers by this authorDaniel J. Benedetti, Corresponding Author Daniel J. Benedetti [email protected] orcid.org/0000-0003-1524-3518 Department of Pediatrics, Division of Pediatric Hematology/Oncology, Vanderbilt University Medical Center, Nashville, Tennessee, USA Correspondence Daniel J. Benedetti, Department of Pediatrics, Division of Hematology/Oncology, Vanderbilt University Medical Center, 397 Preston Research Bldg, 2200 Pierce Ave, Nashville, TN 37232, USA. Email: [email protected]Search for more papers by this author First published: 24 April 2023 https://doi.org/10.1002/pbc.30393Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. REFERENCES 1Mirzaa G, Graham JM Jr, Keppler-Noreuil K. PIK3CA-related overgrowth spectrum. In: Adam MP , Everman DB , Mirzaa GM , eds. GeneReviews. University of Washington, Seattle; 1993. 2Kurek KC, Luks VL, Ayturk UM, et al. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet. 2012; 90(6): 1108- 1115. 3Madsen RR, Vanhaesebroeck B, Semple RK. Cancer-associated PIK3CA mutations in overgrowth disorders. Trends Mol Med. 2018; 24(10): 856- 870. 4Martinez-Lopez A, Blasco-Morente G, Perez-Lopez I, et al. CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS). Clin Genet. 2017; 91(1): 14- 21. 5Kandoth C, McLellan MD, Vandin F, et al. Mutational landscape and significance across 12 major cancer types. Nature. 2013; 502(7471): 333- 339. 6Stachler MD, Rinehart EM, Garcia E, Lindeman NI. PIK3CA mutations are common in many tumor types and are often associated with other driver mutations. Appl Immunohistochem Mol Morphol. 2016; 24(5): 313- 319. 7Samuels Y, Waldman T. Oncogenic mutations of PIK3CA in human cancers. Curr Top Microbiol Immunol. 2010; 347: 21- 41. 8Thorpe LM, Yuzugullu H, Zhao JJ. PI3K in cancer: divergent roles of isoforms, modes of activation and therapeutic targeting. Nat Rev Cancer. 2015; 15(1): 7- 24. 9Kostopoulou ON, Holzhauser S, Lange BKA, et al. Analyses of FGFR3 and PIK3CA mutations in neuroblastomas and the effects of the corresponding inhibitors on neuroblastoma cell lines. Int J Oncol. 2019; 55(6): 1372- 1384. 10Peterman CM, Fevurly RD, Alomari AI, et al. Sonographic screening for Wilms tumor in children with CLOVES syndrome. Pediatr Blood Cancer. 2017; 64(12):e26684. 11Blatt J, Finger M, Price V, Crary SE, Pandya A, Adams DM. Cancer risk in Klippel–Trenaunay syndrome. Lymphat Res Biol. 2019; 17(6): 630- 636. 12Matthay KK, Shulkin B, Ladenstein R, et al. Criteria for evaluation of disease extent by (123)I-metaiodobenzylguanidine scans in neuroblastoma: a report for the International Neuroblastoma Risk Group (INRG) Task Force. Br J Cancer. 2010; 102(9): 1319- 1326. 13MacFarland SP, Zelley K, Surrey LF, et al. Pediatric somatic tumor sequencing identifies underlying cancer predisposition. JCO Precis Oncol. 2019; 3:PO1900062. 14Zhang J, Walsh MF, Wu G, et al. Germline mutations in predisposition genes in pediatric cancer. N Engl J Med. 2015; 373(24): 2336- 2346. 15Grobner SN, Worst BC, Weischenfeldt J, et al. The landscape of genomic alterations across childhood cancers. Nature. 2018; 555(7696): 321- 327. 16Newman S, Nakitandwe J, Kesserwan CA, et al. Genomes for kids: the scope of pathogenic mutations in pediatric cancer revealed by comprehensive DNA and RNA sequencing. Cancer Discov. 2021; 11(12): 3008- 3027. 17Mussa A, Duffy KA, Carli D, et al. The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum. J Cancer Res Clin Oncol. 2019; 145(12): 3115- 3123. 18Mills JR, Moyer AM, Kipp BR, Poplawski AB, Messiaen LM, Babovic-Vuksanovic D. Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: co-occurrence of mosaicism for 2 rare disorders. Clin Genet. 2018; 93(1): 187- 190. 19Brodeur GM, Nichols KE, Plon SE, Schiffman JD, Malkin D. Pediatric cancer predisposition and surveillance: an overview, and a tribute to Alfred G. Knudson Jr. Clin Cancer Res. 2017; 23(11): e1- e5. https://doi.org/10.1158/1078-0432.CCR-17-0702 20Griff JR, Duffy KA, Kalish JM. Characterization and childhood tumor risk assessment of genetic and epigenetic syndromes associated with lateralized overgrowth. Front Pediatr. 2020; 8:613260. 21Crepin J-C, Carmignac V, Kuentz P, et al. Low risk of embryonic cancer in PIK3CA-related overgrowth spectrum: impact on screening recommendations. Paper presented at: Proceedings of International Society for the Study of Vascular Anomalies; 2018: P160. 22Kamihara J, Bourdeaut F, Foulkes WD, et al. Retinoblastoma and neuroblastoma predisposition and surveillance. Clin Cancer Res. 2017; 23(13): e98- e106. 23Venot Q, Blanc T, Rabia SH, et al. Targeted therapy in patients with PIK3CA-related overgrowth syndrome. Nature. 2018; 558(7711): 540- 546. 24Andre F, Ciruelos E, Rubovszky G, et al. Alpelisib for PIK3CA-mutated, hormone receptor-positive advanced breast cancer. N Engl J Med. 2019; 380(20): 1929- 1940. 25Dam V, Morgan BT, Mazanek P, Hogarty MD. Mutations in PIK3CA are infrequent in neuroblastoma. BMC Cancer. 2006; 6: 177. Early ViewOnline Version of Record before inclusion in an issuee30393 ReferencesRelatedInformation

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