References
- Maris JM, Hogarty MD, Bagatell R, et al. Neuroblastoma. Lancet. 2007;369:2106–2120.
- Ora I, Eggert A. Progress in treatment and risk stratification of neuroblastoma: impact on future clinical and basic research. Semin Cancer Biol. 2011;21:217–228.
- Joshi VV, Silverman JF. Pathology of neuroblastic tumors. Semin Diagn Pathol. 1994;11:107–117.
- Golden CB, Feusner JH. Malignant abdominal masses in children: quick guide to evaluation and diagnosis. Pediatr Clin N Am. 2002;49:1369–1392, viii.
- Huff V. Wilms' tumours: about tumour suppressor genes, an oncogene and a chameleon gene. Nat Rev Cancer. 2011;11:111–121.
- Davidoff AM. Wilms' tumor. Curr Opin Pediatr. 2009;21:357–364.
- Kaste SC, Dome JS, Babyn PS, et al. Wilms tumour: prognostic factors, staging, therapy and late effects. Pediatr Radiol. 2008;38:2–17.
- Combaret V, Iacono I, Bellini A, et al. Detection of tumor ALK status in neuroblastoma patients using peripheral blood. Cancer Med. 2015;4:540–550.
- Janoueix-Lerosey I, Lequin D, Brugieres L, et al. Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. Nature. 2008;455:967–970.
- Mosse YP, Laudenslager M, Longo L, et al. Identification of ALK as a major familial neuroblastoma predisposition gene. Nature. 2008;455:930–935.
- Chen Y, Takita J, Choi YL, et al. Oncogenic mutations of ALK kinase in neuroblastoma. Nature. 2008;455:971–974.
- Mano H. ALKoma: a cancer subtype with a shared target. Cancer Discov. 2012;2:495–502.
- Caren H, Abel F, Kogner P, et al. High incidence of DNA mutations and gene amplifications of the ALK gene in advanced sporadic neuroblastoma tumours. Biochem J. 2008;416:153–159.
- Tennstedt P, Strobel G, Bolch C, et al. Patterns of ALK expression in different human cancer types. J Clin Pathol. 2014;67:477–481.
- Karakus E, Emir S, Kacar A, et al. Anaplastic lymphoma kinase gene expression in small round cell tumors of childhood—a comparative immunohistochemical study. Ann Diagn Pathol. 2015;19:239–242.
- Romania P, Castellano A, Surace C, et al. High-resolution array CGH profiling identifies Na/K transporting ATPase interacting 2 (NKAIN2) as a predisposing candidate gene in neuroblastoma. PLoS ONE. 2013;8:e78481.
- Pugh TJ, Morozova O, Attiyeh EF, et al. The genetic landscape of high-risk neuroblastoma. Nat Genet. 2013;45:279–284.
- Capasso M, Devoto M, Hou C, et al. Common variations in BARD1 influence susceptibility to high-risk neuroblastoma. Nat Genet. 2009;41:718–723.
- He J, Zhang R, Zou Y, et al. Evaluation of GWAS-identified SNPs at 6p22 with neuroblastoma susceptibility in a Chinese population. Tumour Biol. 2016;37(2):1635–1639.
- Capasso M, Diskin SJ, Totaro F, et al. Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility. Carcinogenesis. 2013;34:605–611.
- Turnbull C, Perdeaux ER, Pernet D, et al. A genome-wide association study identifies susceptibility loci for Wilms tumor. Nat Genet. 2012;44:681–684.
- Scott RH, Douglas J, Baskcomb L, et al. Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor. Nat Genet. 2008;40:1329–1334.
- Shuman C, Beckwith JB, Smith AC, et al. Beckwith-Wiedemann syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews(R). Seattle, WA: University of Washington, Seattle; 1993–2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1394/.
- Al-Hussain T, Ali A, Akhtar M. Wilms tumor: an update. Adv Anat Pathol. 2014;21:166–173.
- Slade I, Bacchelli C, Davies H, et al. DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. J Med Genet. 2011;48:273–278.
- Lahtz C, Pfeifer GP. Epigenetic changes of DNA repair genes in cancer. J Mol Cell Biol. 2011;3:51–58.
- Karahan B, Argon A, Yildirim M, et al. Relationship between MLH-1, MSH-2, PMS-2,MSH-6 expression and clinicopathological features in colorectal cancer. Int J Clin Exp Pathol. 2015;8:4044–4053.
- Shen C, Houghton PJ. Targeting FANCD2 for therapy sensitization. Oncotarget. 2014;5:3426–3427.
- Howlett NG. Fanconi anemia: Fanconi anemia, breast and embryonal cancer risk revisited. Eur J Hum Genet. 2007;15:715–717.
- Kee Y, D'Andrea AD. Molecular pathogenesis and clinical management of Fanconi anemia. J Clin Invest. 2012;122:3799–3806.
- Boisvert RA, Howlett NG. The Fanconi anemia ID2 complex: dueling saxes at the crossroads. Cell Cycle. 2014;13:2999–3015.
- Zhang J, Walsh MF, Wu G, et al. Germline mutations in predisposition genes in pediatric cancer. N Engl J Med. 2015;373:2336–2346.
- Sarin YK, Thakkar NC, Sinha S. Synchronous ipsilateral Wilms' tumor and neuroblastoma in an infant. APSP J Case Rep. 2016;7(1):2.
- Ito F, Watanabe Y, Ito T. Synchronous occurrence of Wilms tumor and ganglioneuroblastoma in a child with neurofibromatosis. Eur J Pediatr Surg. 1997;7:308–310.
- Compostella A, Toffolutti T, Soloni P, et al. Multiple synchronous tumors in a child with Fanconi anemia. J Pediatr Surg. 2010;45:e5–e8.
- Abbaszadeh F, Barker KT, McConville C, et al. A new familial cancer syndrome including predisposition to Wilms tumor and neuroblastoma. Fam Cancer. 2010;9:425–430.
- Wu MK, Sabbaghian N, Xu B, et al. Biallelic DICER1 mutations occur in Wilms tumours. J Pathol. 2013;230:154–164.
- Serra A, Eirich K, Winkler AK, et al. Shared copy number variation in simultaneous nephroblastoma and neuroblastoma due to Fanconi anemia. Mol Syndromol. 2012;3:120–130.
- Berdasco M, Ropero S, Setien F, et al. Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma. Proc Natl Acad Sci U S A. 2009;106:21830–21835.
- Andrade RC, Cardoso LC, Ferman SE, et al. Association of TP53 polymorphisms on the risk of Wilms tumor. Pediatr Blood Cancer. 2014;61:436–441.
- Stoica GE, Kuo A, Powers C, et al. Midkine binds to anaplastic lymphoma kinase (ALK) and acts as a growth factor for different cell types. J Biol Chem. 2002;277:35990–35998.
- Okubo J, Takita J, Chen Y, et al. Aberrant activation of ALK kinase by a novel truncated form ALK protein in neuroblastoma. Oncogene. 2012;31:4667–4676.
- Schleiermacher G, Janoueix-Lerosey I, Delattre O. Recent insights into the biology of neuroblastoma. Int J Cancer. 2014;135:2249–2261.
- Bourdeaut F, Ferrand S, Brugieres L, et al. ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome. Eur J Hum Genet. 2012;20:291–297.
- Devoto M, Specchia C, Laudenslager M, et al. Genome-wide linkage analysis to identify genetic modifiers of ALK mutation penetrance in familial neuroblastoma. Hum Hered. 2011;71:135–139.
- Kennedy RD, D'Andrea AD. DNA repair pathways in clinical practice: lessons from pediatric cancer susceptibility syndromes. J Clin Oncol. 2006;24:3799–3808.
- Smetsers S, Muter J, Bristow C, et al. Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma. Fam Cancer. 2012;11:661–665.
- Kalb R, Neveling K, Hoehn H, et al. Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype. Am J Hum Genet. 2007;80:895–910.
- Houghtaling S, Timmers C, Noll M, et al. Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice. Genes Dev. 2003;17:2021–2035.
- Borriello A, Locasciulli A, Bianco AM, et al. A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia. Leukemia. 2007;21:72–78.
- Meindl A, Hellebrand H, Wiek C, et al. Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet. 2010;42:410–414.
- Ellis NA, Offit K. Heterozygous mutations in DNA repair genes and hereditary breast cancer: a question of power. PLoS Genet. 2012;8:e1003008.
- Reid S, Schindler D, Hanenberg H, et al. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet. 2007;39:162–164.
- Rahman N, Seal S, Thompson D, et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet. 2007;39:165–167.
- Park SL, Caberto CP, Lin Y, et al. Association of cancer susceptibility variants with risk of multiple primary cancers: the population architecture using genomics and epidemiology study. Cancer Epidemiol Biomarkers Prev. 2014;23:2568–2578.