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Chapter 5 - Molecular genetics of soft tissue tumors

Published online by Cambridge University Press:  19 October 2016

By
Jerzy Lasota
Edited by
Markku Miettinen
Markku Miettinen
Affiliation:
National Cancer Institute, Maryland
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Type
Chapter
Information
Modern Soft Tissue Pathology
Tumors and Non-Neoplastic Conditions
 , pp. 115 - 180
Publisher: Cambridge University Press
Print publication year: 2016

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Wiedemann, H-R. Tumours and hemihypertrophy associated with Wiedemann-Beckwith syndrome. (Letter) Eur J Pediatr 1983;141:129.Google Scholar
Jin, XL, Wang, ZH, Xiao, XB, Huang, LS, Zhao, XY. Blue rubber bleb nevus syndrome: a case report and literature review. World J Gastroenterol 2014;20:17254–17259.Google Scholar
Espiard, S, Bertherat, J. Carney complex. Front Horm Res 2013;41:50–62.Google Scholar
Estep, AL, Tidyman, WE, Teitell, MA, Cotter, PD, Rauen, KA. HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. Am J Med Genet A 2006;140:8–16.Google Scholar
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Eccles, DM, Van Der Luijt, R, Breukel, C, et al. Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. Am J Hum Genet 1996;59:1193–1201.Google Scholar
Scott, RJ, Froggatt, NJ, Trembath, RC, et al. Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3ʹ APC gene mutation. Hum Mol Genet 1996;5:1921–1924.Google Scholar
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Randerson-Moor, JA, Harland, M, Williams, S, et al. A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family. Hum Mol Genet 2001;10:55–62.CrossRefGoogle ScholarPubMed
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Nishida, T, Hirota, S, Taniguchi, M, et al. Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. Nat Genet 1998;19:323–324.Google Scholar
Chompret, A, Kannengiesser, C, Barrois, M, et al. PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor. Gastroenterology 2004;126:318–321.Google Scholar
Ligon, AH, Moore, SD, Parisi, MA, et al. Constitutional rearrangement of the architectural factor HMGA2: a novel human phenotype including overgrowth and lipomas. Am J Hum Genet 2005;76:340–348.Google Scholar
Dryja, TP, Mukai, S, Petersen, R, et al. Parental origin of mutations of the retinoblastoma gene. Nature 1989;339:556–558.Google Scholar
Zhu, XP, Dunn, JM, Phillips, RA, et al. Preferential germline mutation of the paternal allele in retinoblastoma. Nature 1989;340:312–313.Google Scholar
Barbaux, S, Niaudet, P, Gubler, MC, et al. Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet 1997;17:467–470.CrossRefGoogle ScholarPubMed
Pelletier, J, Bruening, W, Kashtan, CE, et al. Germinal mutations in the Wilms’ tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 1991; 67:437–447.Google Scholar
van Heyningen, V, Bickmore, WA, Seawright, A, et al. Role for the Wilms tumor gene in genital development? Proc Natl Acad Sci USA 1990;87:5383–5386.Google Scholar
Ruteshouser, EC, Huff, V. Familial Wilms tumor. Am J Med Genet C Semin Med Genet 2004;129C:29–34.Google Scholar
Brouillard, P, Boon, LM, Mulliken, JB, et al. Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas"). Am J Hum Genet 2002;70:866–874.Google Scholar
Kiuru, M, Launonen, V. Hereditary leiomyomatosis and renal cell cancer (HLRCC). Curr Mol Med 2004;4(8):869–875.Google Scholar
Gardie, B, Remenieras, A, Kattygnarath, D, et al. Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. J Med Genet 2011;48:226–234.Google Scholar
Denadai, R, Raposo-Amaral, CE, Bertola, D, et al. Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system. Am J Med Genet A 2012;158A:732–742.Google Scholar
Li, FP, Fraumeni, JF. Rhabdomyosarcoma in children: epidemiologic study and identification of a cancer family syndrome. J Natl Cancer Inst 1969;43:1365–1373.Google Scholar
Li, FP, Fraumeni, JF. Soft tissue sarcomas, breast cancer and other neoplasms: a familial syndrome? Ann Int Med 1969;71:747–752.Google Scholar
Amary, MF, Damato, S, Halai, D, et al. Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. Nat Genet 2011;43:1262–1265.Google Scholar
Rasmussen, SA, Friedman, JM. NF1 gene and neurofibromatosis 1. Am J Epidemiol 2000;151:33–40.Google Scholar
Gutmann, DH. Molecular insights into neurofibromatosis 2. Neurobiol Dis 1997;3:247–261.Google Scholar
Meyer, S, Kingston, H, Taylor, AM, et al. Rhabdomyosarcoma in Nijmegen breakage syndrome: strong association with perianal primary site. Cancer Genet Cytogenet 2004;154:169–174.Google Scholar
Astuti, D, Latif, F, Dallol, A, et al. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet 2001;69:49–54.Google Scholar
Müller, U. Pathological mechanisms and parent-of-origin effects in hereditary paraganglioma/pheochromocytoma (PGL/PCC). Neurogenetics 2011;12:175–181.Google Scholar
Pasini, B, McWhinney, SR, Bei, T, et al. Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. Eur J Hum Genet 2008;16:79–88.Google Scholar
Miettinen, M, Lasota, J. Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs): a review. Int J Biochem Cell Biol 2014;53:514–519.Google Scholar
Blumenthal, GM, Dennis, PA. PTEN hamartoma tumor syndromes. Eur J Hum Genet 2008;16:1289–1300.Google Scholar
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