RAS signaling dysregulation in human embryonal rhabdomyosarcoma

Genes Chromosomes and Cancer

Volumn 48, Issue 11, 2009, Pages 975-982

  Martinelli, Simone ^a   McDowell, Heather P ^b,c   Delle Vigne, Silvia ^a   Kokai, George ^c   Uccini, Stefania ^b   Tartaglia, Marco ^a   Dominici, Carlo ^b,d,e  

^a ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c ALDER HEY CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e UNIVERSITY OF LIVERPOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; MITOGEN ACTIVATED PROTEIN KINASE KINASE; PROTEIN TYROSINE PHOSPHATASE SHP 2;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EMBRYONAL RHABDOMYOSARCOMA; FEMALE; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE; HUMAN; HUMAN CELL; INFANT; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; OUTCOME ASSESSMENT; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; CELL LINE, TUMOR; CHILD; FEMALE; HUMANS; KAPLAN-MEIERS ESTIMATE; MALE; MAP KINASE KINASE 1; MAP KINASE KINASE 2; MUTATION; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 1; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS B-RAF; RAS PROTEINS; RHABDOMYOSARCOMA, EMBRYONAL; SIGNAL TRANSDUCTION;

EID: 70349310228     PISSN: 10452257     EISSN: 10982264     Source Type: Journal    
DOI: 10.1002/gcc.20702     Document Type: Article

References (53)

1. Barr FG, Chatten J, D'Cruz CM, Wilson AE, Nauta LE, Nycum LM, Biegel JA, Worner RB. 1995. Molecular assays for chromosomal translocations in the diagnosis of pediatric soft tissue sarcomas. J Am Med Assoc 273:553-557.
2. Billadeau D, Liu P, Jelinek D, Shah N, LeBien TW, Van Ness B. 1997. Activating mutations in the N- and K-ras oncogenes differentially affect the growth properties of the IL-6-dependent myeloma cell line ANBL6. Cancer Res 57:2268-2275. (Pubitemid 27247048)
3. Bos, JL. 1989. RAS oncogenes in human cancer: A review. Cancer Res 49:4682-4689. (Pubitemid 19213607)
4. Brose MS, Volpe P, Feldman M, Kumar M, Rishi I, Gerrero R, Einhorn E, Herlyn M, Minna J, Nicholson A, Roth JA, Albelda SM, Davies H, Cox C, Brignell G, Stephens P, Futreal PA, Wooster R, Stratton MR, Weber BL. 2002. BRAF and RAS mutations in human lung cancer and melanoma. Cancer Res 62:6997-7000. (Pubitemid 35424092)
5. Carli M, Colombatti R, Oberlin O, Bisogno G, Treuner J, Koscielniak E, Tridello G, Garaventa A, Pinkerton R, Stevens M. 2004. European intergroup studies (MMT4-89 and MMT4-91) on childhood metastatic rhabdomyosarcoma: Final results and analysis of prognostic factors. J Clin Oncol 22:4787-4794. (Pubitemid 41185090)
6. Cerottini JP, Caplin S, Saraga E, Givel JC, Benhattar J. 1998. The type of K-ras mutation determines prognosis in colorectal cancer. Am J Surg 175:198-202. (Pubitemid 28173710)
7. Ciarapica R, Russo G, Verginelli F, Raimondi L, Donfrancesco A, Rota R, Giordano A. 2009. Deregulated expression of miR-26a and Ezh2 in rhabdomyosarcoma. Cell Cycle 8:172-175.
8. Chardin P, Yeramian P, Madaule P, Tavitian A. 1985. N-RAS gene activation in the RD human rhabdomyosarcoma cell line. Int J Cancer 35:647-652. (Pubitemid 15019802)
9. Chen Y, Takita J, Hiwatari M, Igarashi T, Hanada R, Kikuchi A, Hongo T, Taki T, Ogasawara M, Shimada A, Hayashi Y. 2006. Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies. Genes Chromosomes Cancer 45:583-591. (Pubitemid 43727165)
10. Dee K, Freer M, Mei Y, Weyman CM. 2002. Apoptosis coincident with the differentiation of skeletal myoblasts is delayed by caspase 3 inhibition and abrogated by MEK-independent constitutive Ras signaling. Cell Death Differ 9:209-218. (Pubitemid 34144780)
11. Dentici ML, Sarkozy A, Pantaleoni F, Carta C, Lepri F, Ferese R, Cordeddu V, Martinelli S, Briuglia S, Digilio MC, Zampino G, Tartaglia M, Dallapiccola B. 2009. Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype -phenotype correlations. Eur J Hum Genet 17:733-740.
12. Der CJ, Finkel T, Cooper GM. 1986. Biological and biochemical properties of human rasH genes mutated at codon 61. Cell 44:167-176. (Pubitemid 16036724)
13. Donovan S, Shannon KM, Bollag G. 2002. GTPase activating proteins: Critical regulators of intracellular signaling. Biochim Biophys Acta 1602:23-45. (Pubitemid 34311898)
14. Ferrari A, Bisogno G, Casanova M, Meazza C, Piva L, Cecchetto G, Zanetti I, Pilz T, Mattke A, Treuner J, Carli M. 2002. Paratesticular rhabdomyosarcoma: Report from the Italian and German Cooperative Group. J Clin Oncol 20:449-455. (Pubitemid 34072528)
15. Garcia-Rostan G, Zhao H, Camp RL, Pollan M, Herrero A, Pardo J, Wu R, Carcangiu ML, Costa J, Tallini G. 2003. ras mutations are associated with aggressive tumor phenotypes and poor prognosis in thyroid cancer. J Clin Oncol 21:3226-3235. (Pubitemid 46606254)
16. Gurney JG, Young JL, Jr., Roffers SD, Smith MA, Bunin GR. 1999. Soft tissue sarcomas. In: Ries LAG, Smith MA, Gurney JG, Linet M, Tamra T, Young JL, Bunin GR, editors. Cancer Incidence and Survival among Children and Adolescents: United States SEER Program 1975-1995, SEER Program 99- 4649. Bethesda: National Cancer Institute, pp. 111-124.
17. Herrmann C. 2003. Ras-effector interactions: After one decade. Curr Opin Struct Biol 13:122-129.
18. Hof P, Pluskey S, Dhe-Paganon S, Shoelson SE. 1998. Crystal structure of the tyrosine phosphatase SHP-2. Cell 92:441-450. (Pubitemid 28101108)
19. Kalakonda N, Rothwell DG, Scarffe JH, Norton JD. 2001. Detection of N-Ras codon 61 mutations in subpopulations of tumor cells in multiple myeloma at presentation. Blood 98:1555-1560.
20. Kiyoi H, Naoe T, Nakano Y, Yokota S, Minami S, Miyawaki S, Asou N, Kuriyama K, Jinnai I, Shimazaki C, Akiyama H, Saito K, Oh H, Motoji T, Omoto E, Saito H, Ohno R, Ueda R. 1999. Prognostic implication of FLT3 and N-RAS gene mutations in acute myeloid leukemia. Blood 93:3074-3080. (Pubitemid 29200800)
21. Konieczny SF, Drobes BL, Menke SL, Taparowsky EJ. 1989. Inhibition of myogenic differentiation by the H-ras oncogene is associated with the down regulation of the MyoD1 gene. Oncogene 4:473-481.
22. Kratz CP, Steinemann D, Niemeyer CM, Schlegelberger B, Koscielniak E, Kontny U, Zenker M. 2007. Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: Lessons from Costello syndrome. Hum Mol Genet 16:374-379. (Pubitemid 46323174)
23. Langenau DM, Keefe MD, Storer NY, Guyon JR, Kutok JL, Le X, Goessling W, Neuberg DS, Kunkel LM, Zon LI. 2007. Effects of RAS on the genesis of embryonal rhabdomyosarcoma. Genes Dev. 21:1382-1395.
24. Lassar AB, Thayer MJ, Overell RW, Weintraub H. 1989. Transformation by activated ras or fos prevents myogenesis by inhibiting expression of MyoD1. Cell 58:659-667. (Pubitemid 19210960)
25. Lollini PL, De Giovanni C, Landuzzi L, Nicoletti G, Scotlandi K, Nanni P. 1991. Reduced metastatic ability of in vitro differentiated human rhabdomyosarcoma cells. Invasion Metastasis 11:116-124.
26. Martinelli S, Carta C, Flex E, Binni F, Lucci Cordisco E, Moretti S, Puxeddu E, Tonacchera M, Pinchera A, McDowell HP, Dominaci C, Rosolen A, Di Rocco C, Riccardi R, Celli P, Picardo M, Genuardi M, Grammatico P, Sorcini M, Tartaglia M. 2006. Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors. Cancer Genet Cytogenet 166:124-129.
27. Maurer HM, Beltangady M, Gehan EA, Crist W, Hammond D, Hays DM, Heyn R, Lawrence W, Newton W, Ortega J, Ragab AH, Raney B, Ruymann FB, Soule E, Tefft M, Webber B, Eharam M, Vietti TJ. 1988. The Intergroup Rhabdomyosarcoma Study I: A final report. Cancer 61:209-220. (Pubitemid 18056471)
28. McDowell HP. 2003. Update on childhood rhabdomyosarcoma. Arch Dis Child 88:354-357.
29. McDowell HP, Meco D, Riccardi A, Tanno B, Berardi AC, Raschellà G, Riccardi R, Dominici C. 2007. Imatinib mesylate potentiates topotecan antitumour activity in rhabdomyosarcoma preclinical models. Int J Cancer 120:1141-1149. (Pubitemid 46214319)
30. Miao J, Kusafuka T, Fukuzawa M. 2004. Hotspot mutations of BRAF gene are not associated with pediatric solid neoplasms. Oncol Rep 12:1269-1272.
31. Mitin N, Rossman KL, Der CJ. 2005. Signaling interplay in Ras superfamily function. Curr Biol 15:563-574.
32. Nelson HH, Christiani DC, Wiencke JK, Mark EJ, Wain JC, Kelsey KT. 1999. Implications and prognostic value of K-ras mutation for early-stage lung cancer in women. J Natl Cancer Inst 91:2032-2038.
33. Ohali A, Avigad S, Naumov I, Goshen Y, Ash S, Yaniv I. 2008. Different telomere maintenance mechanisms in alveolar and embryonal rhabdomyosarcoma. Genes Chromosomes Cancer 47:965-970.
34. Parham DM, Ellison DA. 2006. Rhabdomyosarcomas in adults and children: An update. Arch Pathol Lab Med 130:1454-1465.
35. Patton RB, Horn RC, Jr. 1962. Rhabdomyosarcoma: Clinical and pathological features and comparison with human fetal and embryonal skeletal muscle. Surgery 52:572-584.
36. Reed N, Gutmann DH. 2001. Tumorigenesis in neurofibromatosis: New insights and potential therapies. Trends Mol Med 7:157-162. (Pubitemid 32280374)
37. Sarkozy A, Carta C, Moretti S, Zampino G, Digilio MC, Pantaleoni F, Scioletti AP, Esposito G, Cordeddu V, Lepri F, Petrangeli V, Dentici ML, Mancini GM, Selicorni A, Rossi C, Mazzanti L, Marino B, Ferrero GB, Silengo MC, Memo L, Stanzial F, Faravelli F, Stuppia L, Puxeddu E, Gelb BD, Dallapiccola B, Tartaglia M. 2009. Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum. Hum Mutat 30:695-702.
38. Stevens M, Rey A, Bouvet N, Ellershaw C, Flamant F, Habrand JL, Marsden HB, Martelli H, Sanchez de Toledo J, Spicer RD, Spooner D, Terrier-Lacombe MJ, van Unnik A, Oberlin O. 2005. Treatment of nonmetastatic rhabdomyosarcoma in childhood and adolescence: Third study of the International Society of Paediatric Oncology-SIOP Malignant Mesenchymal Tumor 89. J Clin Oncol 23:2618-2628. (Pubitemid 46179450)
39. Subramanian S, Lui WO, Lee CH, Espinosa I, Nielsen TO, Heinrich MC, Corless CL, Fire AZ, van de Rijn M. 2008. MicroRNA expression signature of human sarcomas. Oncogene 27:2015-2026.
40. Stratton MR, Fisher C, Gusterson BA, Cooper CS. 1989. Detection of point mutations in N-ras and K-ras genes of human embryonal rhabdomyosarcomas using oligonucleotide probes and the polymerase chain reaction. Cancer Res 49:6324-6327. (Pubitemid 20000931)
41. Tartaglia M, Gelb BD. 2005. Germ-line and somatic PTPN11 mutations in human disease. Eur J Med Genet 48:81-96. (Pubitemid 40692207)
42. Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD. 2001. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29:465-468. (Pubitemid 34326699)
43. Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola D, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD. 2002. PTPN11 mutations in Noonan syndrome: Molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 70:1555-1563. (Pubitemid 34533902)
44. Tartaglia M, Niemeyer CM, Fragale A, Song X, Buechner J, Jung A, Hahlen K, Hasle H, Licht JD, Gelb DB. 2003. Somatic PTPN11 mutations in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet 34:148-150. (Pubitemid 36666923)
45. Tartaglia M, Martinelli S, Cazzaniga G, Cordeddu V, Iavarone I, Spinelli M, Palmi C, Carta C, Pession A, Aricò M, Masera G, Basso G, Sorcini M, Biondi A. 2004. Genetic evidence for lineage- and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia. Blood 104:307-313. (Pubitemid 38900008)
46. Tartaglia M, Martinelli S, Stella L, Bocchinfuso G, Flex E, Cordeddu V, Zampino G, van der Burgt I, Palleschi A, Petrucci TC, Sorcini M, Schoch C, Foà R, Emanuel PD, Gelb BD. 2006. Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Am J Hum Genet 78:279-290. (Pubitemid 43157567)
47. Trahey M, McCormick F. 1987. A cytoplasmic protein stimulates normal N-ras p21 GTPase, but does not affect oncogenic mutants. Science 238:542-545. (Pubitemid 17147042)
48. Tsumura H, Yoshida T, Saito H, Imanaka-Yoshida K, Suzuki N. 2006. Cooperation of oncogenic K-ras and p53 deficiency in pleomorphic rhabdomyosarcoma development in adult mice. Oncogene 25:7673-7679. (Pubitemid 44967962)
49. Ugurel S, Thirumaran RK, Bloethner S, Gast A, Sucker A, Mueller- Berghaus J, Rittgen W, Hemminki K, Becker JC, Kumar R, Schadendorf D. 2007. B-RAF and N-RAS mutations are preserved during short time in vitro propagation and differentially impact prognosis. PLoS ONE 2:e236.
50. Wilke W, Maillet M, Robinson R. 1993. H-ras-1 point mutations in soft tissue sarcomas. Mod Pathol 6:129-132.
51. Xia SJ, Pressey JG, Barr FG. 2002. Molecular pathogenesis of rhabdomyosarcoma. Cancer Biol Ther 1:97-104.
52. Xing M. 2005. BRAF mutation in thyroid cancer. Endocrinol Relat Cancer 12:245-262.
53. Yoo J, Robinson RA, Lee JY. 1999. H-ras and K-ras gene mutations in primary human soft tissue sarcoma: Concomitant mutations of the ras genes. Mod Pathol 12:775-780. (Pubitemid 29383880)