Ras/MAPK syndromes and childhood hemato-oncological diseases

International Journal of Hematology

Volumn 97, Issue 1, 2013, Pages 30-36

  Aoki, Yoko ^a   Matsubara, Yoichi ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

MEK; Oncogene; RAF; RAS; RAS MAPK signaling pathway; RASopathies

Indexed keywords

CALCIUM CALMODULIN DEPENDENT PROTEIN KINASE I; CALCIUM CALMODULIN DEPENDENT PROTEIN KINASE II; H RAS PROTEIN; K RAS PROTEIN; MITOGEN ACTIVATED PROTEIN KINASE; N RAS PROTEIN; PROTEIN; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAS PROTEIN; SHOC2 PROTEIN; SOS PROTEIN; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR 1; UNCLASSIFIED DRUG;

ACUTE LYMPHOBLASTIC LEUKEMIA; ARTERIOVENOUS MALFORMATION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; B CELL LYMPHOMA; BLADDER CARCINOMA; CARDIO FACIO CUTANEOUS SYNDROME; CHILDHOOD DISEASE; COLON CANCER; COSTELLO SYNDROME; DISEASE ASSOCIATION; GENETIC DISORDER; GINGIVA FIBROMATOSIS; GLIOMA; GRANULAR CELL TUMOR; HEMATOLOGIC MALIGNANCY; HEPATOBLASTOMA; HUMAN; JUVENILE MYELOMONOCYTIC LEUKEMIA; LANGERHANS CELL HISTIOCYTOSIS; LEOPARD SYNDROME; MYELOID LEUKEMIA; MYELOPROLIFERATIVE DISORDER; NEUROFIBROMATOSIS; NONHODGKIN LYMPHOMA; NOONAN SYNDROME; RAS MAPK SYNDROME; RHABDOMYOSARCOMA; SERTOLI CELL TUMOR; SOMATIC MUTATION; TESTIS CANCER; TRANSITIONAL CELL CARCINOMA;

ANIMALS; HEMATOLOGIC NEOPLASMS; HUMANS; MITOGEN-ACTIVATED PROTEIN KINASES; MUTATION; PROTO-ONCOGENE PROTEINS P21(RAS); SIGNAL TRANSDUCTION;

EID: 84872924215     PISSN: 09255710     EISSN: 18653774     Source Type: Journal    
DOI: 10.1007/s12185-012-1239-y     Document Type: Article

References (63)

1. van der Burgt I. Noonan syndrome. Orphanet J Rare Dis. 2007;2:4.
2. Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010;126:746-59.
3. Allanson JE, Hall JG, Hughes HE, Preus M, Witt RD. Noonan syndrome: the changing phenotype. Am J Med Genet. 1985;21:507-14. (Pubitemid 15051174)
4. Costello J. A new syndrome. N Z Med J. 1971;74:397.
5. Costello JM. A new syndrome: mental subnormality and nasal papillomata. Aust Paediatr J. 1977;13:114-8. (Pubitemid 8158638)
6. Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y. The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. Hum Mutat. 2008;29:992-1006.
7. Gripp KW, Scott CI Jr, Nicholson L, McDonald-McGinn DM, Ozeran JD, Jones MC, et al. Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. Am J Med Genet. 2002;108:80-7. (Pubitemid 34101389)
8. Reynolds JF, Neri G, Herrmann JP, Blumberg B, Coldwell JG, Miles PV, et al. New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement - the CFC syndrome. Am J Med Genet. 1986;25:413-27. (Pubitemid 16008363)
9. Allanson JE, Anneren G, Aoki Y, Armour CM, Bondeson ML, Cave H, et al. Cardio-facio-cutaneous syndrome: does genotype predict phenotype? Am J Med Genet C Semin Med Genet. 2011;157:129-35.
10. Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, et al. Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet. 2002;71:389-94. (Pubitemid 34800254)
11. Takai Y, Sasaki T, Matozaki T. Small GTP-binding proteins. Physiol Rev. 2001;81:153-208. (Pubitemid 32098004)
12. Tidyman WE, Rauen KA. The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev. 2009;19:230-6.
13. Jamieson CR, van der Burgt I, Brady AF, van Reen M, Elsawi MM, Hol F, et al. Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nat Genet. 1994;8:357-60. (Pubitemid 24375601)
14. van der Burgt I, Berends E, Lommen E, van Beersum S, Hamel B, Mariman E. Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am J Med Genet. 1994;53:187-91. (Pubitemid 24335903)
15. Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet. 2001;29:465-8. (Pubitemid 34326699)
16. Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, Gillessen-Kaesbach G, et al. Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. Eur J Hum Genet. 2003;11:201-6. (Pubitemid 36372396)
17. Niihori T, Aoki Y, Ohashi H, Kurosawa K, Kondoh T, Ishikiriyama S, et al. Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia. J Hum Genet. 2005;50:192-202. (Pubitemid 40685334)
18. Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet. 2002;70:1555-63. (Pubitemid 34533902)
19. Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, et al. Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet. 2005;37:1038-40. (Pubitemid 41486653)
20. Niihori T, Aoki Y, Narumi Y, Neri G, Cave H, Verloes A, et al. Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet. 2006;38:294-6.
21. Rodriguez-Viciana P, Tetsu O, Tidyman WE, Estep AL, Conger BA, Cruz MS, et al. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science. 2006;311:1287-90. (Pubitemid 43334718)
22. Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, et al. A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet. 2010;42:27-9.
23. Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, et al. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet. 2007;39:1007-12. (Pubitemid 47185177)
24. Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R, et al. Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet. 2007;39:1013-7. (Pubitemid 47185179)
25. Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, et al. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet. 2007;39:70-4. (Pubitemid 46026503)
26. Schubbert S, Zenker M, Rowe SL, Boll S, Klein C, Bollag G, et al. Germline KRAS mutations cause Noonan syndrome. Nat Genet. 2006;38:331-6.
27. Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, et al. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet. 2007;39:75-9. (Pubitemid 46026504)
28. Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, et al. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet. 2009;41:1022-6.
29. Martinelli S, De Luca A, Stellacci E, Rossi C, Checquolo S, Lepri F, et al. Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet. 2010;87:250-7.
30. Niemeyer CM, Kang MW, Shin DH, Furlan I, Erlacher M, Bunin NJ, et al. Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. Nat Genet. 2010;42:794-800.
31. Perez B, Mechinaud F, Galambrun C, Ben Romdhane N, Isidor B, Philip N, et al. Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia. J Med Genet. 2010;47:686-91.
32. Neel BG, Gu H, Pao L. The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling. Trends Biochem Sci. 2003;28:284-93. (Pubitemid 36776291)
33. Tartaglia M, Gelb BD. Germ-line and somatic PTPN11 mutations in human disease. Eur J Med Genet. 2005;48:81-96. (Pubitemid 40692207)
34. Fragale A, Tartaglia M, Wu J, Gelb BD. Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. Hum Mutat. 2004;23:267-77. (Pubitemid 38337891)
35. Keilhack H, David FS, McGregor M, Cantley LC, Neel BG. Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. J Biol Chem. 2005;280:30984-93. (Pubitemid 41291831)
36. Tartaglia M, Martinelli S, Stella L, Bocchinfuso G, Flex E, Cordeddu V, et al. Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Am J Hum Genet. 2006;78:279-90. (Pubitemid 43157567)
37. Hanna N, Montagner A, Lee WH, Miteva M, Vidal M, Vidaud M, et al. Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1. FEBS Lett. 2006;580:2477-82.
38. Kontaridis MI, Swanson KD, David FS, Barford D, Neel BG. PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. J Biol Chem. 2006;281:6785-92. (Pubitemid 43847615)
39. Kobayashi T, Aoki Y, Niihori T, Cave H, Verloes A, Okamoto N, et al. Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. Hum Mutat. 2010;31:284-94.
40. Ko JM, Kim JM, Kim GH, Yoo HW. PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. J Hum Genet. 2008;53:999-1006.
41. Girisha KM, Lewis LE, Phadke SR, Kutsche K. Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation. Am J Med Genet A. 2010;152A:2861-4.
42. Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, et al. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet. 2007;44:131-5.
43. Garnett MJ, Marais R. Guilty as charged: B-RAF is a human oncogene. Cancer Cell. 2004;6:313-9. (Pubitemid 39361432)
44. Rauen KA, Tidyman WE, Estep AL, Sampath S, Peltier HM, Bale SJ, et al. Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations. Am J Med Genet A. 2010;152A:807-14.
45. Selfors LM, Schutzman JL, Borland CZ, Stern MJ. soc-2 encodes a leucine-rich repeat protein implicated in fibroblast growth factor receptor signaling. Proc Natl Acad Sci USA. 1998;95:6903-8. (Pubitemid 28278079)
46. Rodriguez-Viciana P, Oses-Prieto J, Burlingame A, Fried M, McCormick F. A phosphatase holoenzyme comprised of Shoc2/Sur8 and the catalytic subunit of PP1 functions as an M-Ras effector to modulate Raf activity. Mol Cell. 2006;22:217-30.
47. Komatsuzaki S, Aoki Y, Niihori T, Okamoto N, Hennekam RC, Hopman S, et al. Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies. J Hum Genet. 2010;55:801-9.
48. Denayer E, Peeters H, Sevenants L, Derbent M, Fryns JP, Legius E. NRAS mutations in Noonan syndrome. Mol Syndromol. 2012;3:34-8.
49. Runtuwene V, van Eekelen M, Overvoorde J, Rehmann H, Yntema HG, Nillesen WM, et al. Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects. Dis Model Mech. 2011;4:393-9.
50. Kratz CP, Rapisuwon S, Reed H, Hasle H, Rosenberg PS. Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. Am J Med Genet C Semin Med Genet. 2011;157:83-9.
51. Makita Y, Narumi Y, Yoshida M, Niihori T, Kure S, Fujieda K, et al. Leukemia in Cardio-facio-cutaneous (CFC) syndrome: A patient with a germline mutation in BRAF proto-oncogene. J Pediatr Hematol Oncol. 2007;29:287-90. (Pubitemid 46707505)
52. Ohtake A, Aoki Y, Saito Y, Niihori T, Shibuya A, Kure S, et al. Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome. J Pediatr Hematol Oncol. 2011;33:e342-6.
53. Badalian-Very G, Vergilio JA, Degar BA, MacConaill LE, Brandner B, Calicchio ML, et al. Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood. 2010;116:1919-23.
54. Al-Rahawan MM, Chute DJ, Sol-Church K, Gripp KW, Stabley DL, McDaniel NL, et al. Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome. Am J Med Genet A. 2007;143A:1481-8. (Pubitemid 47051027)
55. Denayer E, Devriendt K, de Ravel T, Van Buggenhout G, Smeets E, Francois I, et al. Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. Genes Chromosomes Cancer. 2010;49:242-52.
56. Abe Y, Aoki Y, Kuriyama S, Kawame H, Okamoto N, Kurosawa K, et al. Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey. Am J Med Genet A. 2012;158A:1083-94.
57. Rauen KA, Banerjee A, Bishop WR, Lauchle JO, McCormick F, McMahon M, et al. Costello and cardio-facio-cutaneous syndromes: moving toward clinical trials in RASopathies. Am J Med Genet C Semin Med Genet. 2011;157:136-46.
58. Chen PC, Wakimoto H, Conner D, Araki T, Yuan T, Roberts A, et al. Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome-associated Sos1 mutation. J Clin Invest. 2010;120:4353-65.
59. Wu X, Simpson J, Hong JH, Kim KH, Thavarajah NK, Backx PH, et al. MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation. J Clin Invest. 2011;121:1009-25.
60. Schuhmacher AJ, Guerra C, Sauzeau V, Canamero M, Bustelo XR, Barbacid M. A mouse model for Costello syndrome reveals an Ang II-mediated hypertensive condition. J Clin Invest. 2008;118:2169-79. (Pubitemid 351872335)
61. Marin TM, Keith K, Davies B, Conner DA, Guha P, Kalaitzidis D, et al. Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation. J Clin Invest. 2011;121:1026-43.
62. Krab LC, de Goede-Bolder A, Aarsen FK, Pluijm SM, Bouman MJ, van der Geest JN, et al. Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: A randomized controlled trial. JAMA. 2008;300:287-94. (Pubitemid 352008645)
63. Takagi M, Shinoda K, Piao J, Mitsuiki N, Matsuda K, Muramatsu H, et al. Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation. Blood. 2011;117:2887-90.