Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 157, Issue 2, 2011, Pages 83-89

  Kratz, Christian P ^a   Rapisuwon, Suthee ^b   Reed, Helen ^c   Hasle, Henrik ^d   Rosenberg, Philip S ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b National Cancer Institute's Clinical Genetics   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Cancer risk; Mortality; RASopathies

Indexed keywords

ACUTE GRANULOCYTIC LEUKEMIA; ACUTE LYMPHOBLASTIC LEUKEMIA; ADOLESCENT; ADULT; AGED; ARTICLE; BILE DUCT CANCER; BLADDER CANCER; BREAST CANCER; CANCER INCIDENCE; CANCER MORTALITY; CANCER RISK; CARDIOFACIOCUTANEOUS SYNDROME; CHILD; CHRONIC LYMPHATIC LEUKEMIA; CHRONIC MYELOMONOCYTIC LEUKEMIA; COLON CANCER; COLON CARCINOMA; COSTELLO SYNDROME; DISEASE ASSOCIATION; FIBROSARCOMA; GENE MUTATION; GLIOMA; HEPATOBLASTOMA; HODGKIN DISEASE; HUMAN; INFANT; LEOPARD SYNDROME; MAJOR CLINICAL STUDY; MALIGNANT NEURILEMOMA; MELANOMA; MULTIPLE MALFORMATION SYNDROME; MYELOPROLIFERATIVE DISORDER; NEOPLASM; NEUROBLASTOMA; NONHODGKIN LYMPHOMA; NOONAN SYNDROME; PILOCYTIC ASTROCYTOMA; PRESCHOOL CHILD; PRIORITY JOURNAL; RHABDOMYOSARCOMA; SCHOOL CHILD; SOMATIC MUTATION; TESTIS CANCER;

COSTELLO SYNDROME; ECTODERMAL DYSPLASIA; FACIES; FAILURE TO THRIVE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HEART DEFECTS, CONGENITAL; HUMANS; LEOPARD SYNDROME; MUTATION; NEOPLASMS; NOONAN SYNDROME; PROTO-ONCOGENE PROTEINS P21(RAS); SIGNAL TRANSDUCTION;

EID: 79955043471     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30300     Document Type: Article

References (32)

1. Alter BP, Giri N, Savage SA, Rosenberg PS. 2009. Cancer in dyskeratosis congenita. Blood 113: 6549-6557.
2. Bader-Meunier B, Tchernia G, Mielot F, Fontaine JL, Thomas C, Lyonnet S, Lavergne JM, Dommergues JP. 1997. Occurrence of myeloproliferative disorder in patients with Noonan syndrome. J Pediatr 130: 885-889.
3. Bentires-Alj M, Paez JG, David FS, Keilhack H, Halmos B, Naoki K, Maris JM, Richardson A, Bardelli A, Sugarbaker DJ, Richards WG, Du J, Girard L, Minna JD, Loh ML, Fisher DE, Velculescu VE, Vogelstein B, Meyerson M, Sellers WR, Neel BG. 2004. Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia. Cancer Res 64: 8816-8820.
4. Case M, Matheson E, Minto L, Hassan R, Harrison CJ, Bown N, Bailey S, Vormoor J, Hall AG, Irving JA. 2008. Mutation of genes affecting the RAS pathway is common in childhood acute lymphoblastic leukemia. Cancer Res 68: 6803-6809.
5. Chantrain CF, Jijon P, De Raedt T, Vermylen C, Poirel HA, Legius E, Brichard B. 2007. Therapy-related acute myeloid leukemia in a child with Noonan syndrome and clonal duplication of the germline PTPN11 mutation. Pediatr Blood Cancer 48: 101-104.
6. Downward J. 2006. Signal transduction. Prelude to an anniversary for the RAS oncogene. Science 314: 433-434.
7. Gripp KW. 2005. Tumor predisposition in Costello syndrome. Am J Med Genet C Semin Med Genet 137C: 72-77.
8. Gripp KW, Scott CI Jr, Nicholson L, McDonald-McGinn DM, Ozeran JD, Jones MC, Lin AE, Zackai EH. 2002. Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. Am J Med Genet 108: 80-87.
9. Hasle H. 2009. Malignant diseases in Noonan syndrome and related disorders. Horm Res 72: 8-14.
10. Jebar AH, Hurst CD, Tomlinson DC, Johnston C, Taylor CF, Knowles MA. 2005. FGFR3 and Ras gene mutations are mutually exclusive genetic events in urothelial cell carcinoma. Oncogene 24: 5218-5225.
11. Jones DT, Kocialkowski S, Liu L, Pearson DM, Backlund LM, Ichimura K, Collins VP. 2008. Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas. Cancer Res 68: 8673-8677.
12. Karow A, Steinemann D, Gohring G, Hasle H, Greiner J, Harila-Saari A, Flotho C, Zenker M, Schlegelberger B, Niemeyer CM, Kratz CP. 2007. Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome. Leukemia 21: 1303-1305.
13. Kratz C. 2009. Myeloproliferative disease and cancer in persons with Noonan syndrome and related disorders. In: Zenker M, editor. Noonan syndrome and related disorders: A matter of deregulated Ras signaling. Basel: Karger. pp 119-127.
14. Kratz CP, Niemeyer CM, Castleberry RP, Cetin M, Bergstrasser E, Emanuel PD, Hasle H, Kardos G, Klein C, Kojima S, Stary J, Trebo M, Zecca M, Gelb BD, Tartaglia M, Loh ML. 2005. The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. Blood 106: 2183-2185.
15. 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.
16. Makishima H, Cazzolli H, Szpurka H, Dunbar A, Tiu R, Huh J, Muramatsu H, O'Keefe C, Hsi E, Paquette RL, Kojima S, List AF, Sekeres MA, McDevitt MA, Maciejewski JP. 2009. Mutations of e3 ubiquitin ligase cbl family members constitute a novel common pathogenic lesion in myeloid malignancies. J Clin Oncol 27: 6109-6116.
17. Martinelli S, McDowell HP, Vigne SD, Kokai G, Uccini S, Tartaglia M, Dominici C. 2009. RAS signaling dysregulation in human embryonal Rhabdomyosarcoma. Genes Chromosomes Cancer 48: 975-982.
18. Martinelli S, De Luca A, Stellacci E, Rossi C, Checquolo S, Lepri F, Caputo V, Silvano M, Buscherini F, Consoli F, Ferrara G, Digilio MC, Cavaliere ML, van Hagen JM, Zampino G, van der Burgt I, Ferrero GB, Mazzanti L, Screpanti I, Yntema HG, Nillesen WM, Savarirayan R, Zenker M, Dallapiccola B, Gelb BD, Tartaglia M. 2010. Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet 87: 250-257.
19. Moley JF, Brother MB, Wells SA, Spengler BA, Biedler JL, Brodeur GM. 1991. Low frequency of ras gene mutations in neuroblastomas, pheochromocytomas, and medullary thyroid cancers. Cancer Res 51: 1596-1599.
20. Niemeyer CM, Kang MW, Shin DH, Furlan I, Erlacher M, Bunin NJ, Bunda S, Finklestein JZ, Sakamoto KM, Gorr TA, Mehta P, Schmid I, Kropshofer G, Corbacioglu S, Lang PJ, Klein C, Schlegel PG, Heinzmann A, Schneider M, Stary J, van den Heuvel-Eibrink MM, Hasle H, Locatelli F, Sakai D, Archambeault S, Chen L, Russell RC, Sybingco SS, Ohh M, Braun BS, Flotho C, Loh ML. 2010. Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. Nat Genet 42: 794-800.
21. Pfister S, Janzarik WG, Remke M, Ernst A, Werft W, Becker N, Toedt G, Wittmann A, Kratz C, Olbrich H, Ahmadi R, Thieme B, Joos S, Radlwimmer B, Kulozik A, Pietsch T, Herold-Mende C, Gnekow A, Reifenberger G, Korshunov A, Scheurlen W, Omran H, Lichter P. 2008. BRAF gene duplication constitutes a mechanism of MAPK pathway activation in low-grade astrocytomas. J Clin Invest 118: 1739-1749.
22. Pizzo PA, Poplack DG. 2001. Principles and practice of pediatric oncology. Philadelphia: Lippincott Williams & Wilkins.
23. Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA. 2010. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics 126: 746-759.
24. Rosenberg PS, Greene MH, Alter BP. 2003. Cancer incidence in persons with Fanconi anemia. Blood 101: 822-826.
25. Schubbert S, Shannon K, Bollag G. 2007. Hyperactive Ras in developmental disorders and cancer. Nat Rev Cancer 7: 295-308.
26. SEER Data 2000-2007. SEER 17 Registries Database from 2000 to 2007
27. Tartaglia M, Gelb BD. 2010. Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms. Ann NY Acad Sci 1214: 99-121.
28. Tartaglia M, Martinelli S, Cazzaniga G, Cordeddu V, Iavarone I, Spinelli M, Palmi C, Carta C, Pession A, Arico M, Masera G, Basso G, Sorcini M, Gelb BD, Biondi A. 2004. Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia. Blood 104: 307-313.
29. Tartaglia M, Martinelli S, Iavarone I, Cazzaniga G, Spinelli M, Giarin E, Petrangeli V, Carta C, Masetti R, Arico M, Locatelli F, Basso G, Sorcini M, Pession A, Biondi A. 2005. Somatic PTPN11 mutations in childhood acute myeloid leukaemia. Br J Haematol 129: 333-339.
30. WHO. 2002. World health organization classification of tumours: Pathology and genetics of tumours of soft tissue and bone. Lyon: IARC Press.
31. WHO. 2007. WHO classification of tumours of the central nervous system. Lyon: IARC Press.
32. Zenker M. 2009. Genetic and pathogenetic aspects of Noonan syndrome and related disorders. Horm Res 72: 57-63.