Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

British Journal of Cancer

Volumn 112, Issue 8, 2015, Pages 1392-1397

  Kratz, C P ^a   Franke, L ^b   Peters, H ^c   Kohlschmidt, N ^d   Kazmierczak, B ^e   Finckh, U ^f   Bier, A ^g   Eichhorn, B ^h   Blank, C ⁱ   Kraus, C ^j   Kohlhase, J ^k   Pauli, S ^l   Wildhardt, G ^m   Kutsche, K ⁿ   Auber, B ^a,o   Christmann, A ^p   Bachmann, N ^q   Mitter, D ^r   Cremer, F W ^s   Mayer, K ^t   Daumer Haas, C ^u   Nevinny Stickel Hinzpeter, C ^v   Oeffner, F ^w   Schluter G ^x   Gencik, M ^y   Uberlacker B ^z   Lissewski, C ^b   Schanze, I ^b   Greene, M H ^aa   Spix, C ^ab   Zenker, M ^b   more..

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d Institut für Klinische Genetik Bonn   (Germany)

^e Praxis für Humangenetik   (Germany)

^f MVZ Labor Dr Eberhard and Partner   (Germany)

^g Gemeinschaftspraxis Fü R Humangenetik   (Germany)

^h Mitteldeutscher Praxisverbund Humangenetik   (Germany)

ⁱ Praenatal Medizin und Genetik   (Germany)

^j UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^k UNIVERSITY OF FREIBURG   (Germany)

^l UNIVERSITY OF GÖTTINGEN   (Germany)

^m Dept of Bio logis   (Germany)

ⁿ UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^o GenteQ   (Germany)

^p Praxis für Humangenetik Homburg   (Germany)

^q Bioscientia Center for Human Genetics   (Germany)

^r UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^s Zentrum Fü R Humangenetik Mannheim   (Germany)

^t Zentrum für Humangenetik und Laboratoriumsdiagnostik MVZ Dr Klein   (Germany)

^u Prä Natal Medizin Mü Nchen   (Germany)

^v Synlab Medizinisches Versorgungszentrum Humane Genetik   (Germany)

^w Genetikum Neu Ulm   (Germany)

^x MVZ   (Germany)

^y Diagenos Practise for Human Genetics   (Germany)

^z Institut Fü R Medizinische Genetik und Molekulare Medizin   (Germany)

^aa NATIONAL CANCER INSTITUTE   (United States)

^ab UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

more..

Author keywords

cancer risk; cancer risk variants; RASopathy

Indexed keywords

B RAF KINASE; K RAS PROTEIN; MITOGEN ACTIVATED PROTEIN KINASE KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE KINASE 2; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAS PROTEIN; SOS PROTEIN; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR 1;

ACUTE LYMPHOBLASTIC LEUKEMIA; ADOLESCENT; ARTICLE; BENIGN TUMOR; BRAIN CANCER; BRAIN TUMOR; CANCER INCIDENCE; CANCER REGISTRY; CANCER RISK; CARDIO FACIO CUTANEOUS SYNDROME; CENTRAL NERVOUS SYSTEM; CHILD; CHILDHOOD CANCER; COSTELLO SYNDROME; DEVELOPMENTAL DISORDER; FEMALE; GENETIC SCREENING; GERMLINE MUTATION; HUMAN; INFANT; JUVENILE MYELOMONOCYTIC LEUKEMIA; MAJOR CLINICAL STUDY; MALE; MALIGNANT NEOPLASTIC DISEASE; NEUROBLASTOMA; NEWBORN; NOONAN SYNDROME; PRIORITY JOURNAL; RHABDOMYOSARCOMA; SIGNAL TRANSDUCTION; CONGENITAL HEART MALFORMATION; ECTODERMAL DYSPLASIA; FACIES; FAILURE TO THRIVE; GENETICS; GERMANY; NEOPLASMS; PATHOLOGY; PRESCHOOL CHILD; REGISTER; RISK FACTOR;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; COSTELLO SYNDROME; ECTODERMAL DYSPLASIA; FACIES; FAILURE TO THRIVE; FEMALE; GERM-LINE MUTATION; GERMANY; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; MALE; NEOPLASMS; NOONAN SYNDROME; RAS PROTEINS; REGISTRIES; RISK FACTORS; SIGNAL TRANSDUCTION;

EID: 84928205738     PISSN: 00070920     EISSN: 15321827     Source Type: Journal    
DOI: 10.1038/bjc.2015.75     Document Type: Article

References (24)

1. Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y (2013) Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet 93(1): 173-180.
2. Flex E, Jaiswal M, Pantaleoni F, Martinelli S, Strullu M, Fansa EK, Caye A, De Luca A, Lepri F, Dvorsky R, Pannone L, Paolacci S, Zhang SC, Fodale V, Bocchinfuso G, Rossi C, Burkitt-Wright EM, Farrotti A, Stellacci E, Cecchetti S, Ferese R, Bottero L, Castro S, Fenneteau O, Brethon B, Sanchez M, Roberts AE, Yntema HG, Van Der Burgt I, Cianci P, Bondeson ML, Cristina Digilio M, Zampino G, Kerr B, Aoki Y, Loh ML, Palleschi A, Di Schiavi E, Care A, Selicorni A, Dallapiccola B, Cirstea IC, Stella L, Zenker M, Gelb BD, Cave H, Ahmadian MR, Tartaglia M (2014) Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis. Hum Mol Genet 23(16): 4315-4327.
3. Gripp KW (2005) Tumor predisposition in Costello syndrome. Am J Med Genet C Semin Med Genet 137C(1): 72-77.
4. Hammer GP, Seidenbusch MC, Schneider K, Regulla DF, Zeeb H, Spix C, Blettner M (2009) A cohort study of childhood cancer incidence after postnatal diagnostic X-ray exposure. Radiat Res 171(4): 504-512.
5. Jongmans MC, van der Burgt I, Hoogerbrugge PM, Noordam K, Yntema HG, Nillesen WM, Kuiper RP, Ligtenberg MJ, van Kessel AG, van Krieken JH, Kiemeney LA, Hoogerbrugge N (2011) Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. Eur J Hum Genet 19(8): 870-874.
6. Kaatsch P (2004) [German Childhood Cancer Registry and its favorable setting]. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 47(5): 437-443.
7. 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(6): 1303-1305.
8. Kerr B, Delrue MA, Sigaudy S, Perveen R, Marche M, Burgelin I, Stef M, Tang B, Eden OB, O'Sullivan J, De Sandre-Giovannoli A, Reardon W, Brewer C, Bennett C, Quarell O, M'Cann E, Donnai D, Stewart F, Hennekam R, Cave H, Verloes A, Philip N, Lacombe D, Levy N, Arveiler B, Black G (2006) Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. J Med Genet 43(5): 401-405.
9. 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(6): 2183-2185.
10. Kratz CP, Rapisuwon S, Reed H, Hasle H, Rosenberg PS (2011) Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. Am J Med Genet C Semin Med Genet 157C(2): 83-89.
11. Laux D, Kratz C, Sauerbrey A (2008) Common acute lymphoblastic leukemia in a girl with genetically confirmed LEOPARD syndrome. J Pediatr Hematol Oncol 30(8): 602-604.
12. 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 syndromelike phenotype. Am J Hum Genet 87(2): 250-257.
13. 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(9): 794-800.
14. Roberts AE, Allanson JE, Tartaglia M, Gelb BD (2013) Noonan syndrome. Lancet 381(9863): 333-342.
15. Saint Pierre A, Genin E (2014) How important are rare variants in common disease Brief Funct Genomics 13(5): 353-361.
16. Schubbert S, Shannon K, Bollag G (2007) Hyperactive Ras in developmental disorders and cancer. Nat Rev Cancer 7(4): 295-308.
17. Schubbert S, Zenker M, Rowe SL, Boll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP (2006) Germline KRAS mutations cause Noonan syndrome. Nat Genet 38(3): 331-336.
18. Selter M, Dresel R, Althaus J, Baz Bartels M, Dittrich S, Geb S, Hoche F, Qirshi M, Vlaho S, Zielen S, Kieslich M (2010) Dysembryoplastic neuroepithelial tumor (DNET) in a patient with Noonan syndrome. Neuropediatrics 41: P1356.
19. Steliarova-Foucher E, Stiller C, Lacour B, Kaatsch P (2005) International Classification of Childhood Cancer, third edition. Cancer 103(7): 1457-1467.
20. Strullu M, Caye A, Lachenaud J, Cassinat B, Gazal S, Fenneteau O, Pouvreau N, Pereira S, Baumann C, Contet A, Sirvent N, Mechinaud F, Guellec I, Adjaoud D, Paillard C, Alberti C, Zenker M, Chomienne C, Bertrand Y, Baruchel A, Verloes A, Cave H (2014) Juvenile myelomonocytic leukaemia and Noonan syndrome. J Med Genet 51(10): 689-697.
21. Tartaglia M, Niemeyer CM, Fragale A, Song X, Buechner J, Jung A, Hahlen K, Hasle H, Licht JD, Gelb BD (2003) Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet 34(2): 148-150.
22. Ucar C, Calyskan U, Martini S, Heinritz W (2006) Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). J Pediatr Hematol Oncol 28(3): 123-125.
23. Yokoyama S, Woods SL, Boyle GM, Aoude LG, MacGregor S, Zismann V, Gartside M, Cust AE, Haq R, Harland M, Taylor JC, Duffy DL, Holohan K, Dutton-Regester K, Palmer JM, Bonazzi V, Stark MS, Symmons J, Law MH, Schmidt C, Lanagan C, O'Connor L, Holland EA, Schmid H, Maskiell JA, Jetann J, Ferguson M, Jenkins MA, Kefford RF, Giles GG, Armstrong BK, Aitken JF, Hopper JL, Whiteman DC, Pharoah PD, Easton DF, Dunning AM, Newton-Bishop JA, Montgomery GW, Martin NG, Mann GJ, Bishop DT, Tsao H, Trent JM, Fisher DE, Hayward NK, Brown KM (2011) A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. Nature 480(7375): 99-103.
24. Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, Korinthenberg R, Kreiss-Nachtsheim M, Meinecke P, Morlot S, Mundlos S, Quante AS, Raskin S, Schnabel D, Wehner LE, Kratz CP, HornD, Kutsche K (2007) Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet 44(2): 131-135.