Non-Hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome

Journal of Pediatric Hematology/Oncology

Volumn 33, Issue 8, 2011, Pages

  Ohtake, Akira ^a   Aoki, Yoko ^b   Saito, Yuka ^b   Niihori, Tetsuya ^b   Shibuya, Atsushi ^a   Kure, Shigeo ^b   Matsubara, Yoichi ^b  

^a SAITAMA MEDICAL UNIVERSITY   (Japan)

^b TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

BRAF; cardiofaciocutaneous syndrome; KRAS; leukemia; non Hodgkin lymphoma; Noonan syndrome; RAF; RAS MAPK

Indexed keywords

ALANINE; ASPARAGINASE; B RAF KINASE; CYCLOPHOSPHAMIDE; CYTOSINE; GENOMIC DNA; GUANINE; K RAS PROTEIN; PIRARUBICIN; PREDNISOLONE; PROLINE; VINCRISTINE;

ACUTE LYMPHOBLASTIC LEUKEMIA; ARTICLE; CARDIOFACIOCUTANEOUS SYNDROME; CASE REPORT; CHILD; CLINICAL EVALUATION; CLINICAL FEATURE; CONGENITAL MALFORMATION; CYTOPATHOLOGY; EXON; FACIES; FUNNEL CHEST; GERM LINE; HOSPITAL ADMISSION; HUMAN; INTRON; JAPANESE; MALE; MENTAL DEFICIENCY; MUTATIONAL ANALYSIS; NEVUS; NONHODGKIN LYMPHOMA; NOONAN SYNDROME; PLEURA FLUID; PLEURISY; PNEUMONIA; PRIORITY JOURNAL; PTOSIS; SCHOOL CHILD; SEQUENCE ANALYSIS; SHORT STATURE; VALGUS DEFORMITY; WEBBED NECK;

CHILD; ECTODERMAL DYSPLASIA; FACIES; FAILURE TO THRIVE; HEART DEFECTS, CONGENITAL; HUMANS; INTELLECTUAL DISABILITY; LYMPHOMA, NON-HODGKIN; MALE; PROTO-ONCOGENE PROTEINS B-RAF;

EID: 80455162384     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/MPH.0b013e3181df5e5b     Document Type: Article

References (32)

1. Reynolds JF, Neri G, Herrmann JP, et al. New multiple congenital anomalies/mental retardation syndrome with cardiofacio- cutaneous involvement-the CFC syndrome. Am J Med Genet. 1986;25:413-427.
2. Niihori T, Aoki Y, Narumi Y, et al. Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet. 2006;38:294-296.
3. Wieczorek D, Majewski F, Gillessen-Kaesbach G. Cardiofacio- cutaneous (CFC) syndrome-A distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome. Clin Genet. 1997;52:37-46.
4. Narumi Y, Aoki Y, Niihori T, et al. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome. Am J Med Genet A. 2007;143A:799-807.
5. Aoki Y, Niihori T, Kawame H, et al. Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet. 2005;37:1038-1040.
6. Tartaglia M, Pennacchio LA, Zhao C, et al. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet. 2007;39:75-79.
7. Tartaglia M, Mehler EL, Goldberg R, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet. 2001;29:465-468.
8. Roberts AE, Araki T, Swanson KD, et al. Germline gainof- function mutations in SOS1 cause Noonan syndrome. Nat Genet. 2007;39:70-74.
9. Razzaque MA, Nishizawa T, Komoike Y, et al. Germline gainof- function mutations in RAF1 cause Noonan syndrome. Nat Genet. 2007;39:1013-1017.
10. Pandit B, Sarkozy A, Pennacchio LA, et al. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet. 2007;39:1007-1012.
11. Schubbert S, Zenker M, Rowe SL, et al. Germline KRAS mutations cause Noonan syndrome. Nat Genet. 2006;38: 331-336.
12. Cirstea IC, Kutsche K, Dvorsky R, et al. A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet. 2010;42:27-29.
13. Rodriguez-Viciana P, Tetsu O, Tidyman WE, et al. Germline mutations in genes within the MAPK pathway cause cardiofacio- cutaneous syndrome. Science. 2006;311:1287-1290.
14. Bentires-Alj M, Kontaridis MI, Neel BG. Stops along the RAS pathway in human genetic disease. Nat Med. 2006;12:283-285.
15. Aoki Y, Niihori T, Narumi Y, et al. The RAS/MAPK syndromes: Novel roles of the RAS pathway in human genetic disorders. Hum Mutat. 2008;29:992-1006.
16. Gripp KW, Scott CI Jr, Nicholson L, et al. Five additional Costello syndrome patients with rhabdomyosarcoma: Proposal for a tumor screening protocol. Am J Med Genet. 2002;108: 80-87.
17. van Den Berg H, Hennekam RC. Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome. J Med Genet. 1999;36:799-800.
18. Makita Y, Narumi Y, Yoshida M, et al. Leukemia in Cardiofacio- cutaneous (CFC) syndrome: A patient with a germline mutation in BRAF proto-oncogene. J Pediatr Hematol Oncol. 2007;29:287-290.
19. Al-Rahawan MM, Chute DJ, Sol-Church K, et al. Hepatoblastoma and heart transplantation in a patient with cardiofacio- cutaneous syndrome. Am J Med Genet A. 2007;143A: 1481-1488.
20. Smock KJ, Nelson M, Tripp SR, et al. Characterization of childhood precursor T-lymphoblastic lymphoma by immunophenotyping and fluorescent in situ hybridization: A report from the Children's Oncology Group. Pediatr Blood Cancer. 2008;51:489-494.
21. Mann G, Attarbaschi A, Burkhardt B, et al. Clinical characteristics and treatment outcome of infants with non-Hodgkin lymphoma. Br J Haematol. 2007;139:443-449.
22. Lee JW, Yoo NJ, Soung YH, et al. BRAF mutations in non- Hodgkin's lymphoma. Br J Cancer. 2003;89:1958-1960.
23. Lee JW, Soung YH, Park WS, et al. BRAF mutations in acute leukemias. Leukemia. 2004;18:170-172.
24. Gustafsson B, Angelini S, Sander B, et al. Mutations in the BRAF and N-ras genes in childhood acute lymphoblastic leukaemia. Leukemia. 2005;19:310-312.
25. Velangi M, Matheson E, Taylor P, et al. BRAF gene is not mutated in mismatch repair-proficient or -deficient plasma cell dyscrasias. Leukemia. 2004;18:658-659.
26. Ng MH, Lau KM, Wong WS, et al. Alterations of RAS signalling in Chinese multiple myeloma patients: Absent BRAF and rare RAS mutations, but frequent inactivation of RAS SF1A by transcriptional silencing or expression of a non-functional variant transcript. Br J Haematol. 2003;123:637-645.
27. Christiansen DH, Andersen MK, Desta F, et al. Mutations of genes in the receptor tyrosine kinase (RTK)/RAS-BRAF signal transduction pathway in therapy-related myelodysplasia and acute myeloid leukemia. Leukemia. 2005;19:2232-2240.
28. Davidsson J, Lilljebjorn H, Panagopoulos I, et al. BRAF mutations are very rare in B- and T-cell pediatric acute lymphoblastic leukemias. Leukemia. 2008;22:1619-1621.
29. Case M, Matheson E, Minto L, et al. Mutation of genes affecting the RAS pathway is common in childhood acute lymphoblastic leukemia. Cancer Res. 2008;68:6803-6809.
30. Smith ML, Snaddon J, Neat M, et al. Mutation of BRAF is uncommon in AML FAB type M1 and M2. Leukemia. 2003; 17:274-275.
31. de Vries AC, Stam RW, Kratz CP, et al. Mutation analysis of the BRAF oncogene in juvenile myelomonocytic leukemia. Haematologica. 2007;92:1574-1575.
32. Komeno Y, Kitaura J, Kitamura T. Molecular bases of myelodysplastic syndromes: Lessons from animal models. J Cell Physiol. 2009;219:529-534.