Fanconi anemia and solid malignancies in childhood: A national retrospective study

Pediatric Blood and Cancer

Volumn 62, Issue 3, 2015, Pages 463-470

  Malric, Aurore ^a   Defachelles, Anne Sophie ^b   Leblanc, Thierry ^c,d   Lescoeur, Brigitte ^d   Lacour, Brigitte ^e   Peuchmaur, Michel ^d,f   Maurage, Claude Alain ^g   Pierron, Gaëlle ^a   Guillemot, Delphine ^a   d'Enghien, Catherine Dubois ^a   Soulier, Jean ^c,h   Stoppa Lyonnet, Dominique ^a,f,i   Bourdeaut, Franck ^a,i  

^a INSTITUT CURIE   (France)

^b CENTRE OSCAR LAMBRET   (France)

^c SAINT LOUIS HOSPITAL   (France)

^d HÔPITAL ROBERT DEBRÉ   (France)

^e UNIVERSITY HOSPITAL OF NANCY   (France)

^f UNIVERSITÉ PARIS DESCARTES   (France)

^g LILLE UNIVERSITY HOSPITAL   (France)

^h UNIVERSITÉ PARIS DIDEROT   (France)

ⁱ INSTITUT CURIE   (France)

Author keywords

BRCA2; Cancer genetics; Fanconi anemia; Pediatric oncology; Rhabdomyosarcoma

Indexed keywords

BRCA2 PROTEIN; CACTINOMYCIN; CARBOPLATIN; DAUNORUBICIN; DOXORUBICIN; ETOPOSIDE; IFOSFAMIDE; NAVELBINE; RETINOIC ACID; VINCRISTINE; BRCA2 PROTEIN, HUMAN;

ACUTE GRANULOCYTIC LEUKEMIA; ADOLESCENT; ADRENAL TUMOR; APLASIA; ARTICLE; BRAIN TUMOR; CANCER CHEMOTHERAPY; CANCER COMBINATION CHEMOTHERAPY; CANCER DIAGNOSIS; CANCER MORTALITY; CANCER PALLIATIVE THERAPY; CANCER RADIOTHERAPY; CANCER THERAPY; CHILD; CHILDHOOD CANCER; COMPARATIVE GENOMIC HYBRIDIZATION; EMBRYONAL RHABDOMYOSARCOMA; FACE DYSMORPHIA; FAILURE TO THRIVE; FANCONI ANEMIA; FETUS; FRANCE; GENE MUTATION; GENETIC TRAIT; GERM CELL TUMOR; HEART FAILURE; HUMAN; HYPERTENSION; INFANT; MAJOR CLINICAL STUDY; MICROARRAY ANALYSIS; MUCOSA INFLAMMATION; NEPHROBLASTOMA; NEUROBLASTOMA; OUTCOME ASSESSMENT; PANCYTOPENIA; PHENOTYPE; PRIORITY JOURNAL; RADIATION DERMATITIS; RETROSPECTIVE STUDY; RHABDOMYOSARCOMA; SEPSIS; SEPTICEMIA; SKIN PIGMENTATION; SOLID TUMOR; VEIN OCCLUSION; CLINICAL TRIAL; DISEASE FREE SURVIVAL; DNA MICROARRAY; FEMALE; GENETICS; KIDNEY NEOPLASMS; MALE; MORTALITY; MULTICENTER STUDY; MUTATION; NEWBORN; PRESCHOOL CHILD; SURVIVAL RATE; WILMS TUMOR;

ADOLESCENT; BRCA2 PROTEIN; CHILD; CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE-FREE SURVIVAL; FANCONI ANEMIA; FEMALE; FRANCE; HUMANS; INFANT; INFANT, NEWBORN; KIDNEY NEOPLASMS; MALE; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; RHABDOMYOSARCOMA; SURVIVAL RATE; WILMS TUMOR;

EID: 84921342669     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.25303     Document Type: Article

References (49)

1. Kee Y, D'Andrea AD. Molecular pathogenesis and clinical management of Fanconi anemia. J Clin Invest 2012; 122:3799-3806.
2. Kottemann MC, Smogorzewska A. Fanconi anaemia and the repair of Watson and Crick DNA crosslinks. Nature 2013; 493:356-363.
3. Rosenberg PS, Greene MH, Alter BP. Cancer incidence in persons with Fanconi anemia. Blood 2003; 101:822-826.
4. Alter BP, Giri N, Savage SA, Peters JA, Loud JT, Leathwood L, Carr AG, Greene MH, Rosenberg PS. Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. Br J Haematol 2010; 150:179-188.
5. Rosenberg PS, Socie G, Alter BP, Gluckman E. Risk of head and neck squamous cell cancer and death in patients with Fanconi anemia who did and did not receive transplants. Blood 2005; 105:67-73.
6. van Zeeburg HJ, Snijders PJ, Wu T, Gluckman E, Soulier J, Surralles J, Castella M, van der Wal JE, Wennerberg J, Califano J, Velleuer E, Dietrich R, Ebell W, Bloemena E, Joenje H, Leemans CR, Brakenhoff RH. Clinical and molecular characteristics of squamous cell carcinomas from Fanconi anemia patients. J Natl Cancer Inst 2008; 100:1649-1653.
7. Alter BP, Giri N, Savage SA, Quint WG, de Koning MN, Schiffman M. Squamous cell carcinomas in patients with Fanconi anemia and dyskeratosis congenita: A search for human papillomavirus. Int J Cancer 2013; 133:1513-1515.
8. Alter BP, Greene MH, Velazquez I, Rosenberg PS. Cancer in Fanconi anemia. Blood 2003; 101:2072.
9. Butturini A, Gale RP, Verlander PC, Adler-Brecher B, Gillio AP, Auerbach AD. Hematologic abnormalities in Fanconi anemia: An International Fanconi Anemia Registry study. Blood 1994; 84:1650-1655.
10. Soulier J. Fanconi anemia. Hematol Am Soc Hematol Educ Program 2011; 2011:492-497.
11. Gyger M, Perreault C, Belanger R, Bonny Y, Forest L, Lussier P. Unsuspected Fanconi's anemia and bone marrow transplantation in cases of acute myelomonocytic leukemia. N Engl J Med 1989; 321:120-121.
12. Flowers ME, Doney KC, Storb R, Deeg HJ, Sanders JE, Sullivan KM, Bryant E, Witherspoon RP, Appelbaum FR, Buckner CD. Marrow transplantation for Fanconi anemia with or without leukemic transformation: An update of the Seattle experience. Bone Marrow Transplant 1992; 9:167-173.
13. Pinto FO, Leblanc T, Chamousset D, Le Roux G, Brethon B, Cassinat B, Larghero J, de Villartay JP, Stoppa-Lyonnet D, Baruchel A, Socié G, Gluckman E, Soulier J. Diagnosis of Fanconi anemia in patients with bone marrow failure. Haematologica 2009; 94:487-495.
14. Bourdeaut F, Grison C, Maurage CA, Laquerriere A, Vasiljevic A, Delisle MB, Michalak S, Figarella-Branger D, Doz F, Richer W, Pierron G, Miquel C, Delattre O, Couturier J. MYC and MYCN amplification can be reliably assessed by aCGH in medulloblastoma. Cancer Genet 2013; 206:124-129.
15. Berrebi D, Lebras MN, Belarbi N, Couturier J, Fattet S, Faye A, Peuchmaur M, de Lagausie P. Bilateral adrenal neuroblastoma and nephroblastoma occurring synchronously in a child with Fanconi's anemia and VACTERL syndrome. J Pediatr Surg 2006; 41:e11-e14.
16. Faivre L, Portnoi MF, Pals G, Stoppa-Lyonnet D, Le MM, Thauvin-Robinet C, Huet F, Mathew CG, Joenje H, Verloes A, Baumann C. Should chromosome breakage studies be performed in patients with VACTERL association? Am J Med Genet A 2005; 137:55-58.
17. Cancer risks in BRCA2 mutation carriers. The Breast Cancer Linkage Consortium. J Natl Cancer Inst 1999; 91:1310-1316.
18. Tournade MF, Com-Nougue C, de KJ Ludwig R, Rey A, Burgers JM, Sandstedt B, Godzinski J, Carli M, Potter R, Zucker JM. Optimal duration of preoperative therapy in unilateral and nonmetastatic Wilms' tumor in children older than 6 months: Results of the Ninth International Society of Pediatric Oncology Wilms' Tumor Trial and Study. J Clin Oncol 2001; 19:488-500.
19. Schleiermacher G, Janoueix-Lerosey I, Ribeiro A, Klijanienko J, Couturier J, Pierron G, Mosseri V, Valent A, Auger N, Plantaz D, Rubie H, Valteau-Couanet D, Bourdeaut F, Combaret V, Bergeron C, Michon J, Delattre O. Accumulation of segmental alterations determines progression in neuroblastoma. J Clin Oncol 2010; 28:3122-3130.
20. Williamson D, Missiaglia E, de RA, Pierron G, Thuille B, Palenzuela G, Thway K, Orbach D, Laé M, Fréneaux P, Pritchard-Jones K, Oberlin O, Shipley J, Delattre O. Fusion gene-negative alveolar rhabdomyosarcoma is clinically and molecularly indistinguishable from embryonal rhabdomyosarcoma. J Clin Oncol 2010; 28:2151-2158.
21. Quentin S, Cuccuini W, Ceccaldi R, Nibourel O, Pondarre C, Pages MP, Vasquez N, Dubois d'Enghien, C, Larghero J, Peffault de Latour R, Rocha V, Dalle JH, Schneider P, Michallet M, Michel G, Baruchel A, Sigaux F, Gluckman E, Leblanc T, Stoppa-Lyonnet D, Preudhomme C, Socié G, Soulier J. Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions. Blood 2011; 117:e161-e170.
22. Masserot C, Peffault de Latour R, Rocha V, Leblanc T, Rigolet A, Pascal F, Janin A, Soulier J, Gluckman E, Socié G. Head and neck squamous cell carcinoma in 13 patients with Fanconi anemia after hematopoietic stem cell transplantation. Cancer 2008; 113:3315-3322.
23. Hirsch B, Shimamura A, Moreau L, Baldinger S, Hag-alshiekh M, Bostrom B, Sencer S, D'Andrea AD. Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumours of childhood. Blood 2004; 103:2554-2559.
24. Xia B, Dorsman JC, Ameziane N, de VY, Rooimans MA, Sheng Q, Pals G, Errami A, Gluckman E, Llera J, Wang W, Livingston DM, Joenje H, de Winter JP. Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nat Genet 2007; 39:159-161.
25. Reid S, Schindler D, Hanenberg H, Barker K, Hanks S, Kalb R, Neveling K, Kelly P, Seal S, Freund M, Wurm M, Batish SD, Lach FP, Yetgin S, Neitzel H, Ariffin H, Tischkowitz M, Mathew CG, Auerbach AD, Rahman N. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet 2007; 39:162-164.
26. Alter BP, Olson SB. Wilms tumour, AML, and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia. Pediatr Blood Cancer 2010; 54:488.
27. D'Andrea AD. Susceptibility pathways in Fanconi's anemia and breast cancer. N Engl J Med 2010; 362:1909-1919.
28. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjäkoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: A combined analysis of 22 studies. Am J Hum Genet 2003; 72:1117-1130.
29. Cassinat B, Guardiola P, Chevret S, Schlageter MH, Toubert ME, Rain JD, Gluckman E. Constitutive elevation of serum alpha-fetoprotein in Fanconi anemia. Blood 2000; 96:859-863.
30. Shimamura A, Alter BP. Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev 2010; 24:101-122.
31. Alter BP, Rosenberg PS, Brody LC. Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. J Med Genet 2007; 44:1-9.
32. Schleiermacher G, Mosseri V, London WB, Maris JM, Brodeur GM, Attiyeh E, Haber M, Khan J, Nakagawara A, Speleman F, Noguera R, Tonini GP, Fischer M, Ambros I, Monclair T, Matthay KK, Ambros P, Cohn SL, Pearson AD. Segmental chromosomal alterations have prognostic impact in neuroblastoma: A report from the INRG project. Br J Cancer 2012; 107:1418-1422.
33. Hing S, Lu YJ, Summersgill B, King-Underwood L, Nicholson J, Grundy P, Grundy R, Gessler M, Shipley J, Pritchard-Jones K. Gain of 1q is associated with adverse outcome in favorable histology Wilms' tumours. Am J Pathol 2001; 158:393-398.
34. Lu YJ, Hing S, Williams R, Pinkerton R, Shipley J, Pritchard-Jones K. Chromosome 1q expression profiling and relapse in Wilms' tumour. Lancet 2002; 360:385-386.
35. Dome JS, Fernandez CV, Mullen EA, Kalapurakal JA, Geller JI, Huff V, Gratias EJ, Dix DB, Ehrlich PF, Khanna G, Malogolowkin MH, Anderson JR, Naranjo A, Perlman EJ. Children's Oncology Group's 2013 blueprint for research: Renal tumours. Pediatr Blood Cancer 2013; 60:994-1000.
36. Tischkowitz MD, Chisholm J, Gaze M, Michalski A, Rosser EM. Medulloblastoma as a first presentation of Fanconi anemia. J Pediatr Hematol Oncol 2004; 26:52-55.
37. Compostella A, Toffolutti T, Soloni P, Dall'Igna P, Carli M, Bisogno G. Multiple synchronous tumours in a child with Fanconi anemia. J Pediatr Surg 2010; 45:e5-e8.
38. Kopic S, Eirich K, Schuster B, Hanenberg H, Varon-Mateeva R, Rittinger O, Schimpl G, Schindler D, Jones N. Hepatoblastoma in a 4-year-old girl with Fanconi anaemia. Acta Paediatr 2011; 100:780-783.
39. Myers K, Davies SM, Harris RE, Spunt SL, Smolarek T, Zimmerman S, McMasters R, Wagner L, Mueller R, Auerbach AD, Mehta PA. The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations. Pediatr Blood Cancer 2012; 58:462-465.
40. de Chadarevian JP, Vekemans M, Bernstein M. Fanconi's anemia, medulloblastoma, Wilms' tumor, horseshoe kidney, and gonadal dysgenesis. Arch Pathol Lab Med 1985; 109:367-369.
41. Ruud E, Wesenberg F. Microcephalus, medulloblastoma and excessive toxicity from chemotherapy: An unusual presentation of Fanconi anaemia. Acta Paediatr 2001; 90:580-583.
42. Bissig H, Staehelin F, Tolnay M, Avoledo P, Richter J, Betts D, Bruder E, Kühne T. Co-occurrence of neuroblastoma and nephroblastoma in an infant with Fanconi's anemia. Hum Pathol 2002; 33:1047-1051.
43. Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, De Die-Smulders C, Persky N, Grompe M, Joenje H, Pals G, Ikeda H, Fox EA, D'Andrea AD. Biallelic inactivation of BRCA2 in Fanconi anemia. Science 2002; 297:606-609.
44. Offit K, Levran O, Mullaney B, Mah K, Nafa K, Batish SD, Diotti R, Schneider H, Deffenbaugh A, Scholl T, Proud VK, Robson M, Norton L, Ellis N, Hanenberg H, Auerbach AD. Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. J Natl Cancer Inst 2003; 95:1548-1551.
45. Reid S, Renwick A, Seal S, Baskcomb L, Barfoot R, Jayatilake H, Pritchard-Jones K, Stratton MR, Ridolfi-Lüthy A, Rahman N, Breast Cancer Susceptibility Collaboration (UK), Easton DF, Stratton MR. Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour. J Med Genet 2005; 42:147-151.
46. MacMillan ML, Auerbach AD, Wagner JE. Risk of malignancy in patients with biallelic BRCA2 mutations. ASPHO Abstracts 2005; 539-540.
47. Dewire MD, Ellison DW, Patay Z, McKinnon PJ, Sanders RP, Gajjar A. Fanconi anemia and biallelic BRCA2 mutation diagnosed in a young child with an embryonal CNS tumor. Pediatr Blood Cancer 2009; 53:1140-1142.
48. Sari N, Akyuz C, Aktas D, Gumruk F, Orhan D, Alikasifoglu M, Aydin B, Alanay Y, Buyukpamukcu M. Wilms tumor, AML and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia. Pediatr Blood Cancer 2009; 53:208-210.
49. Serra A, Eirich K, Winkler AK, Mrasek K, Göhring G, Barbi G, Cario H, Schlegelberger B, Pokora B, Liehr T, Leriche C, Henne-Bruns D, Barth TF, Schindler D. Shared copy number variation in simultaneous nephroblastoma and neuroblastoma due to Fanconi anemia. Mol Syndromol 2012; 3:120-130.