Malignant hematological disorders in children with Wolf-Hirschhorn syndrome

American Journal of Medical Genetics

Volumn 119 A, Issue 2, 2003, Pages 194-199

  Sharathkumar, Anjali ^a   Kirby, Melanie ^a   Freedman, Melvin ^a   Abdelhaleem, Mohamed ^a   Chitayat, David ^a   Teshima, Ikuko E ^a   Dror, Yigal ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Fibroblast growth factor receptor 3 gene; Myelodysplastic syndrome; Wolf Hirschhorn syndrome; Wolf Hirschhorn syndrome candidate 1 gene

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME DELETION 4; CHROMOSOME DISORDER; CONGENITAL MALFORMATION; CYTOPENIA; DYSPLASIA; FACIES; FAILURE TO THRIVE; FEEDING DISORDER; FEMALE; FGFR3 GENE; GENETIC MODEL; HEMATOLOGIC DISEASE; HUMAN; HUMAN CELL; LYMPHATIC LEUKEMIA; MALIGNANT TRANSFORMATION; MENTAL DEFICIENCY; MYELODYSPLASTIC SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; SIDEROBLASTIC ANEMIA; TUMOR SUPPRESSOR GENE; WHSC1 GENE; WOLF HIRSCHHORN SYNDROME;

CANIS;

EID: 0041320818     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20080     Document Type: Article

References (44)

1. Aatola M, Armstrong E, Teerenhovi L, Borgstrom GH. 1992. Clinical significance of the del(20q) chromosome in hematologic disorders. Cancer Genet Cytogenet 62:75-80.
2. Asimakopoulos FA, Green AR. 1996. Deletions of chromosome 20q and the pathogenesis of myeloproliferative disorders. Br J Haematol 95:219-226.
3. Auerbach A, Allen R. 1991. Leukemia and preleukemia in Fanconi anemia patients. A review of the literature and report of the International Fanconi Anemia Registry. Cancer Genet Cytogenet 51:1-12.
4. Bader-Meunier B, Mielot F, Tchernia G, Buisine J, Delsol G, Duchayne E, Lemerle S, Leverger G, de Lumley L, Manel AM. 1996. Myelodysplastic syndromes in childhood: Report of 49 patients from a French multicenter study. French Society of Pediatric Hematology and Immunology. Br J Haematol 92:344-350.
5. Basilico C, Moscatelli D. 1992. The FGF family of growth factors and oncogenes. Adv Cancer Res 59:115-165.
6. Battaglia A, Carey JC, Cederholm P, Viskochil DH, Brothman AR, Galasso C. 1999. Natural history of Wolf-Hirschhorn syndrome: Experience with 15 cases. Pediatrics 103:830-836.
7. Dror Y, Squire J, Durie P, Freedman MH. 1998. Malignant myeloid transformation with isochromosome 7q in Shwachman-Diamond syndrome. Leukemia 12:1591-1595.
8. Dror Y, Durie P, Ginzberg H, Herman R, Banerjee A, Champagne M, Shannon K, Malkin D, Freedman MH. 2002. Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: A prospective 5-year follow-up study. Exp Hematol 30:659-669.
9. Emanual PD. 1999. Myelodysplasia and myeloproliferative disorders in childhood: An update. Br J Haematol 105:852-863.
10. Estabrooks LL, Rao KL, Driscoll DA, Crandall BF, Dean JC, Ikonen E, Korf B, Aylsworth AS. 1995. Preliminary phenotypic map of chromosome 4p16 based on 4p deletions. Am J Med Genet 57:581-586.
11. Finelli P, Fabris S, Zagano S, Baldini L, Intini D, Nobili L, Lombardi L, Maiolo AT, Neri A. 1999. Detection of t(4; 14)(p16.3;q32) chromosomal translocation in multiple myeloma by double-color fluorescent in situ hybridization. Blood 94:724-732.
12. Francke U. 1994. Digitized and differentially shaded human chromosome ideograms for genomic applications. Cytogenet Cell Genet 65:206-219.
13. Groupe Francais de Cytogenetique Hematologique. 1997. Forty-four cases of childhood myelodysplasia with cytogenetics, documented by Groupe Francais de Cytogenetique Hematologique. Leukemia 11:1478-1485.
14. Gupta R, Abdulla SH, Bain BJ. 1999. Thrombocytosis and sideroblastic erythropoiesis: A mixed myeloproliferative myelodysplastic syndrome. Leuk Lymphoma 34:615-619.
15. Hernandez JM, Sanchez I, Gonzalez M, Orfao A, Gonzalez-Sarmiento R, San Miguel JF. 1993. Acute lymphoblastic leukemias following either a previous chronic myelogenous leukemia or myelodysplastic syndrome: Phenotypic and genomic differences. Am J Hematol 43:256-258.
16. Hirschhorn K, Cooper HL, Firschein IL. 1965. Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. Humangenetik 1:479-482.
17. Huang WY, Heng HHQ, Liew CC. 1996. Assignment of the human GATA4 gene to 8p23.1 p22 using fluorescence in situ hybridization analysis. Cytogenet Cell Genet 72:217-218.
18. Johnson DE, Williams LT. 1993. Structural and functional diversity in FGF receptor multigene family. Adv Cancer Res 60:1-41.
19. Johnson VP, Mulder RD, Hosen R. 1976. Wolf-Hirschhorn (4p-) syndrome. Clin Genet 10:104-112.
20. Koudes PA, Bennett JM. 1995. Transformation of chronic myelomonocytic leukemia to acute lymphoblastic leukemia: Case report and review of literature of lymphoblastic transformation of myelodysplastic syndrome. Am J Hematol 49:157-162.
21. Lange BJ, Kobrinski N, Bernard D, Arthur DC, Buckley JD, Howells WB, Gold S, Sanders J, Neudorf S, Smith FO, Woods WG. 1998. Distinctive demography, biology, and outcome of acute myeloid leukemia and myelodysplastic syndrome in children with Down syndrome: Children Cancer Group studies 2861 and 2891. Blood 91:608-612.
22. Mandel K, Dror Y, Freedman MH. 2002. Practical classification of pediatric myelodysplasia (CCC system). J Pediatr Hematol Oncol 24:596-605.
23. Mariotti M, Manganini M, Marrier JA. 2000. Modulation of WHSC2 expression in human endothelial cells. FEBS Lett 487:166-170.
24. Muenke M, Shell U. 1995. Fibroblast growth factor receptor mutation in human skeletal disorders. Trends Genet 11:308-313.
25. Nakazawa N, Nishida K, Tamura A, Kobayashi M, Iwai T, Horiike S, Nishigaki H, Otsuki T, Tomiyama Y, Fujii H, Kashima K, Taniwaki M. 2000. Interphase detection of t(4; 14)(p16.3;q32.3) by fluorescence in situ hybridisation and FGFR3 over expression in plasma cell malignancies. Cancer Genet Cytogenet 117:89-96.
26. Pehlivan T, Pober BR, Brueckner M, Garrett S, Slaugh R, Van Rheeden R, Wilson DB, Watson MS, Hing AV. 1999. GATA4 haploinsufficiency in patients with interstitial deletion 15 of chromosome region 8p23.1 and congenital heart disease. Am J Med Genet 83:201-206.
27. Reid E, Morrison N, Barron XX, Boyd E, Cooke A, Fielding D, Tolmie JL. 1996. Familial Wolf-Hirschhorn syndrome resulting from cryptic translocation: A clinical and molecular study. J Med Genet 33:197-202.
28. Roulston D, Espinosa R III, Nucifora G, Larson RA, Le Beau MM, Rowley JD. 1998. CBFA2(AML1) translocations with novel partner chromosomes in myeloid leukemias: Association with prior therapy. Blood 92:2879-2885.
29. Shannon NL, Maltby EL, Rigby AS, Quarrell OWJ. 2001. An epidemiological study of Wolf-Hirschhorn syndrome: Life expectancy and cause of mortality. J Med Genet 38:674-679.
30. Shivapurkar N, Sood S, Wistuba II, Virmani AK, Maitra A, Milchgrub S, Minna JD, Gazdar AF. 1999. Multiple regions of chromosome 4 demonstrating allelic losses in breast carcinomas. Cancer Res 59:3576-3580.
31. Shivapurkar N, Maitra A, Milchgrub S, Gazdar AF. 2001. Deletions of chromosome 4 occur early during the pathogenesis of colorectal carcinoma. Hum Pathol 32(2):169-177.
32. Sibley K, Cuthbert-Heavens D, Knowles MA. 2001. Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma. Oncogene 20:686-691.
33. Song WJ, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D, Ratajczak J, Resende IC, Haworth C, Hock R, Loh M, Felix C, Roy DC, Busque L, Kurnit D, Willman C, Gewirtz AM, Speck NA, Bushweller JH, Li FP, Gardiner K, Poncz M, Maris JM, Gilliland DG. 1999. Haploinsufficiency of CBFA2 causes familial throbocytopenia with propensity to develop acute myelogenous leukemia. Nat Genet 23:166-175.
34. Stec I, Wright T, van Ommen GJB, de Boer PA, van Haeringen A, Moorman AF, Altherr MR, den Dunnen JT. 1998. WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophilia dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. Hum Mol Genet 7:1071-1082.
35. Stiller CA, Chasells JM, Fitchette M. 1994. Neurofibromatosis and childhood leukemia/lymphoma: A population-based UKCCSG study. Br J Cancer 70:969-972.
36. Thomson LM, Plummer S, Schalling M, Altherr MR, Gusella JF, Housman DE, Wasmuth JJ. 1991. A gene encoding a fibroblast growth factor receptor isolated from Huntington disease gene region of human chromosome 4. Genomics 11:1133-1142.
37. Tommerup N, Aagaard L, Lund CL, Boel E, Baxendale S, Bates GP, Lehrach H, Vissing H. 1993. A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome. Hum Mol Genet 2:1571-1575.
38. Tupler R, Bortotto L, Buhler EM, Alkan M, Malik NJ, Bosch-Al Jadooa N, Memo L, Maraschio P. 1992. Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome. Am J Med Genet 29:53-55.
39. White RA, Dowler LL, Pasztor LM, Gatson LL, Adkison LR, Angeloni SV, Wilson DB. 1995. Assignment of transcription factor GATA4 gene to human chromosome 8 and mouse chromosome 14: GATA4 is a candidate gene for Ds (disorganization). Genomics 27:20-26.
40. Wieczorek D, Krause M, Majewski F, Albrecht B, Meinecke P, Riess O, Gillessen-Kaesbach G. 2000. Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschorn syndrome (WHS). J Med Genet 37:798-804.
41. Wilson MG, Towner JW, Coffin GS, Ebbin AJ, Siris E, Brager P. 1981. Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)]. Hum Genet 59:297-301.
42. Wolf U, Reinwein H, Porsch R, Schroter R, Baitsch H. 1965. Defizienz an den kurzen Armeneines Chromosoms Nr4. [Deficiency on the short arms of a chromosome No. 4.] (article in German). Humangenetik 1:397-413.
43. Wright TJ, Ricke DO, Denison K, Abmayr S, Cotter PD, Hirschhorn K, Keinanen M, McDonald-McGinn D, Somer M, Spinner N, Yang-Feng T, Zackai E, Altherr MR. 1997. A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. Hum Mol Genet 6:317-324.
44. Yan J, Zhang XX, Fetni R, Drouin R, 2001. Trisomy 8 and monosomy 7 detected in bone marrow using primed in situ labeling, fluorescence in situ hybridization, and conventional cytogenetic analyses. A study of 54 cases with hematological disorders. Cancer Genet Cytogenet 125:30-40.