Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFNIAI genes

Genes Chromosomes and Cancer

Volumn 42, Issue 1, 2005, Pages 82-86

  Mendoza Londono, Roberto ^a   Kashork, Catherine D ^a   Shaffer, Lisa G ^a,b   Krance, Robert ^a   Plon, Sharoh E ^a,c  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b WASHINGTON STATE UNIVERSITY   (United States)

^c TEXAS CHILDREN S CANCER CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACUTE LYMPHOBLASTIC LEUKEMIA; ARTICLE; AUTOSOMAL DISORDER; BONE MARROW; CASE REPORT; CHROMOSOME 7; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; FIBROBLAST; FLUORESCENCE IN SITU HYBRIDIZATION; FOREHEAD; GENE; GENE DELETION; GENE EXPRESSION; GL13 GENE; GREIG CEPHALOPOLYSYNDACTYLY; HUMAN; MALE; PALPEBRAL FISSURE; PRIORITY JOURNAL; SCHOOL CHILD; STEM CELL TRANSPLANTATION; SYNDACTYLY; ZNFN1A1 GENE;

BONE MARROW CELLS; CHILD; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 7; DNA-BINDING PROTEINS; FIBROBLASTS; HUMANS; IKAROS TRANSCRIPTION FACTOR; KARYOTYPING; KRUPPEL-LIKE TRANSCRIPTION FACTORS; LEUKEMIA, LYMPHOCYTIC, ACUTE; MALE; NERVE TISSUE PROTEINS; SYNDACTYLY; TRANSCRIPTION FACTORS;

EID: 9644260572     PISSN: 10452257     EISSN: None     Source Type: Journal    
DOI: 10.1002/gcc.20100     Document Type: Article

References (24)

1. Biesecker LG. 1997. Strike three for GLI3. Nat Genet 17:259-260.
2. Chotai KA, Brueton LA, van Herwerden L, Garrett C, Hinkel GK, Schinzel A, Mueller RF, Speleman F, Winter RM. 1994. Six cases of 7p deletion: clinical, cytogenetic, and molecular studies. Am J Med Genet 51:270-276.
3. Cortes M, Wong E, Koipally J, Georgopoulos K. 1999. Control of lymphocyte development by the Ikaros gene family. Curr Opin Immunol 11:167-171.
4. Crawfurd MD, Kessel I, Liberman M, McKeown JA, Mandalia PY, Ridler MA. 1979. Partial monosomy 7 with interstitial deletions in two infants with differing congenital abnormalities. J Med Genet 16:453-460.
5. Debeer P, Peeters H, Driess S, De Smet L, Freese K, Matthijs G, Bornholdt D, Devriendt K, Grzeschik KH, Fryns JP, Kalff-Suske M. 2003. Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. Am J Med Genet 120A:49-58.
6. Georgopoulos K, Bigby M, Wang JH, Molnar A, Wu P, Winandy S, Sharpe A. 1994. The Ikaros gene is required for the development of all lymphoid lineages. Cell 79:143-156.
7. Hosokawa Y, Maeda Y, Ichinohasama R, Miura I, Taniwaki M, Seto M. 2000. The Ikaros gene, a central regulator of lymphoid differentiation, fuses to the BCL6 gene as a result of t(3:7)(q27;p12) translocation in a patient with diffuse large B-cell lymphoma. Blood 95:2719-2721.
8. Ishimaru F. 2002. Expression of Ikaros isoforms in patients with acute myeloid leukemia. Blood 100:1511-1513.
9. Janz S, Potter M, Rabkin CS. 2003. Lymphoma- and leukemia-associated chromosomal translocations in healthy individuals. Genes Chromosomes Cancer 36:211-223.
10. Jarosova M, Holzerova M, Jedlickova K, Mihal V, Zuna J, Stary J, Pospisilova D, Zemanova Z, Trka J, Blazek J, Pikalova Z, Indrak K. 2000. Importance of using comparative genomic hybridization to improve detection of chromosomal changes in childhood acute lymphoblastic leukemia. Cancer Genet Cytogenet 123:114-122.
11. Johnston JJ, Olivos-Glander I, Turner J, Aleck K, Bird LM, Mehta L, Schimke RN, Heilstedt H, Spence JE, Blancato J, Biesecker LG. 2003. Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. Am J Med Genet 123A:236-242.
12. Kalff-Suske M, Wild A, Topp J, Wessling M, Jacobsen EM, Bornholdt D, Engel H, Heuer H, Aalfs CM, Ausems MG, Barone R, Herzog A, Heutink P, Homfray T, Gillessen-Kaesbach G, Konig R, Kunze J, Meinecke P, Muller D, Rizzo R, Strenge S, Superti-Furga A, Grzeschik KH. 1999. Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. Hum Mol Genet 8:1769-1777.
13. Kapaun P, Kabisch H, Held KR, Walter TA, Hegewisch S, Zander AR. 1993. Atypical chronic myelogenous leukemia in a patient with trisomy 8 mosaicism syndrome. Ann Hematol 66:57-58.
14. Kroisel PM, Petek E, Wagner K. 2001. Phenotype of five patients with Greig syndrome and microdeletion of 7p13. Am J Med Genet 102:243-249.
15. Mecucci C, Van Orshoven A, Boogaerts M, Michaux JL, Van den Berghe H. 1989. Characterization of deletions of chromosome 7 short arm occurring as primary karyotypic anomaly in acute myeloid leukaemia. Br J Haematol 71:13-17.
16. Nakayama H, Ishimaru F, Katayama Y, Nakase K, Sezaki N, Takenaka K, Shinagawa K, Ikeda K, Niiya K, Harada M. 2000. Ikaros expression in human hematopoietic lineages. Exp Hematol 28:1232-1238.
17. Pettigrew AL, Greenberg F, Caskey CT, Ledbetter DH. 1991. Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13. Hum Genet 87:452-456.
18. Rebollo A, Schmitt C. 2003. Ikaros, Aiolos and Helios: transcription regulators and lymphoid malignancies. Immunol Cell Biol 81:171-175.
19. Seeker-Walker LM, Fitchett M. 1995. Constitutional and acquired trisomy 8. Leuk Res 19:737-740.
20. Sun L, Goodman PA, Wood CM, Crotty ML, Sensel M, Sather H, Navara C, Nachman J, Steinherz PG, Gaynon PS, Seibel N, Vassilev A, Juran BD, Reaman GH, Uckun FM. 1999a. Expression of aberrantly spliced oncogenic Ikaros isoforms in childhood acute lymphoblastic leukemia. J Clin Oncol 17:3753-3766.
21. Sun L, Heerema N, Crotty L, Wu X, Navara C, Vassilev A, Sensel M, Reaman GH, Uckun FM. 1999b. Expression of dominant-negative and mutant isoforms of the antileukemic transcription factor Ikaros in infant acute lymphoblastic leukemia. Proc Natl Acad Sci USA 96:680-685.
22. Takanashi M, Yagi T, Imamura T, Tabata Y, Morimoto A, Hibi S, Ishii E, Imashuku S. 2002. Expression of the Ikaros gene family in childhood acute lymphoblastic leukaemia. Br J Haematol 117:525-530.
23. Williams PG, Hersh JH, Yen FF, Barch MJ, Kleinert HE, Kunz J, Kalff-Suske M. 1997. Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogcnetic abnormality. Clin Genet 52:436-441.
24. Zollino M, Genuardi M, Bajer J, Tornesello A, Mastrangelo S, Zampino G, Mastrangelo R, Neri G. 1995. Constitutional trisomy 8 and myclodysplasia: report of a case and review of the literature. Leuk Res 19:733-736.