Transient myeloproliferative disorder and GATA1 mutation in neonates with and without down syndrome

Indian Journal of Pediatrics

Volumn 78, Issue 7, 2011, Pages 826-832

  Tsai, Ming Horng ^a,b   Hou, Jia Woei ^a,b   Yang, Chao Ping ^a,b   Yang, Pong Hong ^a,b   Chu, Shih Ming ^a,b   Hsu, Jen Fu ^a,b   Chiang, Ming Chou ^a,b   Huang, Hsuan Rong ^a,b  

^a CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^b CHANG GUNG UNIVERSITY   (Taiwan)

Author keywords

Acute megakaryoblastic leukemia; Down syndrome; GATA1 mutation; Transient myeloproliferative disorder; Trisomy 21

Indexed keywords

ASPARTATE AMINOTRANSFERASE; BILIRUBIN; CD14 ANTIGEN; CD15 ANTIGEN; CD19 ANTIGEN; CD33 ANTIGEN; CD34 ANTIGEN; CD7 ANTIGEN; CYTARABINE; DNA; FIBRINOGEN RECEPTOR; GLYCOPHORIN A; HEMOGLOBIN; HLA D ANTIGEN; IDARUBICIN; LACTATE DEHYDROGENASE; MICROSOMAL AMINOPEPTIDASE; POTASSIUM;

ACUTE LEUKEMIA; ACUTE MEGAKARYOCYTIC LEUKEMIA; AMINO TERMINAL SEQUENCE; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BILIRUBIN BLOOD LEVEL; BONE MARROW BIOPSY; CAUSE OF DEATH; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; CYTOPENIA; DISEASE FREE SURVIVAL; DOWN SYNDROME; EXON; FEMALE; GATA1 GENE; GENE; GENE DELETION; GENE MUTATION; GENETIC SCREENING; HEART DISEASE; HEMOGLOBIN BLOOD LEVEL; HEPATOMEGALY; HEPATOSPLENOMEGALY; HUMAN; HYPERBILIRUBINEMIA; HYPERKALEMIA; IMMUNOPHENOTYPING; KARYOTYPING; LACTATE DEHYDROGENASE BLOOD LEVEL; LEUKEMIA REMISSION; LEUKOCYTE COUNT; LEUKOCYTOSIS; LIVER FAILURE; LOW DRUG DOSE; MALE; MEGAKARYOBLAST; MEGAKARYOCYTE; MYELODYSPLASTIC SYNDROME; MYELOPROLIFERATIVE DISORDER; NEWBORN; NEWBORN DEATH; POINT MUTATION; POTASSIUM BLOOD LEVEL; PREMATURE STOP CODON; SOMATIC MUTATION; STOP CODON; THROMBOCYTE COUNT; TRANSIENT MYELOPROLIFERATIVE DISORDER; TRISOMY 21;

DOWN SYNDROME; FEMALE; GATA1 TRANSCRIPTION FACTOR; HUMANS; INFANT, NEWBORN; LEUKEMIA, MEGAKARYOBLASTIC, ACUTE; MALE; MYELOPROLIFERATIVE DISORDERS; NEOPLASM REGRESSION, SPONTANEOUS; POINT MUTATION; POLYMERASE CHAIN REACTION; PROSPECTIVE STUDIES;

EID: 79961170294     PISSN: 00195456     EISSN: 09737693     Source Type: Journal    
DOI: 10.1007/s12098-010-0312-x     Document Type: Article

References (30)

1. GV Massey 2005 Transient leukemia in newborns with Down syndrome Pediatr Blood Cancer 44 29 32 15558701 10.1002/pbc.20141 (Pubitemid 39602562)
2. GJ Schunk WL Lehman 1954 Mongolism and congenital leukemia JAMA 155 250 251 1:STN:280:DyaG2c%2FntFyltg%3D%3D
3. R Engel D Hammond 1964 Transient congenital leukemia in 7 infants with mongolism J Pediatr 65 303 305 14198422 10.1016/S0022-3476(64)80535-7 1:STN:280:DyaF2M%2Fgt1OqtA%3D%3D
4. IQ Magalhães A Splendore M Emerenciano, et al. 2005 Transient neonatal myeloproliferative disorder without Down syndrome and detection of GATA1 mutation J Pediatr Hematol Oncol 27 50 52 15654280 10.1097/01.mph. 0000151801.26478.03 (Pubitemid 40175963)
5. T Cushing CL Clericuzio CS Wilson, et al. 2006 Risk for leukemia in infants without Down syndrome who have transient myeloproliferative disorder J Pediatr 148 687 689 16737888 10.1016/j.jpeds.2005.12.031 (Pubitemid 43776918)
6. MD Brissette BJ Duval-Arnould BG Gordon JD Cotelingam 1994 Acute megakaryoblastic leukemia following transient myeloproliferative disorder in a patient without Down syndrome Am J Hematol 47 316 319 7977305 10.1002/ajh.2830470413 1:STN:280:DyaK2M%2Fmsl2jsQ%3D%3D (Pubitemid 24372288)
7. M Richards J Welch A Watmore D Readett AJ Vora 1998 Trisomy 21 associated transient neonatal myeloproliferation in the absence of Down's syndrome Arch Dis Child Fetal Neonatal Ed 79 F215 217 10194996 10.1136/fn.79.3.F215 1:STN:280:DyaK1M3htV2jsg%3D%3D
8. JD Crispino 2005 GATA1 mutations in Down syndrome: implications for biology and diagnosis of children with transient myeloproliferative disorder and acute megakaryoblastic leukemia Pediatr Blood Cancer 44 40 44 15390312 10.1002/pbc.20066 (Pubitemid 39602564)
9. A Gassas JJ Doyle S Weitzman, et al. 2005 A basic classification and a comprehensive pediatric myeloproliferative disorder J Pediatr Hematol Oncol 27 192 196 15838389 10.1097/01.mph.0000159934.35079.b5 (Pubitemid 40604839)
10. GV Massey A Zipursky MN Chang, et al. 2006 A prospective study of the natural history of transient leukemia (TL) in neonates with Down syndrome (DS): a Children's Oncology Group (COG) study POG-9481 Blood 107 4606 4613 16469874 10.1182/blood-2005-06-2448 1:CAS:528:DC%2BD28XlvFCgs7c%3D (Pubitemid 43882604)
11. P Vyas JD Crispino 2007 Molecular insights into Down syndrome-associated leukemia Curr Opin Pediatr 19 9 14 17224656 10.1097/MOP.0b013e328013e7b2 (Pubitemid 46114752)
12. ME Greene G Mundschau J Wechsler, et al. 2003 Mutations in GATA1 in both transient myeloproliferative disorder and acute megakaryoblastic leukemia of Down syndrome Blood Cells Mol Dis 31 351 356 14636651 10.1016/j.bcmd.2003.08.001 1:CAS:528:DC%2BD3sXptVeksrw%3D (Pubitemid 37433876)
13. M Ahmed A Sternberg G Hall, et al. 2004 Natural history of GATA1 mutations in Down syndrome Blood 103 2480 2489 14656875 10.1182/blood-2003-10- 3383 1:CAS:528:DC%2BD2cXjtValu7o%3D (Pubitemid 38392997)
14. A Zipursky EJ Brown H Christensen J Doyle 1999 Transient myeloproliferative disorder (transient leukemia) and hematologic manifestations of Down syndrome Clin Lab Med 19 157 167 10403079 1:STN:280:DyaK1MzjtFGisw%3D%3D (Pubitemid 29217322)
15. H Hasle IH Clemmensen M Mikkelsen 2000 Risks of leukemia and solid tumors in individuals with Down's syndrome Lancet 355 165 169 10675114 10.1016/S0140-6736(99)05264-2 1:STN:280:DC%2BD3c7jslGkuw%3D%3D (Pubitemid 30068214)
16. GV Massey 2005 Transient leukemia in newborns with Down syndrome Pediatr Blood Cancer 44 29 32 15558701 10.1002/pbc.20141 (Pubitemid 39602562)
17. DS Brink 2006 Transient leukemia (transient myeloproliferative disorder, transient abnormal myelopoiesis) of Down syndrome Adv Anat Pathol 13 256 262 16998319 10.1097/01.pap.0000213039.93328.44 (Pubitemid 44439980)
18. A Zipursky E Brown H Christensen R Sutherland J Doyle 1997 Leukemia and/or myeloproliferative syndrome in neonates with Down syndrome Semin Perinatol 21 97 101 9190039 10.1016/S0146-0005(97)80025-0 1:STN:280: DyaK2szjtl2itQ%3D%3D (Pubitemid 27247332)
19. M Adam A Vincenot F Gouraud, et al. 2007 Transient myeloproliferative disorder in a neonate without Down syndrome Ann Biol Clin (Paris) 65 569 573 1:STN:280:DC%2BD2srpt1KjsA%3D%3D (Pubitemid 47612187)
20. J Wechsler M Greene MA McDevitt, et al. 2002 Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome Nat Genet 32 148 152 12172547 10.1038/ng955 1:CAS:528:DC%2BD38Xms1ajsb8%3D (Pubitemid 34977210)
21. Z Li FJ Godinho JH Klusmann M Garriga-Canut C Yu SH Orkin 2005 Developmental stage selective effect of somatically mutated leukemogenic transcription factor GATA1 Nat Genet 37 613 619 15895080 10.1038/ng1566 1:CAS:528:DC%2BD2MXksFeis7k%3D (Pubitemid 40770416)
22. AG Muntean JD Crispino 2005 Differential requirements for the activation domain and FOG-interaction surface of GATA-1 in megakaryocyte gene expression and development Blood 106 1223 1231 15860665 10.1182/blood-2005-02-0551 1:CAS:528:DC%2BD2MXosVejsbg%3D (Pubitemid 41129583)
23. E Carpenter V Valverde-Garduno A Sternberg C Mitchell I Roberts R Vyas 2005 GATA1 mutation and trisomy 21 are required only in haematopoietic cells for development of transient myeloproliferative disorder Br J Haematol 128 548 551 15686466 10.1111/j.1365-2141.2004.05342.x 1:CAS:528:DC%2BD2MXit1WmurY%3D (Pubitemid 40283175)
24. S Gurbuxani P Vyas JD Crispino 2004 Recent insights into the mechanisms of myeloid leukemogenesis in Down syndrome Blood 103 399 406 14512321 10.1182/blood-2003-05-1556 1:CAS:528:DC%2BD2cXmsFeqsg%3D%3D (Pubitemid 38140066)
25. G Xu K Kato T Toki T Yoshihiro T Kiminori E Ito 2006 Development of acute megakaryoblastic leukemia from a minor clone in a Down syndrome patient with clinically overt transient myeloproliferative disorder J Pediatr Hematol Oncol 28 696 698 17023834 10.1097/01.mph.0000212997.02554.f6 1:CAS:528: DC%2BD28XhtlCisL%2FM (Pubitemid 44536053)
26. ST Chou JB Opalinska Y Yao, et al. 2008 Trisomy 21 enhances human fetal erythro-megakaryocytic development Blood 112 4503 4506 18812473 10.1182/blood-2008-05-157859 1:CAS:528:DC%2BD1cXhsVCltb3L
27. B Stark M Jeison C Preudhomme, et al. 2002 Acquired trisomy 21 and distinct clonal evolution in acute megakaryoblastic leukaemia in young monozygotic twins Br J Haematol 118 1082 1086 12199789 10.1046/j.1365-2141.2002. 03756.x 1:CAS:528:DC%2BD38Xotlanu78%3D (Pubitemid 35025973)
28. L Rainis D Bercovich S Strehl, et al. 2003 Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21 Blood 102 981 986 12649131 10.1182/blood-2002-11-3599 1:CAS:528:DC%2BD3sXlvFCmtrg%3D (Pubitemid 36917793)
29. SR Pine Q Guo C Yin S Jayabose CM Druschel C Sandoval 2007 Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome Blood 110 2128 2131 17576817 10.1182/blood-2007-01-069542 1:CAS:528:DC%2BD2sXhtVGjtbfL (Pubitemid 47443931)
30. MG Shin HW Choi HR Kim, et al. 2008 Tetrasomy 21 as a sole acquired abnormality without GATA1 gene mutation in pediatric acute megakaryoblastic leukemia: a case report and review of the literature Leuk Res 32 1615 1619 18372039 10.1016/j.leukres.2008.02.010 1:CAS:528:DC%2BD1cXntlGgsL4%3D