Use of human androgen receptor gene analysis to aid the diagnosis of JMML in female noonan syndrome patients

Pediatric Blood and Cancer

Volumn 51, Issue 2, 2008, Pages 298-302

  Lavin, Viviana A ^a   Hamid, Rizwan ^a   Patterson, Johnequia ^a   Alford, Catherine ^a   Ho, Richard ^a   Yang, Elizabeth ^a,b  

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Clonality; HUMARA; JMML; Noonan syndrome

Indexed keywords

ANDROGEN RECEPTOR; GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR; AR PROTEIN, HUMAN; PROTEIN TYROSINE PHOSPHATASE SHP 2; PTPN11 PROTEIN, HUMAN;

ARTICLE; CELL POPULATION; CELL PROLIFERATION; FEMALE; GENETIC ANALYSIS; HUMAN; JUVENILE MYELOMONOCYTIC LEUKEMIA; MONOCYTE; MONOCYTOSIS; MYELOPROLIFERATIVE DISORDER; NOONAN SYNDROME; PRIORITY JOURNAL; PROMYELOCYTE; GENETICS; INFANT; MUTATION;

FEMALE; GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR; HUMANS; INFANT; LEUKEMIA, MYELOMONOCYTIC, JUVENILE; MUTATION; NOONAN SYNDROME; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; RECEPTORS, ANDROGEN;

EID: 45549108065     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.21591     Document Type: Article

References (19)

1. Emanuel PD. Juvenile myelomonocytic leukemia. Curr Hematol Rep 2004;3:203-209.
2. Niemeyer CM, Arico M, Basso G, et al. Chronic myelomonocytic leukemia in childhood: A retrospective analysis of 110 cases. European Working Group on Myelodysplastic Syndromes in Childhood (EWOG-MDS). Blood 1997;89:3534-3543.
3. Hasle H, Niemeyer CM, Chessells JM, et al. A pediatric approach to the WHO classification of myelodysplastic and myeloproliferative diseases. Leukemia 2003;17:277-282.
4. Emanuel PD, Bates LJ, Castleberry RP, et al. Selective hypersensitivity to granulocyte-macrophage colony-stimulating factor by juvenile chronic myeloid leukemia hematopoietic progenitors. Blood 1991;77:925-929.
5. Tartaglia M, Gelb BD. Noonan syndrome and related disorders: Genetics and pathogenesis. Annu Rev Genomics Hum Genet 2005;6:45-68.
6. 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.
7. Kratz CP, Niemeyer CM, Castleberry RP, et al. The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/ myeloproliferative disease. Blood 2005;106:2183-2185.
8. Schubbert S, Zenker M, Rowe SL, et al. Germline KRAS mutations cause Noonan syndrome. Nat Genet 2006;38:331-336.
9. Roberts AE, Araki T, Swanson KD, et al. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet 2007;39:70-74.
10. 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.
11. Busque L, Zhu J, DeHart D, et al. An expression based clonality assay at the human androgen receptor locus (HUMARA) on chromosome X. Nucleic Acids Res 1994;22:697-698.
12. Gale RE. Evaluation of clonality in myeloid stem-cell disorders. Semin Hematol 1999;36:361-372.
13. Allen RC, Zoghbi HY, Moseley AB, et al. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992;51:1229-1239.
14. Tilley WD, Marcelli M, Wilson JD, et al. Characterization and expression of a cDNA encoding the human androgen receptor. Proc Natl Acad Sci USA 1989;86:327-331.
15. Busque L, Gilliland DG, Prchal JT, et al. Clonality in juvenile chronic myelogenous leukemia. Blood 1995;85:21-30.
16. Jakso P, Kereskai L, Molnar L, et al. Lineage-specific clonality analysis of chronic myeloproliferative disorders and myelodysplastic syndrome by human androgen receptor assay. Pathol Oncol Res 2007;13:114-122.
17. Nakahara Y, Suzuki H, Ohashi H, et al. Clonality analysis of granulocytes and T lymphocytes in healthy females by the PCR-based HUMARA method. Int J Hematol 1999;69:237-243.
18. Mitterbauer G, Winkler K, Gisslinger H, et al. Clonality analysis using X-chromosome inactivation at the human androgen receptor gene (Humara). Evaluation of large cohorts of patients with chronic myeloproliferative diseases, secondary neutrophilia, and reactive thrombocytosis. Am J Clin Pathol 1999;112:93-100.
19. Chen GL, Prchal JT. X-linked clonality testing: Interpretation and limitations. Blood 2007;110:1411-1419.