Wiskott-Aldrich syndrome with unusual clinical features similar to juvenile myelomonocytic leukemia

International Journal of Hematology

Volumn 96, Issue 2, 2012, Pages 279-283

  Sano, Hirozumi ^a   Kobayashi, Ryoji ^a   Suzuki, Daisuke ^a   Yasuda, Kazue ^a   Nakanishi, Masanori ^b   Nagashima, Tetsuro ^b   Yamada, Masafumi ^c   Kobayashi, Kunihiko ^a  

^a SAPPORO HOKUYU HOSPITAL   (Japan)

^b Kushiro Red Cross Hospital   (Japan)

^c HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Differential diagnosis.; Juvenile myelomonocytic leukemia (JMML); Wiskott Aldrich syndrome (WAS)

Indexed keywords

BUSULFAN; CORTICOSTEROID; CYCLOPHOSPHAMIDE; CYCLOSPORIN; IMMUNOGLOBULIN E; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; LACTATE DEHYDROGENASE; METHOTREXATE; WISKOTT ALDRICH SYNDROME PROTEIN;

ACUTE GRAFT VERSUS HOST DISEASE; ARTICLE; BONE MARROW TRANSPLANTATION; CASE REPORT; CLINICAL FEATURE; ERYTHROCYTE COUNT; GENE EXPRESSION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; INFANT; INTERSTITIAL PNEUMONIA; JUVENILE MYELOMONOCYTIC LEUKEMIA; LACTATE DEHYDROGENASE BLOOD LEVEL; LEUKOCYTE COUNT; LEUKOCYTOSIS; MALE; PETECHIA; PROPHYLAXIS; RECTUM HEMORRHAGE; THROMBOCYTE COUNT; THROMBOCYTOPENIA; TREATMENT OUTCOME; WISKOTT ALDRICH SYNDROME;

BASE SEQUENCE; BIOPSY; BONE MARROW; BONE MARROW TRANSPLANTATION; DIAGNOSIS, DIFFERENTIAL; GENOTYPE; HUMANS; INFANT, NEWBORN; LEUKEMIA, MYELOMONOCYTIC, JUVENILE; MALE; MUTATION; TRANSPLANTATION, HOMOLOGOUS; WISKOTT-ALDRICH SYNDROME; WISKOTT-ALDRICH SYNDROME PROTEIN;

EID: 84867030056     PISSN: 09255710     EISSN: 18653774     Source Type: Journal    
DOI: 10.1007/s12185-012-1130-x     Document Type: Article

References (23)

1. Wiskott A. Familiarer, angeborener Morbus Werlhofli. Monatsschrift Kinderheikunde. 1937;68:212-6.
2. Aldrich RA, Steinberg AG, Campbell DC. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics. 1954;13:133-9.
3. Perry GS 3rd, Spector BD, Schuman LM, Mandel JS, Anderson VE, McHugh RB, et al. The Wiskott-Aldrich syndrome in the United States and Canada. J Pediatr. 1980;97:72-8.
4. Derry JM, Ochs HD, Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell. 1994;78:635-44.
5. Sullivan KE, Mullen CA, Blaese RM, Winkelstein JA. A multiinstitutional survey of the Wiskott-Aldrich syndrome. J Pediatr. 1994;125:876-85.
6. Niemeyer CM, Kratz CP. Paediatric myelodysplastic syndromes and juvenile myelomonocytic leukaemia: molecular classification and treatment options. Br J Haematol. 2008;140:610-24.
7. Niemeyer CM, Arico M, Basso G, Biondi A. Cantu Rajnoldi A, Creutzig U, 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;89:3534-43.
8. Side LE, Emanuel PD, Taylor B, Franklin J, Thompson P, Castleberry RP, et al. Mutations of the NF1 gene in children with juvenile myelomonocytic leukemia without clinical evidence of neurofibromatosis, type 1. Blood. 1998;92:267-72.
9. Flotho C, Valcamonica S, Mach-Pascual S, Schmahl G, Corral L, Ritterbach J, et al. Ras mutations and clonality analysis in children with juvenile myelomonocytic leukemia (JMML). Leukemia. 1999;13:32-7.
10. Tartaglia M, Niemeyer CM, Fragale A, Song X, Buechner J, Jung A, et al. Somatic PTPN11 mutations in juvenile myelomonocytic leukemia, myelodysplastic syndromes, and acute myeloid leukemia. Nat Genet. 2003;34:148-50.
11. Loh ML, Sakai DS, Flotho C, Kang M, Fliegauf M, Archambeault S, et al. Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. Blood. 2009;114:1859-63.
12. Chan RJ, Cooper T, Kratz CP, Weiss B, Loh ML. Juvenile myelomonocytic leukemia: a report from the 2nd International JMML Symposium. Leuk Res. 2009;33:355-62.
13. Yamamoto T, Isomura M, Xu Y, Liang J, Yagasaki H, Kamachi Y, et al. PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia. Leuk Res. 2006;30:1085-9.
14. Shiba N, Kato M, Park MJ, Sanada M, Ito E, Fukushima K, et al. CBL mutations in juvenile myelomonocytic leukemia and pediatric myelodysplastic syndrome. Leukemia. 2010;24:1090-2.
15. Yamada M, Ariga T, Kawamura N, Yamaguchi K, Ohtsu M, Nelson DL, et al. Determination of carrier status for the Wiskott- Aldrich syndrome by flow cytometric analysis of Wiskott-Aldrich syndrome protein expression in peripheral blood mononuclear cells. J Immunol. 2000;165:1119-22.
16. Watanabe N, Yoshimi A, Kamachi Y, Kawabe T, Muramatsu H, Matsumoto K, et al. Wiskott-Aldrich syndrome is an important differential diagnosis in male infants with juvenile myelomonocytic leukemialike features. J Pediatr Hematol Oncol. 2007;29:836-8.
17. Jin Y, Mazza C, Christie JR, Giliani S, Fiorini M, Mella P, et al. Mutations of the Wiskott-Aldrich syndrome protein (WASP): hotspots, effect on transcription, and translation and phenotype/ genotype correction. Blood. 2004;104:4010-9.
18. Imai K, Morio T, Zhu Y, Jin Y, Itoh S, Kajiwara M, et al. Clinical course of patients with WASP gene mutations. Blood. 2004;103:456-64.
19. Ancliff PJ, Blundell MP, Cory GO, Calle Y, Worth A, Kempski H, et al. Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. Blood. 2006; 108:2182-9.
20. Ochs HD, Filipovich AH, Veys P, Cowan MJ, Kapoor N. Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment. Biol Blood Marrow Transplant. 2009;15:84-90.
21. Burns S, Cory GO, Vainchenker W, Thrasher AJ. Mechanism of WASP-mediated hematologic and immunologic diseases. Blood. 2004;104:3454-62.
22. Kobayashi R, Ariga T, Nonoyama S, Kanegane H, Tsuchiya S, Morio T, et al. Outcomes in patients with Wiskott-Aldrich syndrome following stem cell transplantation: an analysis of 57 patients in Japan. Br J Haematol. 2006;135:362-6.
23. Kataoka I, Kami M, Takahashi S, Kodera Y, Miyawaki S, Hirabayashi N, et al. Clinical impact of graft-versus-host disease against leukemias not in remission at the time of allogeneic hematopoietic stem cell transplantation from related donors. The Japan Society for Hematopoietic Cell Transplantation Working Party. Bone Marrow Transplant. 2004;34:711-9.