A clinical algorithm predicts hematological complications in Shwachman-Diamond syndrome?

Expert Review of Hematology

Volumn 5, Issue 4, 2012, Pages 373-375

  Liu, Johnson M ^a,b  

^a FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH   (United States)

^b Northwell Health   (United States)

Author keywords

hematological complications; severe cytopenia; Shwachman Diamond syndrome

Indexed keywords

ACUTE GRANULOCYTIC LEUKEMIA; BONE MARROW DEPRESSION; CANCER RISK; COHORT ANALYSIS; CYTOPENIA; FOLLOW UP; GENETIC ALGORITHM; HUMAN; MAJOR CLINICAL STUDY; MYELODYSPLASTIC SYNDROME; PANCREAS EXOCRINE INSUFFICIENCY; PRIORITY JOURNAL; REVIEW; SHWACHMAN SYNDROME;

EID: 84866687698     PISSN: 17474086     EISSN: 17474094     Source Type: Journal    
DOI: 10.1586/ehm.12.31     Document Type: Review

References (17)

1. Liu JM, Lipton JM, Mani S. Sixth International Congress on Shwachman-Diamond syndrome: from patients to genes and back. Ann. NY Acad. Sci. 1242, 26-39 (2011).
2. Dror Y. Shwachman-Diamond syndrome. Pediatr. Blood Cancer 45(7), 892-901 (2005).
3. Donadieu J, Fenneteau O, Beaupain B et al. Classification and risk factors of hematological complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome. Haematologica doi:10.3324/haematol. 2011.057489 (2012) (Epub ahead of print).
4. Dror Y, Donadieu J, Koglmeier J et al. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Ann. NY Acad. Sci. 1242, 40-55 (2011).
5. Steensma DP, List AF. Genetic testing in the myelodysplastic syndromes: molecular insights into hematologic diversity. Mayo Clin. Proc. 80(5), 681-698 (2005).
6. Cunningham J, Sales M, Pearce A et al. Does isochromosome 7q mandate bone marrow transplant in children with Shwachman-Diamond syndrome? Br. J. Haematol. 119(4), 1062-1069 (2002).
7. Dror Y, Durie P, Ginzberg H et al. Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study. Exp. Hematol. 30(7), 659-669 (2002).
8. Maserati E, Minelli A, Pressato B et al. Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies. Genes. Chromosomes Cancer 45(4), 375-382 (2006).
9. +2tc mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome. Leukemia 23(4), 708-711 (2009).
10. Mellink CH, Alders M, van der Lelie H, Hennekam RH, Kuijpers TW. SBDS mutations and isochromosome 7q in a patient with Shwachman-Diamond syndrome: no predisposition to malignant transformation? Cancer Genet. Cytogenet. 154(2), 144-149 (2004).
11. Kawakami T, Mitsui T, Kanai M et al. Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations. Tohoku J. Exp. Med. 206(3), 253-259 (2005).
12. Mäkitie O, Ellis L, Durie PR et al. Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS. Clin. Genet. 65(2), 101-112 (2004).
13. Taneichi H, Kanegane H, Futatani T et al. Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan. Int. J. Hematol. 84(1), 60-62 (2006).
14. Kuijpers TW, Alders M, Tool AT, Mellink C, Roos D, Hennekam RC. Hematologic abnormalities in Shwachman-Diamond syndrome: lack of genotype-phenotype relationship. Blood 106(1), 356-361 (2005).
15. Toiviainen-Salo S, Pitkänen O, Holmström M et al. Myocardial function in patients with Shwachman-Diamond syndrome: aspects to consider before stem cell transplantation. Pediatr. Blood Cancer 51(4), 461-467 (2008).
16. Savilahti E, Rapola J. Frequent myocardial lesions in Shwachman's syndrome. Eight fatal cases among 16 Finnish patients. Acta Paediatr. Scand. 73(5), 642-651 (1984).
17. Bhatla D, Davies SM, Shenoy S et al. Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syndrome. Bone Marrow Transplant. 42(3), 159-165 (2008).