Advanced search
Publication Cover
Expert Review of Hematology Volume 5, 2012 - Issue 4
Submit an article Journal homepage
46
Views
3
CrossRef citations to date
0
Altmetric
Key Paper Evaluation

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

Johnson M Liu The Feinstein Institute for Medical Research, Manhasset, NY 11030, USAandCohen Children’s Medical Center of NY, New Hyde Park, NY 11040, USA. [email protected]
Pages 373-375 | Published online: 10 Jan 2014

References

  • 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).
  • Dror Y. Shwachman–Diamond syndrome. Pediatr. Blood Cancer 45(7), 892–901 (2005).
  • 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).
  • 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).
  • Steensma DP, List AF. Genetic testing in the myelodysplastic syndromes: molecular insights into hematologic diversity. Mayo Clin. Proc. 80(5), 681–698 (2005).
  • 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).
  • 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).
  • 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).
  • Minelli A, Maserati E, Nicolis E et al. The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome. Leukemia 23(4), 708–711 (2009).
  • 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).
  • 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).
  • 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).
  • 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).
  • 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).
  • 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).
  • 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).
  • 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).

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.