Breast cancer in a case of Shwachman Diamond syndrome

Pediatric Blood and Cancer

Volumn 59, Issue 5, 2012, Pages 945-946

  Singh, Sharon A ^a,b,c   Vlachos, Adrianna ^a,b,c   Morgenstern, Nora J ^c   Ouansafi, Ihsane ^d   Ip, Wan ^e   Rommens, Johanna M ^e   Durie, Peter ^e,f,g   Shimamura, Akiko ^h,i   Lipton, Jeffrey M ^a,b,c  

^a Northwell Health   (United States)

^b FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH   (United States)

^c DONALD AND BARBARA ZUCKER SCHOOL OF MEDICINE AT HOFSTRA NORTHWELL   (United States)

^d Department of Pathology   (United States)

^e HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^f HOSPITAL FOR SICK CHILDREN   (Canada)

^g UNIVERSITY OF TORONTO   (Canada)

^h Fred Hutchinson Cancer Research Center   (United States)

ⁱ UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Breast cancer; Cancer predisposition; Inherited bone marrow failure syndromes; Neutropenia; Shwachman Diamond syndrome

Indexed keywords

CD56 ANTIGEN; GRANULOCYTE COLONY STIMULATING FACTOR; ISOAMYLASE; KI 67 ANTIGEN; PROTEIN; SHWACHMAN BODIAN DIAMOND SYNDROME PROTEIN; SYNAPTOPHYSIN; TRYPSINOGEN; UNCLASSIFIED DRUG; UVOMORULIN;

ADULT; ALLELE; ARTICLE; BONE MARROW BIOPSY; BREAST CANCER; CANCER RADIOTHERAPY; CASE REPORT; CYTOGENETICS; ENZYME REPLACEMENT; EXON; FEMALE; FOLLOW UP; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MASTECTOMY; NEUTROPENIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PANCYTOPENIA; PARTIAL MASTECTOMY; PRIORITY JOURNAL; SHWACHMAN SYNDROME; THROMBOCYTOPENIA;

ADULT; ALLELES; BONE MARROW DISEASES; BREAST NEOPLASMS; EXOCRINE PANCREATIC INSUFFICIENCY; FEMALE; HUMANS; LIPOMATOSIS; MUTATION; PROTEINS;

EID: 84866180936     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.24052     Document Type: Article

References (15)

1. Shwachman H, Diamond LK, Oski FA, et al. The syndrome of pancreatic insufficiency and bone marrow dysfunction. J Pediatr 1964; 65: 645-663.
2. Bodian M, Sheldon W, Lightwood R. Congenital hypoplasia of the exocrine pancreas. Acta Paediatr 1964; 53: 282-293.
3. Ip WF, Dupuis A, Ellis L, et al. Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome. J Pediatr 2002; 141: 259-265.
4. Burroughs L, Woolfrey A, Shimamura A. Shwachman-Diamond syndrome: A review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. Hematol Oncol Clin North Am 2009; 23: 233-248.
5. Kerr E, Ellis L, Dupuis A. The behavioral phenotype of school-age children with Shwachman Diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function. J Pediatr 2010; 156: 433-438.
6. Donadieu J, Leblanc T, Bader Meunier B, et al. Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group. Haematologica 2005; 90: 45-53.
7. Hashmi SK, Allen C, Klaassen R, et al. Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation. Clin Genet 2011; 79: 448-458.
8. Boocock G, Morrison J, Popovic M, et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet 2003; 33: 97-101.
9. Dror Y. Shwachman-Diamond syndrome: Implications for understanding the molecular basis of leukaemia. Expert Rev Mol Med 2008; 10: e38.
10. Alter B, Giri N, Savage S, et al. Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. Br J Haematol 2010; 150: 179-188.
11. Tamary H, Nishri D, Yacobovich J, et al. Frequency and natural history of inherited bone marrow failure syndromes: The Israeli Inherited Bone Marrow Failure Registry. Haematologica 2010; 95: 1300-1307.
12. Bhatla D, Davies S, Shenoy S, et al. Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syndrome. Bone Marrow Transplant 2008; 42: 159-165.
13. Hemel D, Domchek S. Breast cancer predisposition syndromes. Hematol Oncol Clin North Am 2010; 24: 799-814.
14. Walsh T, King M-C. Ten genes for inherited breast cancer. Cancer Cell 2007; 11: 103-105.
15. Shimamura A, Bolyard AA, Marrero TM, et al. Shwachman-Diamond Syndrome: Development of a North American registry to assess long-term outcomes, risk of leukemia and other complications. Blood (ASH Annual Meeting Abstracts). Nov 2009; 114: 1363.