Bone marrow nonneoplastic

Alterations in cellularity

Shwachman-Diamond syndrome

Last author update: 1 April 2013
Last staff update: 22 July 2019

Copyright: 2002-2019,, Inc.

PubMed Search: Bone marrow Shwachman-Diamond syndrome [title]

Dragos C. Luca, M.D.
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Cite this page: Luca DC. Shwachman-Diamond syndrome. website. Accessed February 23rd, 2024.
Definition / general
  • Also known as Shwachman-Bodian-Diamond syndrome (SBDS)
  • Rare autosomal recessive childhood stem cell disorder with peripheral cytopenia (particularly neutropenia), ineffective hematopoiesis, variable marrow cellularity; also pancreatic exocrine insufficiency with pancreatic fatty infiltration
  • 25% have bone abnormalities (metaphyseal chondrodysplasia leading to short stature)
  • Often considered a congenital neutropenia but 25% develop aplastic anemia; may be a myelodysplastic disorder from inception (Arch Pathol Lab Med 2002;126:1157)
Clinical features and diagnosis
  • Additional clinical findings: intellectual disability, facial dysmorphism, dental anomalies, ichthyosis, thoracic deformities
  • Often presents with infections at birth due to neutropenia, also malabsorption (steatorrhea)
  • Normochromic normocytic anemia, increased HgF levels, thrombocytopenia
  • Low serum isoamylase and trypsinogen
Case reports
Treatment and prognostic factors
  • 25% develop aplastic anemia, 7% develop myelodysplastic syndrome or acute myeloid leukemia
  • Supportive treatment (G-CSF, transfusions, pancreatic enzyme replacement)
  • Orthopedic management of skeletal deformities
  • Hematopoietic stem cell transplant may be curative
  • Variable clinical course: pancreatic insufficiency may improve with time but bone marrow failure tends to progress
Microscopic (histologic) description
  • Hypocellular marrow; scattered mild dysplastic changes in all cell lines; may have prominent hematogones (Arch Pathol Lab Med 2000;124:1379)
  • May demonstrate shift to immaturity in myeloid series
  • Variable bone marrow cellularity including normocellular and even occasional hypercellular cases
  • Erythroid and megakaryocytic lineages typically preserved initially
Microscopic (histologic) images

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Bone marrow aspirate

Decreased bone marrow cellularity

Positive stains
Molecular / cytogenetics description
  • Mutations in Shwachman-Bodian-Diamond syndrome (SBDS) gene (7q11) in 90% (Blood 2004;104:3588)
  • Two common gene mutations account for 75% of cases due to gene conversion into a pseudogene that is 97% homologous to the normal SBDS gene
  • Genetic testing by sequencing the 5 exons of SBDS: at least one converted allele in 90% of patients, 2 converted alleles in 60% (mainly involving exons 2 and 3)
  • Development of MDS / AML mostly associated with chromosome 7 abnormalities
Differential diagnosis
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