From this website: http://www.pathologyoutlines.com/bonemarrow.html
Shwachman-Diamond syndrome and bone marrow
Rare autosomal recessive childhood stem cell disorder with peripheral cytopenia (particularly neutropenia), ineffective hematopoiesis, and variable marrow cellularity; also pancreatic insufficiency with pancreatic fatty infiltration
Frequency develop aplastic anemia, myelodysplastic syndrome or acute myeloid leukemia
May be a myelodysplastic disorder from inception (Archives 2002;126:1157)
Laboratory: low serum isoamylase
Case reports: with successful bone marrow transplant (Eur J Pediatr 1999;158:995)
Micro-bone marrow: hypocellular; scattered mild dysplastic changes in all cell lines; may have prominent hematogones (Archives 2000;124:1379)
Micro images: histology and immunohistochemistry; various images
Positive stains: p53
Molecular: mutations in Shwachman Bodian Diamond syndrome gene in 90% (Blood 2004;104:3588)
References: Blood 1999;94:3048, Archives 2002;126:452, OMIM 260400, eMedicine, Wikipedia
