Dr. Melvin Freedman,SCNIR, "Neutropenia Support Assoc. Inc., Volume 9, Winter 1997"

Approximately 10% of SCN patients with the congenital or Kostmann’s form of Neutropenia have developed myelodysplastic syndrome (MDS) and/or acute myeloblastic leukemia (AML). SCNIR research studies have shown that marrow cells of patients who have developed MDS/AML have also showed chromosome abnormalities and other cellular changes indicative of the malignant transformation. Using this knowledge, the SCNIR recommends that all patients with congenital or Kostmann’s Neutopenia receiving G-CSF have an annual bone marrow evaluation for microscopic inspection of the specimen, and for chromosome and possibly other studies that may identify those patients early who are at risk of MDS/AML. This recommendation also applies to patients with Shwachman-Diamond syndrome because of their predisposition to MDS/AML. Early detection will allow the initiation of a treatment plan before overt disease, which is more difficult to manage, becomes manifested.

Since MDS/AML has not yet been seen in SCN patients with glycogen storage disease type 1b., with cyclic Neutropenia, or with idiopathic forms of Neutropenia, annual bone marrow testing for these patients can be waived at the discretion of physician and patient, but careful, serious monitoring of blood counts and physical status should continue.