There remain many hurdles in the diagnosis of systemic mastocytosis with an associated myeloid neoplasm (SM-AMN), according to a study recently published in the American Journal of Clinical Pathology.
Studies show that SM-AMN is the most common type of advanced SM. In SM-AMN, SM occurs alongside a separate blood cancer. The category SM-AMN largely overlaps with the subtype SM with an associated hematologic neoplasm (SM-AHN), but only includes blood cancers related to certain cell types.
While there are guidelines that help doctors distinguish between the different SM subtypes, such as those issued by the World Health Organization, in real-world practice finding the correct diagnosis is not always clear.
“SM-AMN represents a diagnostic challenge,” a team of researchers wrote, succinctly summarizing the extraordinary challenge of identifying both the SM and AMN disease components simultaneously.
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The scientists discussed a number of reasons as to why SM-AMN is so challenging to diagnose. First, it is not always straightforward to identify the presence of an AMN in patients who have been diagnosed with SM. The challenge here is that SM and AMN can each mask signs of the other component; the authors noted several cases of patients with both acute myloid leukemia (AML) and SM where the buildup of blast cells in the bone marrow (a common hallmark of AML) hid signs of SM until after treatment for AML was started.
Research indicates that distinguishing advanced SM from indolent SM can also be challenging in SM-AMN. In such cases, doctors attempt to look out for a group of signs known as “C” findings that can be linked to advanced SM.
The authors noted the use of flow cytometry to examine the mast cells may be useful in diagnosing SM-AMN.
Scientists have discovered that clinical suspicions of an AMN may be raised when certain cells are observed. This can only be done with detailed cellular and molecular analysis. Nonetheless, a thorough review of cell types and shapes, as well as bone marrow features, can help doctors reach a quicker diagnosis.
Disease progression in SM-AMN can either take place in the SM component of the disease or the AMN component, which is more often the case.
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