A man with acute myeloid leukemia was later found to have a second, hidden blood disorder — systemic mastocytosis (SM) — after bone marrow tests revealed unusual immune cell activity, according to a recently published case report in the journal Current Problems in Cancer: Case Reports.
The case involved a 41-year-old man who initially went to the hospital after experiencing fatigue, night sweats, purple spots on his skin and bleeding gums. Following blood tests, doctors diagnosed him with acute myeloid leukemia with a genetic feature called the RUNX1::RUNX1T1 fusion, which is usually linked to better treatment outcomes.
But after one cycle of chemotherapy, a bone marrow exam revealed that the patient had clusters of abnormal, spindle-shaped mast cells (a type of white blood cell involved in immune responses). Further tests confirmed the presence of a genetic change called C-KIT D816Y, often seen in people with SM.
The man’s diagnosis was revised to SM with associated hematologic neoplasm (SM-AHN) — a rare subtype of SM, where SM and a blood cancer like acute myeloid leukemia occur together.
Read more about SM testing and diagnosis
At the initial diagnosis, doctors had missed the SM component because they relied mainly on blood samples and didn’t examine the bone marrow closely.
Misdiagnosing SM-AHN and treating only the more obvious blood cancer can negatively affect a patient’s health outcomes, the authors of the case report said.
Being misdiagnosed can also take a serious emotional toll on patients, they added. “Prolonged uncertainty in diagnostic evaluation may cause heightened anxiety and stress. They may experience grief over time lost for early treatment and may even trigger depressive symptoms.”
Furthermore, if a correct diagnosis comes only after an initial mistake, patients may start to lose trust in their doctors, which can affect how willing they are to follow future medical advice, they said.
This case shows how easily SM can be overlooked, especially when another disease like leukemia is present. SM may not cause obvious symptoms early on, so doctors need to look carefully for it.
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