A case report accompanied by current insights on the management of mast cell leukemia (MCL), a rare systemic mastocytosis (SM) subtype, was recently published in Frontiers in Oncology.
The case highlights the challenges of diagnosing and managing MCL, which does not have standardized treatment guidelines and has been the subject of limited research.
“Mast cell leukemia (MCL) is the rarest subtype of systemic mastocytosis (SM), accounting for less than 1% of all mastocytosis cases,” the authors wrote. “First reported by Joachim in 1906, only four extensive studies have systematically described MCL to date.”
Initial symptoms and diagnosis
The case involved a 50-year-old man who sought care after experiencing fever and fatigue for four months. Other symptoms included diarrhea two to three times daily and unexplained weight loss. An initial physical examination revealed he had an enlarged spleen (splenomegaly), and laboratory testing showed he had severe anemia. These findings prompted physicians to admit him to the hospital for further examination.
After admission, a blood smear test showed abnormal mast cell infiltration. This led the physicians to suspect the patient had SM or hematological malignancy. The patient underwent a bone marrow biopsy, which found mast cells constituting more than 75% of the bone marrow cells. The cells also had an abnormal form, with irregular nuclei, numerous red-purple granules, and a large size. Overall, these findings suggested malignancy.
Subsequent testing of tissue samples showed signs consistent with SM, which was enough to confirm the diagnosis of MCL.
Read more about SM testing and diagnosis
Treatment and survival
The patient received a blood transfusion upon admission to the hospital due to his severe anemia. After receiving the MCL diagnosis, he started treatment with corticosteroids and antihistamines, according to current guidelines. Two weeks later, the patient reported a significant improvement in nearly all of his symptoms.
The patient was offered additional therapies with hydroxyurea, α-interferon, cladribine and allogeneic hematopoietic stem cell transplantation. However, he turned down these treatments because of financial concerns.
Despite the unfavorable prognosis associated with MCL, the patient is stable and currently doing well with treatments to ease his symptoms.
“This case underscores the complexities associated with diagnosing and treating MCL,” the authors wrote. “The rarity of MCL and its often nonspecific early symptoms contribute to the difficulty in accurately determining its incidence, with comprehensive reviews of its clinical features being scarce.”
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