A case involving a patient with mast cell leukemia (MCL), a rare subtype of systemic mastocytosis (SM), has been recently reported in the World Journal of Clinical Cases.
SM is a disease in which the excessive proliferation and infiltration of mast cells in tissues causes varying severity clinical manifestations. Under normal conditions, mast cells secrete substances such as heparin and histamine, critical in inflammatory responses against infection. However, in patients with SM, these substances are released without proper stimuli.
“Multiple and various non-specific symptoms are both effects of organ infiltration (e.g., hepatosplenomegaly, malabsorption, peripheral blood cytopenias, osteolytic lesions, and pathological fractures) and the release of mast cell mediators such as histamine (skin symptoms, diarrhea, vomiting, peptic ulcers),” the authors wrote.
MCL is the rarest SM subtype; it is a severe condition characterized by severe bone marrow infiltration that hinders its ability to produce red blood cells, white cells, platelets, liver infiltration with liver damage, and severe gastrointestinal compromise, leading to a malabsorption syndrome. The diagnostic hallmark of the disease is mast cells comprising 10% of the bone marrow.
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The case involved a 46-year-old woman who presented with progressive weakness and weight loss. Other symptoms included night sweats, lumbar pain, frequent vomiting, and diarrhea.
Initial laboratory examination revealed anemia and a reduced platelet count (thrombocytopenia), and abdomen ultrasound showed increased liver size (hepatomegaly). The patient visited the emergency room repeatedly in light of constant complaints.
In one of the visits, the physicians performed a CT scan that revealed a vertebral fracture, hepatomegaly, engrossed spleen (splenomegaly), as well as focal liver lesions. An endoscopy revealed multiple hemorrhagic lesions in the stomach. Due to the persistence of symptoms, the gastroenterology department admitted the patient.
During her admission, the doctors excluded several causes of anemia, such as iron deficiency or vitamin B deficiency. Further CTs revealed more bone lesions that suggested an underlying cancer.
The MCL diagnosis was finally confirmed with a bone marrow biopsy and elevated tryptase levels in the blood. The patient was then transferred to the hematology department and, despite receiving appropriate treatment, died a month after diagnosis.
“As mentioned above, SM is a rare medical condition, with MCL most likely being its rarest subtype. It belongs to the group of advanced SM, along with aggressive SM and SM with associated hematologic (myeloid) neoplasm,” the authors wrote.
