A case involving a patient with mast cell leukemiaMast cell leukemia The most severe subtype of SM, caused by the rapid buildup of immature mast cells in the bone marrow and blood. Mast cell leukemia accounts for less than 5% of SM cases and has a poor prognosis. (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 histamineHistamine A chemical released by mast cells when they are activated. Histamine causes many of the allergy-type symptoms in mastocytosis, including flushing, itching and hives., 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 cellMast cell A type of white blood cell produced in the bone marrow. They help defend against infections and play a key role in allergic reactions. In SM, mast cells become overactive and build up throughout the body. 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 biopsyBone marrow biopsy A procedure to collect a sample of bone marrow using a needle. Often used to examine the characteristics of mast cells and diagnose SM. and elevated tryptaseTryptase A protein enzyme that is primarily produced by mast cells and stored in small pockets within the cells, known as granules. High levels of tryptase are a key indicator of SM. 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 SMAdvanced SM In these subtypes of SM, mast cells begin to damage organs. Advanced SM includes the subtypes aggressive SM, mast cell leukemia and SM with an associated hematological neoplasm., along with aggressive SMAggressive SM A subtype of advanced SM marked by a high mast cell burden that leads to organ damage. Aggressive SM accounts for less than 10% of SM cases. and SM with associated hematologic (myeloid) neoplasm,” the authors wrote.
