Treatment refractory mast cell leukemia with dominant gastrointestinal manifestation and concomitant skin symptoms: A...

Mast cell leukemia (MCL), a subtype of systemic mastocytosis (SM), is an extremely rare clinical entity characterized by a very poor prognosis. Chemotherapy, tyrosine kinase inhibitors, and allogeneic hematopoietic cell transplantation are the only treatment options, but they cannot provide the desired outcomes in most cases of MCL. However, other types of SM can be successfully treated. The disease has no specific manifestation, but gastroenterological symptoms are present in most cases.

The authors, hereby, report a case of a 46-year-old female patient diagnosed with MCL-the rarest subtype of SM. The patient presented to the gastroenterology clinic with multiple, various, and unspecific gastroenterological symptoms. Concomitance of skin lesions significantly contributed to a relatively prompt diagnosis. The serum tryptase level was extremely high and bone the marrow aspirate showed an infiltration of atypical mast cells. The disease was rapidly progressive and primary refractory to chemotherapy and the patient succumbed to the illness about a month after the initiation of treatment.

Despite its "hematological nature", MCL, in most cases presents dominantly with unspecific gastroenterological symptoms. Thus, a high disease awareness among physicians other than hematologists is necessary to improve treatment outcomes. Serum tryptase level, due to its non-invasive nature and easy access, may serve as an initial step to estimate the probability of mastocytosis.