Physicians presented the case of a patient with aleukemic mast cell leukemia, an aggressive form of systemic mastocytosis, in Annals of Allergy, Asthma & Immunology. 

The case details a 65-year-old man with diarrhea, flushing, and rash in the upper extremities. He also complained of fatigue and anorexia. He claims to have suffered from these symptoms for the last month. 

Laboratory investigations revealed that he had pancytopenia and hypogammaglobulinemia. In addition, he had elevated levels of creatinine with proteinuria, as well as elevated levels of alkaline phosphatase. Imaging studies revealed splenomegaly, ascites, and a left humeral lytic focus. 

A bone marrow biopsy was carried out that revealed 60% blasts/neoplastic mast cells and 6% peripheral blasts. His serum tryptase levels were 1684 ng/mL, and he was negative for peripheral KIT D816V. 

Read more about systemic mastocytosis etiology

“This patient met multiple criteria considered to be high risk under various systemic mastocytosis scoring systems, including age > 60, pancytopenia, and elevated alkaline phosphatase and tryptase,” the authors wrote. 

The patient’s physicians initiated pulse-dose steroids and discussed the possibility of starting chemotherapy and midostaurin. However, the patient’s clinical condition deteriorated rapidly; he soon had multiorgan failure and died 11 days after diagnosis. 

Systemic mastocytosis is a rare disorder in which clonal mast cells infiltrate one or more organ systems. Prompt recognition is crucial for survival, given that median survival is a mere 2 to 6 months. 

Reference

Ender E, Dages K, Pitlick M, Voelker D, Pongdee T. Mast cell leukemia: a case report. Ann Allergy Asthma Immunol. 2022;129:S164. doi:10.1016/j.anai.2022.08.989