A new case report has been published of a patient with gastrointestinal presentation of systemic mastocytosis. The report, published in the Annals of Medicine and Surgery, recommends consideration of gastrointestinal features in the differential diagnosis of this condition.

“If the [gastrointestinal] manifestation presents as the only symptom, because of its nonspecificity, diagnosis of systemic mastocytosis would be extremely difficult and simply ignored,” the authors wrote. “Here we report an unusual case of mastocytosis presented by isolated abdominal pain and simultaneous cecal and appendiceal masses without any symptoms or signs.”

The clinicians report a 63-year-old woman who presented with chronic abdominal pain to a hospital in Tehran, Iran, in 2019. She had no medical history of interest and no symptoms other than pain (such as nausea, vomiting, diarrhea, or weight loss) and her vital signs were normal.

Blood tests revealed mild leukocytosis, and on imaging, a mass in the cecum was found. The mass was resected during hemicolectomy and on analysis, infiltration of neoplastic cells was observed.

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Immunohistochemistry revealed that the tumor cells contained leukocyte common antigen, CD117, CD68, mast cell tryptase, and CD99, leading to the diagnosis of mastocytosis. She was transferred to the intensive care unit but died a few days later.

According to the World Health Organization, systemic mastocytosis requires 1 major and 1 minor criterion or 3 minor criteria to confirm the diagnosis. In this case, the diagnosis was challenging because of the low incidence of systemic mastocytosis and the broad range of possible conditions resulting from the single GI symptom of chronic pain that this patient presented.

The authors note that clinicians should consider systemic mastocytosis as a possible differential diagnosis in the presence of chronic abdominal pain and an intestinal mass with monotonous cell infiltration.

Reference

Javadi A, Nazar E, Momeni N. Rare gastrointestinal presentation of systemic mastocytosis, a case report. Ann Med Surg. Published online July 13, 2022. doi:10.1016/j.amsu.2022.104196