Acute mast cell leukemia without KIT D816V mutation and lack of CD2 and CD25-a case report of rare entity

Abstract

Systemic mastocytosis (SM) is a rare hematological neoplasm caused by the excessive proliferation of pathological mast cells that accumulate in the bone marrow (BM) and other extracutaneous organs leading to multi-organ damage and failure. Mast cell leukemia (MCL) is a rare form of systemic mastocytosis, accounting for < 1% of all cases of mastocytosis. MCL usually behaves aggressively with poor responses to current treatment options. Here, we report a diagnostic challenge with the leukemic subtype of MCL with a primary suspicion of pancreatic cancer. A cytomorphological, immunophenotypic, and histopathological examination of the bone marrow was performed. The diagnosis was based on the presence of ≥ 20% atypical and immature mast cells in the bone marrow and ≥ 10% mast cells among the peripheral white blood cells. The neoplastic cell population was identified as mast cell lineage by the expression of CD117 and tryptase. Only 3% of neoplastic cells displayed surface markers characteristic for clonal mast cells: CD25 and CD2. The D816V KIT mutation was not found. Neoplastic mast cells expressed CD30, a marker that is currently considered as a new minor criterion for SM. In the presented case, the primary suspicion of pancreatic cancer with osteosclerotic, lung, and pleural metastases was misleading, and a differential diagnosis based on hematological findings was performed. The patient's severe symptoms were likely the result of organ damage from mast cell infiltration. Despite the use of intensive acute myeloid leukemia (AML)-like polychemotherapy, the patient died during the course of post-induction myelosuppression due to bleeding complications.

Keywords: CD25; CD30; KIT mutation; Mast cell leukemia; Tryptase.