Systemic mastocytosis associated with t(8;21)(q22;q22) acute myeloid leukemia

• Authors: Sheeja T. Pullarkat, David Geffen School of Medicine at UCLA; Vinod Pullarkat, City of Hope National Medical Center; Steven H. Kroft, Medical College of Wisconsin; Carla S. Wilson, University of New Mexico; Arshad N. Ahsanuddin, Emory University; Karen Mann, Emory University; Maung Thein, University of Southern California Keck School of Medicine; Wayne W. Grody, David Geffen School of Medicine at UCLA; Russell K. Brynes, University of Southern California Keck School of Medicine
• Journal Title: Journal of Hematopathology
• Volume: Volume 2, Number 1
• Publisher: Springer Verlag (Germany) | 2009-12-01, Pages 27-33
• Type of Work: Article | Final Publisher PDF
• Publisher DOI: http://doi.org/10.1007/s12308-009-0023-2
• Subjects: Health Sciences, Pathology; Health Sciences, General
• Keywords: Systemic mastocytosis; Acute myeloid leukemia; KIT mutations; Pathogenesis; Translocation (8;21); Prognosis

Abstract

Although KIT mutations are present in 20-25% of cases of t(8;21)(q22;q22) acute myeloid leukemia (AML), concurrent development of systemic mastocytosis (SM) is exceedingly rare. We examined the clinicopathologic features of SM associated with t(8;21)(q22;q22) AML in ten patients (six from our institutions and four from published literature) with t(8;21) AML and SM. In the majority of these cases, a definitive diagnosis of SM was made after chemotherapy, when the mast cell infiltrates were prominent. Deletion 9q was an additional cytogenetic abnormality in four cases. Four of the ten patients failed to achieve remission after standard chemotherapy and seven of the ten patients have died of AML. In the two patients who achieved durable remission after allogeneic hematopoietic stem cell transplant, recipient-derived neoplastic bone marrow mast cells persisted despite leukemic remission. SM associated with t(8;21) AML carries a dismal prognosis; therefore, detection of concurrent SM at diagnosis of t(8;21) AML has important prognostic implications.