Acute promyelocytic leukemia harbouring rare FLT3-TKD and WT1 mutations: A case report

Abstract

The involvement of the central nervous system (CNS) is rare in acute promyelocytic leukemia (APL). The present study reported the case of a 34-year-old male patient with APL that possessed a rare point mutation (p.Asn841Gly, c.2523C>A) in the tyrosine kinase domain of the FMS-like tyrosine kinase 3 (FLT3) gene and a novel Wilm tumor gene mutation (c.1209_1210insT/p.K404X). The patient suffered central nervous system and systemic relapses twice during systemic and intrathecal chemotherapy. At present, the patient is undergoing alternative induction and consolidation therapies, including the administration of FLT3 inhibitor, tetraarsenic tetrasulfide and novel cytotherapy, and is prepared for salvage allogeneic hematopoietic stem cell transplantion (allo-HSCT). The present study indicated that patients with APL that are at a high risk of relapse and unfavorable gene mutations should receive immediate allo-HSCT, whenever possible.

Keywords: FLT3-TKD mutation; WT1 mutation; acute promyelocytic leukemia; central nervous system relapse; multiple relapses; prognosis.

Figure 1.

Magnetic resonance imaging revealing the leukemic linear infiltration in the frontal lobe that was detected in the present patient with acute promyelocytic leukemia (arrows). (A) T1WI; (B) T2WI; (C) fluid attenuation inversion recovery; (D) gadolinium-enhanced. WI, weighted image.

Figure 2.

(A) FLT3-TK domain mutation (p.Asn841Gly, c.2523C>A) and (B) WT1 mutation (c.1209_1210insT/p.K404X) were detected in the peripheral blood and bone marrow samples. The double peaks (arrows) demonstrated the point and insertion mutations. FLT3, FMS-like tyrosine kinase 3; TK, tyrosine kinase; WT1, Wilm tumor; WT, wild type; M, mutation; JM, juxtamembrane; Ins T, insertion T basic group.