Extramedullary Relapse at Diverse Sites in an Acute Myeloid Leukemia with Minimal Differentiation with Simultaneous Presence of t(4;11)(Q21;Q23) and t(7;11) (Q36;P11)

Special Article - Multiple Myeloma

Ann Hematol Oncol. 2016; 3(10): 1116.

Extramedullary Relapse at Diverse Sites in an Acute Myeloid Leukemia with Minimal Differentiation with Simultaneous Presence of t(4;11)(Q21;Q23) and t(7;11) (Q36;P11)

Shi QL¹, Yuan YH¹, Chen LJ¹*, Wu HX¹, Shen WY¹, Qian SX¹, Li JY¹ and Zhu YQ²*

¹Department of Hematology, First Affiliated Hospital of Nanjing Medical University, China

²College of Life Science, Nanjing Normal University, China

*Corresponding author: Chen Lijuan, Department of Hematology, First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, No. 300 Guangzhou Road, Nanjing 210029, China Zhu Yongqiang, College of Life Science, Nanjing Normal University, No. 1 Wenyuan Road, Nanjing 210037, China

Received: July 21, 2016; Accepted: October 14, 2016; Published: October 17, 2016

Abstract

Nonrandom karyotypic changes have been revealed to play a key role in leukemogenesis. Specific karyotypic changes in leukemias have significant diagnostic and prognostic values, and are also associated with clinical manifestations. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is a valid treatment option for high risk acute leukemias. Extramedullary relapse after allo-HSCT has been thought to be associated with a very poor prognosis. Here we present the case and associated literature review of an AML-M0 patient with simultaneous presence of t(4;11)(q21;q23) and a novel translocation t(7;11) (q36;p11) developed extramedullary relapse post-HSCT. t(4;11)(q21;q23) and t(7;11)(q36;p11) are adverse risk of AML-M0. FLAG is a good treatment regimen for this kind of leukemia.

Keywords: Acute myeloid leukemia; Leukemia cells; Extramedullary relapse

Introduction

Nonrandom karyotypic changes have been revealed to play a key role in leukemogenesis. Specific karyotypic changes in leukemias have significant diagnostic and prognostic values, and are also associated with clinical manifestations. Several translocations in myelogenous leukemia, such as t(9;22), t(15;17), t(8;21), etc., have been identified [1-3], leading to the detection of leukemia- specific gene abnormalities. However, many other karyotypic changes remain unclear.

Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is a valid treatment option for a significant subset of patients with acute leukemias [4-6]. The curative effect of allo-HSCT is attributable to its ability to decrease leukemia relapse significantly compared to conventional or high-dose chemotherapy with or without autologous HSCT because of its graft-versus-leukemia (GVL) effect [7,8]. However, disease relapse after allo-HSCT still remains the major cause of treatment failure [9,10]. Extramedullary relapse after allo-HSCT has been thought to be associated with a very poor prognosis. Chromosomal aberrations, such as t(8;21), inv(16), MLL rearrangement are among the predisposing factors of isolated extramedullary relapse [11].

Here we report an AML-M0 patient with simultaneous presence of t(4;11)(q21;q23) and a novel translocation t(7;11) (q36;p11) developed extramedullary relapse post-HSCT and was sensitive to FLAG regimen (fludarabine 25 mg/m2/day and cytarabine 2 g/m2/ day by intravenous infusion on days 1 to 5 and G-CSF 300 μg/day by subcutaneous injection on days 0 to 5).

Case Presentation

A 44-year-old male had suffered from dizziness, fatigue, and exhibited purpura in the legs for about 2 weeks before being admitted to the first affiliated hospital of Nanjing Medical University. Peripheral blood examination showed hemoglobin concentration of 73 g/L, platelet count of 89×109/L, and white blood cell count (WBC) of 4.2×109/L with 5.2% myeloblasts, 20.4% myelocytes, 16.7% neutrophils, 57.7% lymphocytes, and no eosinophilic or basophilic cells. No hepatosplenomegaly or lymphoadenopathy was present. Bone marrow aspiration revealed a hypercellular marrow with 48.8% myeloblasts. Leukemia cells were negative for peroxidase, and weakly positive for periodic acid Schiff (PAS) stain. Flow cytometric analysis was positive for HLA-DR, CD117, CD33, CD13, CD61, CD11b. A diagnosis of acute myeloblastic leukemia with minimal differentiation (AML- M0) was made. The bone marrow cytogenetic analysis by routine R-banding technique after 24 hours culture without stimulation showed clonal abnormalities with the simultaneous presence of t(4;11)(q21;q23), t(7;11) (q36;p11) (Figure 1). This concurrent presence of 2 specific translocations was confirmed by multiplex fluorescence in situ hybridization (M- FISH).

Citation:Shi QL, Yuan YH, Chen LJ, Wu HX, Shen WY, Qian SX, et al. Extramedullary Relapse at Diverse Sites in an Acute Myeloid Leukemia with Minimal Differentiation with Simultaneous Presence of t(4;11)(Q21;Q23) and t(7;11) (Q36;P11). Ann Hematol Oncol. 2016; 3(10): 1116. ISSN : 2375-7965