Maxillofacial mass as the first presentation of acute lymphoblastic leukemia in a nine-year-old girl

A nine-year-old girl complained of a maxillofacial mass and mild fever lower than 37.5 degrees C. A solid mass was detected in the right maxillary fossa by CT and sonographic examination, and the tumor extended backward into the infratemporal fossa without bony destruction. Laboratory studies showed a white blood cell (WBC) count of 31.6 x 10(9)/L, which increased progressively to 50.0 x 10(9)/L over the next several days. Peripheral blood smear revealed 92% lymphoblast with uneven bulk. A biopsy through the right labiogingival groove disclosed a submucosal homogeneous mass. Histologic examination under the microscope revealed atypical mononuclear cells with obvious atypia and nuclear divisions. Bone marrow puncture showed atypical lymphocytes with active proliferation. Immune phenotypic analysis by flow cytometry showed that malignant cells were positive for CD19, CD34, HLA-DR, CD38, CD22, CD58, CD45 and CD56. Real time RT-PCR revealed positive BCR/ABL arrangement. High-risk ALL was diagnosed and four stages of chemotherapies were given for nearly three years. After the induction of the chemotherapy, the facial mass disappeared. A bone marrow biopsy revealed that CR had been achieved since a month after chemotherapy's onset. The initial presentation of ALL as a maxillofacial mass is exceedingly rare. To the best of the authors' knowledge, this is the first reported case of ALL presenting as a maxillofacial lesion. (C) 2009 Elsevier Ireland Ltd. All rights reserved.