Case Report Henrique Bittencourt1 Antonio Lucio Teixeira Junior2 Ana Beatriz Firmato Glória3 Ana Flávia Leonardi Tiburcio Ribeiro3 Evandro Maranhão Fagundes4 1Hematology and Oncology Service, Centro Hospitalar Universitário Sainte-Justine, Universidade de Montreal, Montreal, AC, Canada 2Neurology Department, Hospital das Clinicas da Universidade Federal de Minas Gerais – UFMG, Belo Horizonte, MG, Brazil 3Hematology Department, Hospital das Clinicas da Universidade Federal de Minas Gerais – UFMG, Belo Horizonte, MG, Brazil 4Hematology Service, Hospital das Clínicas da Universidade Federal de Minas Gerais – UFMG, Belo Horizonte, MG,Brazil Conflict-of-interest disclosure: The authors declare no competing financial interest Submitted: 6/24/2011 Accepted: 10/4/2011 Corresponding author: Henrique Bittencourt Hematology-Oncology Department – CHU Sainte-Justine 3175 Ch de la Cote Sainte-Catherine H3T 1C5 – Montreal, AC, Canadá hn.bittencourt@umontreal.ca www.rbhh.org or www.scielo.br/rbhh DOI: 10.5581/1516-8484.20110126 478 Acute promyelocytic leukemia presenting as an extradural mass Acute promyelocytic leukemia is potentially a highly curable type of leukemia that usually presents with pancytopenia, coagulopathies and bleeding. We describe a case of an unusual presentation of acute promyelocytic leukemia. A 53 year-old male was admitted complaining of pain and weakness in his legs. He presented at examination a spastic paraparesis with a sensitive level at the eighth thoracic medullar (T8) segment. Magnetic resonance imaging showed a posterolateral extradural mass from T6 through T8 segments with medullar compression. A complete blood count showed anemia, thrombocytopenia and the presence of promyelocytes and blasts. Marrow examination was compatible with the diagnosis of acute promyelocytic leukemia by cytogenetics and polymerase chain reaction for the PML-RARα gene. He was treated with all-trans-retinoic acid therapy plus daunorubicin and presented an all-trans-retinoic acid syndrome. Despite hematological remission, the patient presented neurologic deterioration and had to be treated with radiotherapy (total dose 3000 cGy) of the extradural lesion. The patient evolved with severe sepsis and died without any recovery from his neurologic deficit. Extramedullary infiltration is a very rare complication in acute promyelocytic leukemia. Most cases are related to relapse after initial treatment with all-trans-retinoic acid. The skin and the central nervous system are the most frequently involved sites. This is possibly the first case reported of this condition in which the patient had a symptomatic extradural mass. Keywords: Leukemia, promyelocytic, acute; Sarcoma, myeloid; Spinal cord neoplasms; Case reports Introduction Acute promyelocytic leukemia (APL) is a particular type of leukemia that usually presents with pancytopenia, coagulopathies and bleeding and is characterized by the presence of a translocation between chromosomes 15 and 17 [t(15;17)(q22q21)] identified by cytogenetics and a PML-RAR gene by PCR. APL is a highly curable disease with a combination of all-trans-retinoic acid (ATRA) and an anthracycline (idarubicin or daunorubicin), the currently used treatment,(1) inducing complete remission in almost all patients. Extramedullary disease at presentation of APL is extremely rare. We describe a case of an unusual initial presentation of APL as an extradural lesion. Case report A 53-year-old male was admitted to the emergency department. He complained of four-month progressive fatigue, and pain and weakness of his legs for about one week. He had been taking diclofenac (a NSAID) for the pain but without relief. He presented neither fever nor other symptoms (weight loss, night sweats). On examination, spastic paraparesis was confirmed with a sensitive level at the eight thoracic medullar (T8) segment. He was slightly pale and had a gingival hemorrhage, ecchymosis of the left thigh and hepatomegaly. Spinal magnetic resonance imaging (MRI) showed a posterolateral extradural mass from T6 through T8 segments with medullar compression (Figure 1). A complete blood count showed anemia (hemoglobin 10.6 g/dL), thrombocytopenia (12 x 109/L) and white blood count of 7.5 x 109/L (with 4.8 and 1.3 absolute promyelocyte and blast counts, respectively). Fibrinogen was below normal limits (1.04 g/L: normal range: 1.8-3.0 g/L), the international normalized ratio was 1.86 (normal range: 0.8-1.2) and the partial thromboplastin time was within normal limits. Electrolytes and the hepatic and renal functions were within the normal range. Uric acid (588 µmol/L) and lactate dehydrogenase (712 UI/L: normal ≤ 610 UI/L) were both elevated. A bone marrow biopsy showed hypercellularity with a massive infiltration of promyelocytes (with palisades of Auer rods) compatible with the diagnosis of APL. Qualitative polymerase chain reaction (PCR) for the PML-RARα gene was positive and a cytogenetic examination identified a t(15;17)(q22q21) abnormality. Rev Bras Hematol Hemoter. 2011;33(6):478-80