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• Vol.47 No.1
• CLINICA NEUROL, 47: 27−31, 2007
• Vol.47 No.1 contents

Case Report

Detection of novel rearrangement of the JC virus gene in a case of progressive multifocal leukoencephalopathy with adult T-cell leukemia

Takashi Matsuo, M.D.¹⁾, Itaru Kyoraku, M.D.¹⁾, Kazutaka Shiomi, M.D.¹⁾, Seiichiro Sugimoto, M.D.¹⁾, Huai-Ying Zheng, M.D.²⁾ and Masamitsu Nakazato, M.D.¹⁾

¹⁾Neurology, Respirology, Endocrinology and Metabolism, Internal Medicine, Faculty of Medicine, University of Miyazaki
²⁾Department of Urology, Faculty of Medicine, University of Tokyo

A 53-year-old man with adult T-cell leukemia (ATL) developed progressive left hemiparesis and left homonymous hemianopsia. Magnetic resonance imaging (MRI) one month later showed multiple high-intensity lesions in the white matter of both occipital lobes, with predominance in the right side. Detection of JCV genome with polymerase chain reaction in his cerebrospinal fluid subsequently confirmed the diagnosis of progressive multifocal leukoencephalopathy (PML). He was admitted to our hospital. The serum level of soluble interleukin-2 receptor in the patient increased, and both edema and new Gd-enhanced lesions were observed in the cortex of the occipital lobe. He was treated with systemic administrations of Pirarubicin, Cyclophosphamide, and Prednisolone, as well as intrathecal injection of Methotrexate and Cytarabine. Although these treatments temporarily alleviated the symptoms of PML, the ATL spread to the liver and kidney. He died of multiple organ failure. Analysis of his JCV genes revealed that there were three types of rearrangements in the regulatory domains of the JCV genes. All three types lacked the domain B, and two had duplicate domain A. This is the first report of the simultaneous detection of three different types of rearrangements in JCV genes in a single patient. It has been reported that white-matter lesions caused by typical PML are not enhanced in Gd-MRI. However, the lesions seen in this patient were enhanced in Gd-MRI. Such enhancement might be attributable to the modification of the lesions through the direct invasion of ATL cells to the central nervous system.

(CLINICA NEUROL, 47: 27−31, 2007)
key words: PML, ATL, JCV, deleted mutation, rearrangement

(Received: 22-May-06)