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Epstein‐Barr virus associated B‐cell lymphoma of brain developing in myelodysplastic syndrome with c‐kit mutation (Try‐557 → stop)
Author(s) -
Kuwahara Yusuke,
Hirata Ayumu,
Miwa Hideaki,
Munakata Satoru,
Ueda Shuji,
Kanakura Yuzuru,
Maruno Motohiko,
Hongyo Tadashi,
Nomura Taisei,
Aozasa Katsuyuki
Publication year - 2000
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/1096-8652(200011)65:3<234::aid-ajh10>3.0.co;2-e
Subject(s) - lymphoma , cancer research , epstein–barr virus , gene mutation , myelodysplastic syndromes , pathology , mutation , biology , virus , bone marrow , medicine , virology , gene , biochemistry
The first case of B‐cell lymphoma of brain in a patient with myelodysplastic syndrome (MDS) was reported. A 68‐year‐old man was admitted because of anemia, fever, and thrombocytopenia and was diagnosed as having MDS (refractory anemia with excess of blasts) on the basis of the findings of bone marrow aspiration and chromosomal analysis. The patient was followed up without chemotherapy, but a brain tumor appeared after 3 years. Histologic and immunohistologic examinations revealed diffuse large B‐cell lymphoma. Mutations of the c‐kit proto‐oncogene (stem cell factor receptor) and the p53 tumor‐suppressor gene were examined in the MDS lesion and malignant lymphoma (ML) by the polymerase chain reaction‐single‐strand conformational polymorphism (PCR‐SSCP) method followed by direct sequencing. The p53 mutation was not found in either MDS or ML, but a nonsense mutation (Try‐557 → stop) in exon 11 of the c‐kit, which might lead to dysfunction of tyrosine kinase activity, was detected in MDS. This is the first report of c‐kit mutation in MDS. Epstein‐Barr virus (EBV) genome was demonstrated in the nucleus of brain ML cells by in situ hybridization with EBV‐encoded RNA‐1 probe. Immunohistochemistry showed that the tumor cells expressed latent infection gene products, including EBV nuclear antigen‐2 and latent membrane protein‐1. This pattern of latent gene expression was Lat III, which is usually found in malignant lymphomas developing in immunocompromised hosts. These findings suggest that a profound pancytopenia in MDS resulted in an immunodeficient condition, after which EBV‐positive B‐cell lymphoma of brain developed. Am. J. Hematol. 65:234–238, 2000. © 2000 Wiley‐Liss, Inc.