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J Korean Cancer Assoc > Volume 28(5); 1996 > Article
Journal of the Korean Cancer Association 1996;28(5): 927-936.
피부병변 및 전신 림프절 종대로 발현된 Ph 염색체 음성 , bcr / abl 유전자 재배열 양성인 만성 골수성 백혈병 1 예
이영우, 권교선, 김경태, 김용조, 성주병, 장은정, 황춘홍, 류백렬, 김태유, 임영혁, 강윤구, 이진오, 강태웅
A Case of Ph chromosome - Negative , bcr / abl Rearrangement - Positive Chronic Myelogenous Leukemia Prasenting with Dermopathy and Lymphadenopathy
Young Wo Lee, Gyo Seon Kwun, kyung Tae Kim, Young Cho Kim, Ju Byeung Sung, Eun Jung Jang, Choon Hong Hwnag, Baek Yeol Ryoo, Tae You Kim, Young Hyuck Im, Yoon Koo Kang, Jhin Oh Lee, Tae Woong Kagn
Chronic myelogenous leukemia(CML) is a clonal stem cell disorder, characterized by markedly increased myelopoiesis and the presence of the Philadelphia(Ph) chromosome. Ph chromosome, the result of a translocation between the abl proto-oncogene on chromosome 9 and the bcr gene on chromosome 22, is found in more than 95% of CML patients. The remaining 5% of patients are classified as Ph chromosome-negative CML and the bcr/abl gene rearrangement is detectable in approximately 50% of these patients. These Ph chromosome-negative, bcr/abl rearrangement-positive patients have clincal course and prognosis very similar to those of Ph chromosome-positive CML patients. We experienced a case of Ph chromosome-negative, bcr/abl rearrangement-positive CML presenting with multiple skin lesions and lymphadenopathy in a 59-years-old man. Bone marrow aspiration and biopsy showed typical features of CML in chronic phase. Skin and lymph node biopsies showed extramedullary leukemic cell infiltration, suggesting aggressive phase of CML. While the chramosome study revealed normal karyotype, RT-PCR analysis revealed bcr/abl fusion transcripts. In spite of chemotherapy, he expired 13 months after diagnosis.
Key words: CML, Dermopathy, Lymphadenopathy, Philadelphia chromosome, bcr/abl rearrangement, PCR
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