{"title":"成人B淋巴细胞白血病合并ider(9)(q10)t(9;22)(q34;q11.2)和der(19)t(1;19)(q23;p13.3) 1例。","authors":"Soon Il Jung, Hee Soon Cho, Chae Hoon Lee, Bo-Chan Jung","doi":"10.3343/kjlm.2010.30.6.585","DOIUrl":null,"url":null,"abstract":"<p><p>In B lymphoblastic leukemia/lymphoma (B-ALL/LBL), t(9;22)(q34;q11.2) and t(1;19)(q23;p13.3) are recurrent cytogenetic abnormalities. The concurrent occurrence of both abnormalities is very rare, and only 3 cases have been previously reported. Here, we report a case of adult B-ALL with ider(9)(q10)t(9;22)(q34;q11.2) and der(19)t(1;19)(q23;p13.3). A literature review revealed that ider(9) (q10)t(9;22) is a rare variant of t(9;22) with a deletion of the short arm of chromosome 9. Fifteen cases of ider(9)(q10)t(9;22) have been reported. This abnormality is specific to precursor B-lymphoid neoplasms, such as B-ALL or B-lymphoid blast phase of CML, and is associated with disease progression or short survival. The cytogenetic abnormality t(1;19) is also specific to B-ALL. In most instances of t(1;19), TCF3 is fused to PBX1; however, a few cases have identical translocations but no TCF3-PBX1 fusion, as was observed in our patient. We describe the first case of ider(9)(q10)t(9;22) in combination with TCF3-PBX1 negative t(1;19). The patient underwent imatinib therapy in addition to intensive chemotherapy, but failed to achieve remission.</p>","PeriodicalId":17890,"journal":{"name":"Korean Journal of Laboratory Medicine","volume":"30 6","pages":"585-90"},"PeriodicalIF":0.0000,"publicationDate":"2010-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3343/kjlm.2010.30.6.585","citationCount":"1","resultStr":"{\"title\":\"A case of adult B lymphoblastic leukemia with ider(9)(q10)t(9;22)(q34;q11.2) and der(19)t(1;19)(q23;p13.3).\",\"authors\":\"Soon Il Jung, Hee Soon Cho, Chae Hoon Lee, Bo-Chan Jung\",\"doi\":\"10.3343/kjlm.2010.30.6.585\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>In B lymphoblastic leukemia/lymphoma (B-ALL/LBL), t(9;22)(q34;q11.2) and t(1;19)(q23;p13.3) are recurrent cytogenetic abnormalities. The concurrent occurrence of both abnormalities is very rare, and only 3 cases have been previously reported. Here, we report a case of adult B-ALL with ider(9)(q10)t(9;22)(q34;q11.2) and der(19)t(1;19)(q23;p13.3). A literature review revealed that ider(9) (q10)t(9;22) is a rare variant of t(9;22) with a deletion of the short arm of chromosome 9. Fifteen cases of ider(9)(q10)t(9;22) have been reported. This abnormality is specific to precursor B-lymphoid neoplasms, such as B-ALL or B-lymphoid blast phase of CML, and is associated with disease progression or short survival. The cytogenetic abnormality t(1;19) is also specific to B-ALL. In most instances of t(1;19), TCF3 is fused to PBX1; however, a few cases have identical translocations but no TCF3-PBX1 fusion, as was observed in our patient. We describe the first case of ider(9)(q10)t(9;22) in combination with TCF3-PBX1 negative t(1;19). The patient underwent imatinib therapy in addition to intensive chemotherapy, but failed to achieve remission.</p>\",\"PeriodicalId\":17890,\"journal\":{\"name\":\"Korean Journal of Laboratory Medicine\",\"volume\":\"30 6\",\"pages\":\"585-90\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2010-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.3343/kjlm.2010.30.6.585\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Korean Journal of Laboratory Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3343/kjlm.2010.30.6.585\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Korean Journal of Laboratory Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3343/kjlm.2010.30.6.585","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 1
摘要
在B淋巴母细胞白血病/淋巴瘤(B- all /LBL)中,t(9;22)(q34;q11.2)和t(1;19)(q23;p13.3)是复发性细胞遗传学异常。这两种异常同时发生是非常罕见的,以前只报道过3例。在这里,我们报告一例成人B-ALL合并ider(9)(q10)t(9;22)(q34;q11.2)和der(19)t(1;19)(q23;p13.3)。文献回顾发现,ider(9) (q10)t(9;22)是t(9;22)的一种罕见变异,9号染色体短臂缺失。已报告15例ider(9)(q10) ~(9;22)。这种异常是前体b淋巴样肿瘤所特有的,如CML的B-ALL或b淋巴样母细胞期,并且与疾病进展或短生存期有关。细胞遗传学异常t(1;19)也是B-ALL特异性的。在t(1;19)的大多数情况下,TCF3融合到PBX1;然而,少数病例有相同的易位,但没有TCF3-PBX1融合,正如我们在患者中观察到的那样。我们描述了第一例ider(9)(q10)t(9;22)与TCF3-PBX1 -负t(1;19)结合的病例。患者接受了伊马替尼治疗和强化化疗,但未能达到缓解。
A case of adult B lymphoblastic leukemia with ider(9)(q10)t(9;22)(q34;q11.2) and der(19)t(1;19)(q23;p13.3).
In B lymphoblastic leukemia/lymphoma (B-ALL/LBL), t(9;22)(q34;q11.2) and t(1;19)(q23;p13.3) are recurrent cytogenetic abnormalities. The concurrent occurrence of both abnormalities is very rare, and only 3 cases have been previously reported. Here, we report a case of adult B-ALL with ider(9)(q10)t(9;22)(q34;q11.2) and der(19)t(1;19)(q23;p13.3). A literature review revealed that ider(9) (q10)t(9;22) is a rare variant of t(9;22) with a deletion of the short arm of chromosome 9. Fifteen cases of ider(9)(q10)t(9;22) have been reported. This abnormality is specific to precursor B-lymphoid neoplasms, such as B-ALL or B-lymphoid blast phase of CML, and is associated with disease progression or short survival. The cytogenetic abnormality t(1;19) is also specific to B-ALL. In most instances of t(1;19), TCF3 is fused to PBX1; however, a few cases have identical translocations but no TCF3-PBX1 fusion, as was observed in our patient. We describe the first case of ider(9)(q10)t(9;22) in combination with TCF3-PBX1 negative t(1;19). The patient underwent imatinib therapy in addition to intensive chemotherapy, but failed to achieve remission.