急性早幼粒细胞白血病治疗后，一名患有t(5;14)(q33;q32)的治疗相关髓系肿瘤患者出现TRIP11-PDGFRB融合。

TRIP11-PDGFRB fusion in a patient with a therapy-related myeloid neoplasm with t(5;14)(q33;q32) after treatment for acute promyelocytic leukemia.

作者信息

Kim Hoon-Gu, Jang Ja-Hyun, Koh Eun-Ha

机构信息

Departments of Internal Medicine, Gyeongsang National University School of Medicine, 79 Gangnam-ro, Jinju, Korea.

Green Cross Laboratories, Yongin, Korea.

出版信息

Mol Cytogenet. 2014 Dec 23;7(1):103. doi: 10.1186/s13039-014-0103-6. eCollection 2014.

DOI:10.1186/s13039-014-0103-6

PMID:25606057

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4299380/

Abstract

BACKGROUND

Therapy-related myeloid neoplasm after treatment for acute promyelocytic leukemia (APL) is a relatively infrequent but severe complication. Most therapy-related myeloid neoplasms after treatment for APL are classified as therapy-related myelodysplastic syndrome or therapy-related acute myeloid leukemia. Translocation of 5q31-33, PDGFRB occur rarely in therapy-related myeloid neoplasm and there has been two identified PDGFRB partner genes located at 14q32, TRIP11 and KIAA1509.

RESULTS

The TRIP11-PDGFRB fusion was identified in a patient with therapy-related myeloid neoplasm with t(5;14)(q33;q32) after treatment of APL using conventional cytogenetics, fluorescence in situ hybridization (FISH) and molecular methods. Cytogenetic analysis of the bone marrow aspirate revealed 46, XY, t(5;14)(q33;q32) in all 20 analyzed cells. No other cytogenetic abnormalities were observed. Break-apart FISH analysis demonstrated that rearrangement of PDGFRB at 5q33 was positive in 460 of 500 cells analyzed, while the PML-RARA rearrangement remained undetectable by RT-PCR. Sequencing of RT-PCR products revealed fusion between exon 16 of TRIP11 and exon 11 of PDGFRB. However, the KIAA1509-PDGFRB fusion was not detected by RT-PCR.

CONCLUSION

We firstly demonstrated that therapy-related myeloid neoplasm with TRIP11-PDGFRB fusion was identified after treatment of APL.

摘要

背景

急性早幼粒细胞白血病（APL）治疗后发生的治疗相关髓系肿瘤是一种相对少见但严重的并发症。APL治疗后大多数治疗相关髓系肿瘤被归类为治疗相关骨髓增生异常综合征或治疗相关急性髓系白血病。5q31 - 33易位、PDGFRB在治疗相关髓系肿瘤中很少发生，并且已确定有两个位于14q32的PDGFRB伙伴基因，即TRIP11和KIAA1509。

结果

在一名APL治疗后发生t(5;14)(q33;q32)的治疗相关髓系肿瘤患者中，采用传统细胞遗传学、荧光原位杂交（FISH）和分子方法鉴定出TRIP11 - PDGFRB融合。骨髓穿刺液的细胞遗传学分析显示，在所有20个分析细胞中均为46, XY, t(5;14)(q33;q32)。未观察到其他细胞遗传学异常。断裂FISH分析表明，在分析的500个细胞中有460个5q33处的PDGFRB重排呈阳性，而通过逆转录聚合酶链反应（RT-PCR）未检测到PML - RARA重排。RT-PCR产物测序显示TRIP11的第16外显子与PDGFRB的第11外显子融合。然而，RT-PCR未检测到KIAA1509 - PDGFRB融合。