新型基因在类似急性早幼粒细胞白血病中的报告

A short report of novel gene in resembling acute promyelocytic leukemia.

机构信息

State Key Laboratory of Experimental Hematology, Tianjin, People's Republic of China.

Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, People's Republic of China.

出版信息

Hematology. 2022 Dec;27(1):518-522. doi: 10.1080/16078454.2022.2066825.

DOI:10.1080/16078454.2022.2066825

PMID:35544458

Abstract

BACKGROUND

Resembling acute promyelocytic leukemia (APL) is a unique subtype of APL who sharing clinical, morphological, and immunophenotypic features with typical APL, but lacking evidence of fusion gene and usually insensitive to arsenic trioxide (ATO) and all-trans retinoic acid (ATRA). For years, rearrangement were found in resembling APL continually. The confirmed partner genes of rearrangement included , , , , and . These patients were a group of resembling APL with rare molecular genetic abnormality and unfavorable prognosis. They usually were resistant to ATO and ATRA but partially sensitive to anthracycline-based chemotherapy.

CASE PRESENTATION

We reported a 25-year-old female patient with a novel fusion gene (RARG chr12:53606869: -; chr19: 8527413: + based on GRCh37/hg19 Assembly) through RNA-seq as resembling APL. The patient with was benefited from a combined chemotherapy homoharringtonine, cytarabine, and aclacinomycin (HAA) regimen with no relapse.

DISCUSSION AND CONCLUSIONS

rearrangement resembling APL are various. The treatment should be switched from ATRA/ATO to AML combined chemotherapy regimen early.

摘要

背景

类似于急性早幼粒细胞白血病（APL）的独特亚型，与典型 APL 具有相似的临床、形态学和免疫表型特征，但缺乏融合基因的证据，通常对三氧化二砷（ATO）和全反式维甲酸（ATRA）不敏感。多年来，一直发现类似于 APL 的重排。已确定的重排的伙伴基因包括、、、、和。这些患者是一组具有罕见分子遗传学异常和不良预后的类似于 APL 的患者。他们通常对 ATO 和 ATRA 耐药，但对蒽环类为基础的化疗部分敏感。

病例介绍

我们通过 RNA-seq 报道了一例 25 岁女性患者，其存在新的融合基因（RARG chr12:53606869: -; chr19: 8527413: +，基于 GRCh37/hg19 组装），符合类似于 APL。该患者接受了包含高三尖杉酯碱、阿糖胞苷和阿克拉霉素（HAA）的联合化疗方案，没有复发。