一名婴儿急性淋巴细胞白血病患者复发时同时出现导致嵌合型MLL-AFF1的11q23易位和第二次易位[t(9;21)(p13;p11.2)]：病例报告

Simultaneous involvement of 11q23 translocation resulting in chimeric MLL-AFF1 and a second translocation [t (9;21) (p13; p11.2)] in an infant acute lymphoblastic leukemia patient at relapse: A case report.

作者信息

Liu Guangming, Lu Xianglan, Kim Young Mi, Wang Xianfu, Li Shibo, Liu Yuanyuan

机构信息

Department of Gastroenterology, The First Hospital of Jilin University, Changchun, People's Republic of China Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK.

出版信息

Medicine (Baltimore). 2018 May;97(21):e10874. doi: 10.1097/MD.0000000000010874.

DOI:10.1097/MD.0000000000010874

PMID:29794792

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6392770/

Abstract

RATIONALE

Three-way translocations occasionally occur in MLL-AFF1 fusion and other fusion gene. However, the complex chromosomal rearrangements in the study were the first report.

PATIENT CONCERNS

We present novel cryptic and complex chromosomal rearrangements [der (21) t (9; 21) (p13; p11.2)] in an infant patient with relapsed acute lymphoblastic leukemia (ALL).

DIAGNOSES

The diagnosis was based on morphologic, cytochemical, and immunophenotypic criteria proposed by the French-American-British Committee, and karyotype, fluorescence in situ hybridization, array comparative genomic hybridization.

INTERVENTIONS

The patient was given chemotherapy with standard protocol for ALL.

OUTCOMES

The patient had unfavorable prognostic outcome based on the cytogenetic and molecular cytogenetic markers. After short remission, the patient relapsed.

LESSONS

MLL-AFF1, resulting from t(4;11)(q21;q23), is regarded as the hallmark of infant t(4;11) pre-B/mixed B-ALL. It is associated with a dismal prognosis and the multiple-way translocation involving chromosomes 4, 11 and 11 may function as an enhancer.

摘要