Chen Y, Lu QY, Lu JY, Hong XL. Primary isolated central nervous system acute lymphoblastic leukemia with BCR-ABL1 rearrangement: A case report. World J Clin Cases 2022; 10(13): 4242-4248 [PMID: 35665131 DOI: 10.12998/wjcc.v10.i13.4242]
Corresponding Author of This Article
Quan-Yi Lu, MD, Chief Doctor, Department of Hematology, Zhongshan Hospital of Xiamen University, No. 209 Hubin South Road, Xiamen 361000, Fujian Province, China. luquanyi@xmu.edu.cn
Research Domain of This Article
Hematology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. May 6, 2022; 10(13): 4242-4248 Published online May 6, 2022. doi: 10.12998/wjcc.v10.i13.4242
Primary isolated central nervous system acute lymphoblastic leukemia with BCR-ABL1 rearrangement: A case report
Yan Chen, Quan-Yi Lu, Jing-Yuan Lu, Xiu-Li Hong
Yan Chen, Quan-Yi Lu, Jing-Yuan Lu, Xiu-Li Hong, Department of Hematology, Zhongshan Hospital of Xiamen University, Xiamen 361000, Fujian Province, China
Author contributions: Lu QY designed the research; Lu JY and Hong XL performed the research; Chen Y analyzed the data and wrote the manuscript; all authors have read and approve the final manuscript.
Supported bythe Science and Technology Plan Guide Project of Fujian Province, No. 2019D009.
Informed consent statement: Written informed consent was obtained from the patient for publication of this case report.
Conflict-of-interest statement: The authors declared that they have no conflicts of interest regarding this work.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Quan-Yi Lu, MD, Chief Doctor, Department of Hematology, Zhongshan Hospital of Xiamen University, No. 209 Hubin South Road, Xiamen 361000, Fujian Province, China. luquanyi@xmu.edu.cn
Received: October 21, 2021 Peer-review started: October 21, 2021 First decision: December 17, 2021 Revised: January 4, 2022 Accepted: March 15, 2022 Article in press: March 15, 2022 Published online: May 6, 2022 Processing time: 190 Days and 15.2 Hours
Abstract
BACKGROUND
BCR-ABL1 fusion gene is associated with a poor prognosis and a high incidence in central nervous system (CNS) leukemia. CNS invasion which detected at the initial diagnosis is commonly with bone marrow infiltration. It is uncommon for the leukemia cells to be located primarily in the CNS without bone marrow involvement.
CASE SUMMARY
We here report the rare initial presentation of CNS-restricted BCR-ABL-positive acute lymphoblastic leukemia in a 30-year-old female patient who clinically manifested with leukemic meningitis, with no involvement in peripheral blood or bone marrow. Identification of abnormal phenotypes of blast cells, and BCR-ABL1 rearrangement in the cerebrospinal fluid alone established the diagnosis of primary CNS-isolated acute lymphocytic leukemia. The patient received a combination of intrathecal therapy and high-dose chemotherapy. But the benefits of the treatments were short-lived and she experienced recurrence.
CONCLUSION
Flow cytometry in combination with molecular genetic analysis improved diagnostic accuracy. New approaches that may enhance the efficacy of the existing therapies and cure CNS leukemia are required.
Core Tip: We report a rare newly diagnosed case in a female patient with BCR-ABL-positive leukemia cells primarily located in the arachnoid surface and the subarachnoid space, clinically manifesting as leukemic meningitis, without blood and bone marrow involvement. Given the rarity of this specific presentation of B cell-acute lymphocytic leukemia, the diagnosis and treatment approach are challenging.
