Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Apr 16, 2022; 10(11): 3601-3608
Published online Apr 16, 2022. doi: 10.12998/wjcc.v10.i11.3601
Del(5q) and inv(3) in myelodysplastic syndrome: A rare case report
Hai-Ping Liang, Xing-Chun Luo, Ya-Li Zhang, Bei Liu
Hai-Ping Liang, Xing-Chun Luo, Ya-Li Zhang, The First Clinical Medical College, Lanzhou University, Lanzhou 730000, Gansu Province, China
Bei Liu, Department of Hematology, The First Affiliated Hospital, Lanzhou University, Lanzhou 730000, Gansu Province, China
Author contributions: Liang HP designed the study and wrote the manuscript; Luo XC collected and analyzed the data; Zhang YL prepared figures; Liu B was in charge of patient treatment and designed the paper; all authors read and approved the final manuscript.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
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: Bei Liu, MD, PhD, Professor, Department of Hematology, The First Affiliated Hospital, Lanzhou University, No. 1 Donggangxi Road, Chengguan District, Lanzhou 730000, Gansu Province, China. liubeiff@163.com
Received: December 6, 2021
Peer-review started: December 6, 2021
First decision: January 25, 2022
Revised: February 3, 2022
Accepted: February 27, 2022
Article in press: February 27, 2022
Published online: April 16, 2022
Processing time: 123 Days and 8.5 Hours
Abstract
BACKGROUND

Del(5q) is the most common molecular event in myelodysplastic syndrome (MDS), accounting for 10%-15% of cases. Inv(3) is an adverse cytogenetic abnormality observed in less than 1% of MDS patients. Few studies have reported the coexistence of del(5q) and inv(3) in MDS. Therefore, the pathological mechanism, treatment strategy and prognosis of this subtype need to be elucidated.

CASE SUMMARY

A 66-year-old woman was admitted to the hospital due to chest tightness and shortness of breath. Combining clinical assessments with laboratory examinations, the patient was diagnosed with MDS containing both del(5q) and inv(3). Considering the deletion of chromosome 5q, we first treated the patient with lenalidomide. When drug resistance arose, we tried azacitidine, and the patient had a short remission. Finally, the patient refused treatment with haematopoietic stem cell transplantation and died of severe infection four months later.

CONCLUSION

MDS patients with del(5) and inv(3) have a poor prognosis. Azacitidine may achieve short-term remission for such patients.

Keywords: Myelodysplastic syndrome; Del(5q); Inv(3); Lenalidomide; Azacitidine; Case report

Core Tip: We report a rare case of myelodysplastic syndrome (MDS) with two chromosomal structural abnormalities, del(5q) and inv(3). The patient evolved from the initial del(5q) to inv(3) combined with del(5q). Considering the deletion of chromosome 5q, we first treated the patient with lenalidomide. When drug resistance arose, we tried azacitidine, and the patient had a short remission. Finally, the patient refused treatment with haematopoietic stem cell transplantation (HSCT), and her condition gradually deteriorated until she was discharged from the hospital. In this rare and contradictory situation, we found that MDS patients with coexisting del(5q) and inv(3) may have a poor prognosis. However, azacitidine may play a role to some extent in MDS with del(5q) and inv(3), and HSCT may be the only way to cure the disease.