Wang SL. Genetic changes in refractory relapsed acute myeloid leukemia with NPM1 mutation: A case report. World J Clin Cases 2022; 10(35): 13058-13063 [PMID: 36569004 DOI: 10.12998/wjcc.v10.i35.13058]
Corresponding Author of This Article
Shuang-Ling Wang, MMed, Deputy Chief Physician, Department of Hematology and Oncology, The Second Affiliated Hospital of Medical College of Shantou University, No. 69 Dongxia North Road, Shantou 515041, Guangdong Province, China. slwang_2006@126.com
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. Dec 16, 2022; 10(35): 13058-13063 Published online Dec 16, 2022. doi: 10.12998/wjcc.v10.i35.13058
Genetic changes in refractory relapsed acute myeloid leukemia with NPM1 mutation: A case report
Shuang-Ling Wang
Shuang-Ling Wang, Department of Hematology and Oncology, The Second Affiliated Hospital of Medical College of Shantou University, Shantou 515041, Guangdong Province, China
Author contributions: Wang SL reviewed the literature and contributed to manuscript drafting.
Supported bythe Shantou Science and Technology Planning Project of Guangdong Province, No. SFK [2019] 79.
Informed consent statement: Before treatment, patients and their families have signed informed consent for treatment.
Conflict-of-interest statement: There is no conflict of interest.
CARE Checklist (2016) statement: This manuscript was checked according to the checklist (2016) state.
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: Shuang-Ling Wang, MMed, Deputy Chief Physician, Department of Hematology and Oncology, The Second Affiliated Hospital of Medical College of Shantou University, No. 69 Dongxia North Road, Shantou 515041, Guangdong Province, China. slwang_2006@126.com
Received: September 5, 2022 Peer-review started: September 5, 2022 First decision: October 27, 2022 Revised: November 4, 2022 Accepted: November 18, 2022 Article in press: November 18, 2022 Published online: December 16, 2022
Abstract
BACKGROUND
Acute myeloid leukemia is often associated with gene mutation or chromosome abnormality, which is an important factor affecting prognosis. The 5-year survival rate of patients with acute myeloid leukemia without hematopoietic stem cell transplantation is low. For patients who only received chemotherapy and whose first remission lasted > 5 years, there are few reports of gene spectrum changes between relapse and initial diagnosis.
CASE SUMMARY
We report a 41-year-old woman who presented to our hospital with complaints of dizziness, poor appetite and wasting. She was diagnosed with acute myelomonocytic leukemia (M4b) with NPM1 mutation and only received chemotherapy. Her first remission lasted > 5 years. New genetic variants were detected upon relapse that may have been related to relapse and chemotherapy resistance.
CONCLUSION
Mutations in WT1 (R394fs/A387fs)/PTPN11 T73I/ETV6 S350P and JAK2 W659R may be related to relapse and chemotherapy resistance in acute myeloid leukemia.
Core Tip: We report a patient with relapsed refractory acute myelomonocytic leukemia. Compared with the gene spectrum at initial diagnosis, new genetic variants were detected. We speculate that mutations in WT1 (R394fs/A387fs)/PTPN11 T73I/ETV6 S350P and JAK2 W659R may be related to relapse and chemotherapy resistance.
