Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Oct 16, 2022; 10(29): 10655-10662
Published online Oct 16, 2022. doi: 10.12998/wjcc.v10.i29.10655
Myeloproliferative neoplasms complicated with β-thalassemia: Two case report
Neng-Wen Xu, Lin-Jie Li
Neng-Wen Xu, Lin-Jie Li, Department of Hematology, College of Medicine, Lishui Hospital, Zhejiang University, Lishui 323000, Zhejiang Province, China
Author contributions: Li LJ performed the postoperative evaluation and diagnosis; Xu NW reviewed the literature and contributed to manuscript drafting; Xu NW collected the medical data; all authors issued final approval for the submitted version.
Informed consent statement: Informed written consent was obtained from the patients for publication of this report and any accompanying images.
Conflict-of-interest statement: All authors declare that they have no conflicts 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: Lin-Jie Li, BMed, Chief Physician, Department of Hematology, College of Medicine, Lishui Hospital, Zhejiang University, No. 289 Kuocang Road, Liandu District, Lishui 323000, Zhejiang Province, China. lilinjie0394@zju.edu.cn
Received: April 28, 2022
Peer-review started: April 28, 2022
First decision: July 11, 2022
Revised: July 20, 2022
Accepted: September 7, 2022
Article in press: September 7, 2022
Published online: October 16, 2022
Processing time: 154 Days and 1.8 Hours
Abstract
BACKGROUND

BCR-ABL-negative myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell disorders characterized by the proliferation of one or more myeloid lineages and by mutually exclusive JAK2 V617F, CALR, and MPL[A1] mutations. The combination of MPN and thalassemia is extremely unusual. Several cases with myeloproliferative neoplasms and β-thalassemia have been reported. However, these have not been extensively reviewed. The present report describes two cases of myeloproliferative neoplasms complicated with β-thalassemia and reviews all similar cases reported in the literature.

CASE SUMMARY

We report two patients who were diagnosed with myeloproliferative neoplasms complicated with β-thalassemia. Both patients had abnormal increases in platelet counts. Based on bone marrow pathology and molecular biology assessment, we made the diagnosis of myeloproliferative neoplasms complicated with β-thalassemia. The female patient was given hydroxyurea and interferon, which enabled good control of her blood counts; the male patient was given ruxolitinib tablets, thalidomide tablets, and interferon to control the condition, but the patient poorly responded to drug treatment and died of gastrointestinal bleeding six months later.

CONCLUSION

Given the findings of our cases and the literature review, we hypothesize that myeloproliferative neoplasms complicated with β-thalassemia can lead to rapid disease progression and a poor prognosis.

Keywords: Myeloproliferative Neoplasms, β-thalassemia, Somatic gene mutation, Germline gene mutation, Case report

Core Tip: The present report describes two cases of Myeloproliferative Neoplasms complicated with β-thalassemia and reviews all similar cases reported in the literature, in terms of indications, diagnosis and treatment. The present two cases highlight the importance of accurate diagnosis of myeloproliferative neoplasms complicated with β-thalassemia. It also could increase awareness among hematologists about the two rare cases. Early identification and appropriate identification of the diagnosis are crucial to start appropriate therapy to improve patient survival.