Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Mar 26, 2022; 10(9): 2931-2937
Published online Mar 26, 2022. doi: 10.12998/wjcc.v10.i9.2931
Turner syndrome with primary myelofibrosis, cirrhosis and ovarian cystic mass: A case report
Lin-Wei Xu, Yong-Zhong Su, Hong-Fang Tao
Lin-Wei Xu, Yong-Zhong Su, Hong-Fang Tao, Department of Hematology, The First Affiliated Hospital of Shantou University Medical College, Shantou 515041, Guangdong Province, China
Author contributions: Xu LW was responsible for the clinical management of the patient and writing the paper; Tao HF treated the patient and revised the manuscript; Su YZ contributed to the follow-up of the patient; all authors contributed to the article and approved the submitted version.
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: Hong-Fang Tao, PhD, Associate Chief Physician, Department of Hematology, The First Affiliated Hospital of Shantou University Medical College, No. 51 Changping Street, Shantou 515041, Guangdong Province, China. taohongfangchn@163.com
Received: October 8, 2021
Peer-review started: October 8, 2021
First decision: December 17, 2021
Revised: January 4, 2022
Accepted: February 12, 2022
Article in press: February 12, 2022
Published online: March 26, 2022
Processing time: 164 Days and 23.8 Hours
Abstract
BACKGROUND

Turner syndrome (TS) with leukemia is a complicated clinical condition. The clinical course and outcome of these patients are poor, so the treatment and prognosis of TS with hematological malignancies deserve our attention.

CASE SUMMARY

Here, we report a case of a 20-year-old woman diagnosed with TS, primary myelofibrosis (PMF), cirrhosis, and an ovarian cystic mass. This is the first report on the coexistence of TS and PMF with the MPL and SH2B3 mutations. The patient was diagnosed with cirrhosis of unknown cause, splenomegaly and severe gastroesophageal varices. Additionally, an ovarian cystic mass caused the patient to appear pregnant. The patient was treated with the JAK2 inhibitor-ruxolitinib according to peripheral blood cells, although myelofibrosis was improved, the splenomegaly did not reduce. Moreover, hematemesis and melena occasionally occurred.

CONCLUSION

Ruxolitinib may clearly reduce splenomegaly. Though myelofibrosis was improved, cirrhosis and splenomegaly in this case continued to worsen. Effective treatment should be discussed.

Keywords: Turner syndrome; Primary myelofibrosis; Cirrhosis; Ovarian cystic mass; Ruxolitinib; Case report

Core Tip: A case of Turner syndrome (TS) with chronic myeloid proliferative neoplasm is very rare. Here we report a 20-year-old woman diagnosed with TS, primary myelofibrosis, cirrhosis, and an ovarian cystic mass. The level of myelofibrosis was reduced after ruxolitinib treatment, however, anemia, thrombocytopenia, cirrhosis and splenomegaly continued to worsen. This indicates that the deterioration of splenomegaly may be caused by portal hypertension. Other treatment options and special care for patients such as the one in this case should be discussed.