Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Feb 6, 2021; 9(4): 854-863
Published online Feb 6, 2021. doi: 10.12998/wjcc.v9.i4.854
Long-term survival in a patient with Hutchinson-Gilford progeria syndrome and osteosarcoma: A case report
Katsuhiro Hayashi, Norio Yamamoto, Akihiko Takeuchi, Shinji Miwa, Kentaro Igarashi, Yoshihiro Araki, Hirotaka Yonezawa, Sei Morinaga, Yohei Asano, Hiroyuki Tsuchiya
Katsuhiro Hayashi, Norio Yamamoto, Akihiko Takeuchi, Shinji Miwa, Kentaro Igarashi, Yoshihiro Araki, Hirotaka Yonezawa, Sei Morinaga, Yohei Asano, Hiroyuki Tsuchiya, Department of Orthopaedic Surgery, Kanazawa University, Kanazawa 9208641, Japan
Author contributions: Hayashi K, Yamamoto N and Tsuchiya H were the patient’s surgeons, reviewed the literature and contributed to manuscript drafting; Takeuchi A, Miwa S and Igarashi K reviewed the literature and contributed to manuscript drafting; Araki Y analyzed and interpreted the imaging findings; Yonezawa H, Morinaga S and Asano Y were responsible for the revision of the manuscript for important intellectual content; all authors issued final approval for the version to be submitted.
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: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Katsuhiro Hayashi, MD, PhD, Professor, Department of Orthopaedic Surgery, Kanazawa University, Takaramachi 13-1, Kanazawa 9208641, Japan. khayashi830@gmail.com
Received: August 4, 2020
Peer-review started: August 4, 2020
First decision: November 3, 2020
Revised: December 3, 2020
Accepted: December 23, 2020
Article in press: December 23, 2020
Published online: February 6, 2021
Abstract
BACKGROUND

Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare disease characterized by the rapid appearance of aging with an onset in childhood. Serious cardiovascular complications can be life-threatening events for affected patients and the cause of early death. Herein we report a HGPS patient with osteosarcoma hat was successfully managed and is alive 13 years after the diagnosis. This is the first report describing the detailed surgical procedure and long-term follow-up of osteosarcoma in a patient with HGPS.

CASE SUMMARY

The patient was diagnosed with HGPS at 5 years of age with typical features and was referred to our department with a suspected bone tumor of the left proximal tibia at the age of 18. Open biopsy of the tibial bone tumor revealed a conventional fibroblastic osteosarcoma. We have developed and performed a freezing technique using liquid nitrogen for tumor reconstruction. This technique overcame the small size of the tibia for megaprosthesis and avoided amputation and limb salvage was achieved 13 years post-operatively. Although the patient had a number of surgical site complications, such as wound dehiscence, and superficial and deep infections due to vulnerable skin in HGPS, no recurrence or metastases were detected for 13 years, and she walks assisted by crutches. Her general health was good at the latest follow-up at 31 years of age.

CONCLUSION

A HGPS patient with osteosarcoma was successfully managed and she was alive 13 years after the diagnosis.

Keywords: Hutchinson-Gilford progeria syndrome, Osteosarcoma, Frozen autograft, Biological reconstruction, Case report, Thyroid cancer

Core Tip: We report the first case describing the detailed surgical procedure and long-term follow-up of osteosarcoma in a patient with Hutchinson-Gilford progeria syndrome (HGPS). This patient had symptoms of HGPS at birth and was diagnosed at 5 years of age. After the diagnosis of osteosarcoma in proximal tibia, a pedicle frozen autograft using liquid nitrogen was performed to cure her osteosarcoma, and limb salvage was achieved 13 years post-operatively. The patient had a number of surgical site complications, such as wound dehiscence, and superficial and deep infections due to vulnerable skin in HGPS. If the megaprosthesis was chosen, infection could not be subsided and an amputation would eventually be done. Even though amputation was selected, a prosthetic leg would not be applicable because of the poor condition of the skin. Cardiovascular disorders did not develop until 24 years of age and thyroid cancer has been successfully managed by surgery and levothyroxine for 13 years. Due to the morphologic characteristics of bone, vulnerable skin condition, and decreased subcutaneous tissue, the treatment strategy for osteosarcoma in HGPS is complicated. A biological reconstruction method is recommended to manage post-operative complications.