Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jun 6, 2022; 10(16): 5380-5386
Published online Jun 6, 2022. doi: 10.12998/wjcc.v10.i16.5380
Pulmonary lymphomatoid granulomatosis in a 4-year-old girl: A case report
Jia-Wei Yao, Li Qiu, Ping Liang, Han-Min Liu, Li-Na Chen
Jia-Wei Yao, Division of Pediatric Pulmonology, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 610091, Sichuan Province, China
Li Qiu, Ping Liang, Han-Min Liu, Li-Na Chen, Division of Pediatric Pulmonology and Immunology, Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital of Sichuan University, NHC Key Laboratory of Chronobiology, Chengdu 610041, Sichuan Province, China
Author contributions: Chen LN and Liu HM concepted the study; Chen LN, Qiu L, Liang P, and Yao JW did the investigation; Yao JW and Liang P did the writing and original draft; Chen LN writing the review and editing.
Supported by Science and Technology department of Sichuan Province, No. 2020YFS0105; and West China Second University Hospital of Sichuan University, No. KL036.
Informed consent statement: Informed written consent was obtained from the patient’s guardians 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: Li-Na Chen, MD, Chief Doctor, Division of Pediatric Pulmonology and Immunology, Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital of Sichuan University, NHC Key Laboratory of Chronobiology, No. 20 Section 3 South Renmin Road, Chengdu 610041, Sichuan Province, China. chenlina_78@163.com
Received: September 6, 2021
Peer-review started: September 6, 2021
First decision: December 9, 2021
Revised: December 23, 2021
Accepted: April 2, 2022
Article in press: April 2, 2022
Published online: June 6, 2022
Processing time: 269 Days and 0.1 Hours
Abstract
BACKGROUND

Pulmonary lymphomatoid granulomatosis (PLG) is a lymphoproliferative disease associated with Epstein-Barr viral infection occurring mainly in adults and rarely in children. It is characterized by multiple pulmonary nodules. Its diagnosis depends on lung biopsy findings. Most patients are immunodeficient, and it commonly presents in children undergoing chemotherapy for leukemia. We report the case of a child with PLG caused by a mutation in the macrophage-expressed gene 1 (MPEG1), suggesting possible PLG occurrence in children undergoing treatment for pulmonary nodular lesions.

CASE SUMMARY

This study reports a case of PLG without apparent immunodeficiency, suggesting the possibility of this disease occurrence during the treatment of pulmonary nodular lesions in children. Initially, the cause was assumed to be an atypical pathogen. Following conventional anti-infective treatment, chest computed tomography findings revealed that there were still multiple nodules in the lungs. Additionally, the patient was found to be infected with the Epstein-Barr virus. Histopathological examination of the resected lung revealed lymphoproliferative lesions with necrosis. Small lymphocytes, plasma cells, and histiocytes were observed in the background, although Reed-Sternberg cells were absent. Immunohistochemical staining [CD20(+), CD30(+), and CD3(+)] and EBV-encoded small RNA1/2 in situ hybridization of small lymphocytes revealed approximately 200 cells/high-power field. Whole exon sequencing of the patient revealed a mutation in the MPEG1. The patient was eventually diagnosed with PLG and transferred to the Department of Pediatric Oncology for bone marrow transplantation.

CONCLUSION

As PLG is rare and fatal, it should be suspected in clinical settings when treatment of initial diagnosis is ineffective.

Keywords: Pulmonary lymphomatoid granulomatosis, Child, Epstein-Barr virus, Lymphoproliferative disease, Leukemia, Case report

Core Tip: Pulmonary lymphomatoid granulomatosis is a rare but potentially fatal disease, especially in children. Based on the difficulty of diagnosis, the pulmonologist must have a high index of suspicion. Attention must be paid to histopathology and chest imaging findings. Furthermore, in our case, we found exome sequencing to reveal a pathogenic, pure heterozygous variant of macrophage-expressed gene 1 (NM_001039396: c.946C>T; p.P316S). No similar mutations have been reported in patients with PLG. Electronic bronchoscopy revealed many white nodules on the mucosa of the left and right main bronchi. It is necessary to consider genetic screening and the clinical application of electronic bronchoscopy.