Yang CX, Yang Y, Zhang FL, Wang DH, Bian QH, Zhou M, Zhou MX, Yang XY. Congenital leukemia: A case report and review of literature. World J Clin Cases 2023; 11(29): 7227-7233 [PMID: 37946786 DOI: 10.12998/wjcc.v11.i29.7227]
Corresponding Author of This Article
Xiao-Yan Yang, PhD, Professor, Department of Pediatrics, Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang 550000, Guizhou Province, China. 469389553@qq.com
Research Domain of This Article
Pediatrics
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. Oct 16, 2023; 11(29): 7227-7233 Published online Oct 16, 2023. doi: 10.12998/wjcc.v11.i29.7227
Congenital leukemia: A case report and review of literature
Chun-Xia Yang, Ying Yang, Fen-Li Zhang, Ding-Huan Wang, Qiu-Han Bian, Man Zhou, Ming-Xiang Zhou, Xiao-Yan Yang
Chun-Xia Yang, Ying Yang, Fen-Li Zhang, Ding-Huan Wang, Qiu-Han Bian, Man Zhou, Ming-Xiang Zhou, Xiao-Yan Yang, Department of Pediatrics, Affiliated Hospital of Guizhou Medical University, Guiyang 550000, Guizhou Province, China
Chun-Xia Yang, Clinical Medicine, Guizhou Medical University, Guiyang 550000, Guizhou Province, China
Author contributions: Yang CX and Yang Y carried out the studies and drafted the manuscript; Yang XY revised the manuscript; Wang DH and Bian QH collected the clinical data; Zhang FL, Zhou M and Zhou MX were responsible for the literature search; Yang CX and Yang XY contributed conception and design of the study; All authors have read and approved the final manuscript.
Supported byProject of Regional Science Foundation of National Natural Science Foundation, No. 82060033; Project of Scientific and Technological Innovation Talent Team in Guizhou Province, No. CXTD[2021]002.
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: Xiao-Yan Yang, PhD, Professor, Department of Pediatrics, Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang 550000, Guizhou Province, China. 469389553@qq.com
Received: August 15, 2023 Peer-review started: August 15, 2023 First decision: August 30, 2023 Revised: September 11, 2023 Accepted: September 19, 2023 Article in press: September 19, 2023 Published online: October 16, 2023 Processing time: 54 Days and 3.2 Hours
Abstract
BACKGROUND
Acute leukemia in newborns is also known as neonatal or congenital leukemia (CL) and is a rare disease with an incidence rate of 1-5 per 1000000 live births. After birth, infants with CL exhibit infiltrative cutaneous nodules, hepatosplenomegaly, thrombocytopenia, and immature leukocytes in the peripheral blood. These symptoms are frequently accompanied by congenital abnormalities including trisomy 21, trisomy 9, trisomy 13, or Turner syndrome. Despite significant advances in disease management, the survival rate is approximately 25% at 2 years.
CASE SUMMARY
Here, we document a case of trisomy 21-related acute myeloid leukemia (AML) in a female neonate. The baby was sent to the neonatal intensive care unit because of anorexia, poor responsiveness, and respiratory distress. She was diagnosed with AML based on bone marrow aspiration and immunophenotyping. Genetic sequencing identified a mutation in the GATA1 gene. After receiving the diagnosis, the parents decided against medical care for their child, and the baby died at home on day 9 after birth.
CONCLUSIONS
The newborn infant was diagnosed with trisomy 21-related AML. Genetic sequencing identified a mutation in the GATA1 gene. The parents abandoned medical treatment for their infant after receiving the diagnosis, and the infant died at home on the 9th day after birth.
Core Tip: We documented a case of trisomy 21-related acute myeloid leukemia (AML) in a newborn baby. She was sent to the newborn critical care unit due to anorexia, poor responsiveness, and respiratory distress. She was diagnosed with AML based on bone marrow aspiration and immunophenotyping. Genetic sequencing identified a mutation in GATA1. Parents abandoned medical care for their child after receiving the diagnosis. The baby died at home.
