A large retroperitoneal lipoblastoma as an incidental finding: a case report

BMC Pediatrics

Karen Ernestus¹  Elena Gerhard-Hartmann¹  Katja Maurus¹  Andreas Rosenwald¹  Clemens Benoit²  Thomas Meyer³  Verena Wiegering⁴ 

[1] Department of Pathology, University of Würzburg, Josef-Schneider-Str. 2, 97080, Würzburg, Germany;Comprehensive Cancer Center Mainfranken, Würzburg, Germany;Division of Pediatric Radiology, University Department of Radiology, Würzburg, Germany;Division of Pediatric Surgery, University Medical Center ZOM, Würzburg, Germany;University Children’s Hospital Würzburg, Würzburg, Germany;

关键词: Retroperitoneal tumor;    Pediatric;    Lipoblastoma;    PLAG1;    Case report;   

DOI  :  10.1186/s12887-021-02628-w

来源: Springer

【 摘 要 】

BackgroundLipoblastoma is a rare benign mesenchymal neoplasm of infancy that most commonly occurs on the extremities and trunk but can arise at variable sites of the body. Retroperitoneal lipoblastomas are particularly rare but can grow to enormous size, and preoperative diagnosis is difficult with diverse, mostly malignant differential diagnoses that would lead to aggressive therapy. Since lipoblastoma is a benign tumor that has an excellent prognosis after resection, correct diagnosis is crucial.Case presentationA case of a large retroperitoneal tumor of a 24-month old infant that was clinically suspicious of a malignant tumor is presented. Due to proximity to the right kidney, clinically most probably a nephroblastoma or clear cell sarcoma of the kidney was suspected. Radiological findings were ambiguous. Therefore, the mass was biopsied, and histology revealed an adipocytic lesion. Although mostly composed of mature adipocytes, in view of the age of the patient, the differential diagnosis of a (maturing) lipoblastoma was raised, which was supported by molecular analysis demonstrating a HAS2-PLAG1 fusion. The tumor was completely resected, and further histopathological workup led to the final diagnosis of a 13 cm large retroperitoneal maturing lipoblastoma. The child recovered promptly from surgery and showed no evidence of recurrence so far.ConclusionAlthough rare, lipoblastoma should be included in the differential diagnoses of retroperitoneal tumors in infants and children, and molecular diagnostic approaches could be a helpful diagnostic adjunct in challenging cases.

【 授权许可】

CC BY