Undifferentiated embryonal sarcoma of the liver occurring in an adolescent: a case report with genomic analysis

Tomonari Shimagaki; Keishi Sugimachi; Yohei Mano; Emi Onishi; Yuki Tanaka; Rie Sugimoto; Kenichi Taguchi; Masaru Morita; Yasushi Toh

doi:10.1186/s40792-022-01528-0

Undifferentiated embryonal sarcoma of the liver occurring in an adolescent: a case report with genomic analysis

Surg Case Rep. 2022 Sep 15;8(1):170. doi: 10.1186/s40792-022-01528-0.

Authors

Tomonari Shimagaki¹, Keishi Sugimachi², Yohei Mano², Emi Onishi², Yuki Tanaka³, Rie Sugimoto³, Kenichi Taguchi⁴, Masaru Morita⁵, Yasushi Toh⁵

Affiliations

¹ Department of Hepatobiliary and Pancreatic Surgery, National Hospital Organization Kyushu Cancer Center, 3-1-1 Notame, Minami-ku, Fukuoka, 811-1395, Japan. rgwsn6911@gmail.com.
² Department of Hepatobiliary and Pancreatic Surgery, National Hospital Organization Kyushu Cancer Center, 3-1-1 Notame, Minami-ku, Fukuoka, 811-1395, Japan.
³ Department of Hepato-Biliary-Pancreatology, National Hospital Organization Kyushu Cancer Center, Fukuoka, 811-1395, Japan.
⁴ Department of Pathology, National Hospital Organization Kyushu Cancer Center, Fukuoka, 811-1395, Japan.
⁵ National Hospital Organization Kyushu Cancer Center, Fukuoka, 811-1395, Japan.

Abstract

Background: Undifferentiated embryonal sarcoma of the liver (UESL) is a rare malignant mesenchymal tumor that usually occurs in children and is rarely diagnosed in adults.

Case presentation: The case was a female in her late 20s who presented with a huge liver mass found upon the examination of fever. Imaging analysis showed a well-defined mass measuring 9 cm in the largest dimension in the right posterior segment of the liver. The patient underwent right hemi-hepatectomy. Histopathological studies revealed that the circumscribed tumor was composed of a proliferation of atypical epithelioid to spindle-shaped cells with pleomorphic nuclei arranged in haphazard pattern. Histopathological features observed in immunohistochemical analyses confirmed a final diagnosis of UESL. Genome analysis using FoundationOne CDx revealed 11 somatic mutations including TP53 (R196*) and STK11 (F354L). Adjuvant chemotherapy with ifosfamide and etoposide was performed, and the case has been followed up without recurrence for 1 year after hepatectomy.

Conclusions: A UESL should be considered in the differential diagnosis of large and well-defined solid liver lesions. Although the prognosis of UESL is extremely unfavorable, aggressive surgical resection with adjuvant chemotherapy and genomic analysis may be helpful for ensuring long-term survival.

Keywords: Adjuvant chemotherapy; Cancer genomic medicine; Surgical resection; Undifferentiated embryonal sarcoma of the liver.