Molecular cytogenetic characterization of undifferentiated embryonal sarcoma of the liver: a case report and literature review

Hu, Xiaoxia; Chen, Haiying; Jin, Meishan; Wang, Xianfu; Lee, Jiyun; Xu, Weihong; Zhang, Rui; Li, Shibo; Niu, Junqi

doi:10.1186/1755-8166-5-26

Cited by 20 publications

(18 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…However, this was not noted in the studies by Sowery et al. and Hu et al 28,29 . Furthermore, UESL shares similar histological features and genetic profile with mesenchymal hamartoma of the liver 30 .…”

Section: Discussionmentioning

confidence: 85%

Undifferentiated sarcoma of the liver: Multicenter international experience of the Cooperative Soft‐Tissue Sarcoma Group and Polish Paediatric Solid Tumor Group

Murawski

Scheer

Leuschner

et al. 2020

Pediatric Blood & Cancer

View full text Add to dashboard Cite

Background: Undifferentiated embryonal sarcomas of the liver (UESL) are extremely rare and continue to pose a diagnostic and therapeutic challenge. The aim of the study was to present a multicenter experience of the German CWS and Polish PPSTG groups in the treatment of UESL in children. Procedure: Twenty-five patients were treated according to the CWS-96, CWS-2002, and CYVADIC protocols. Distant metastases were observed in four cases (16%). In four cases, an initial disease presentation mimicked other entities. A pure cystic appearance of liver mass led to misdiagnosis of hydatid cyst in three cases. In one case, laparotomy was performed due to the signs of appendicitis, and bleeding from ruptured liver tumor was found. All these patients were finally diagnosed as UESL. Results: Thirteen patients received preoperative chemotherapy. Partial response was observed in 10 cases. Tumor resection was performed in 20 patients (primary resections, 12; delayed resections-, 8). In five patients, the primary tumor never became operable. The macroscopically complete resection rate was 95% (19/20). Postoperative chemotherapy was given to 20 children. Local radiotherapy was used in three children. After a median follow-up time of 136 months, 17 patients (68%) were alive with no evidence of disease. All children with unresectable tumor and three out of four patients with distant metastases died. The five-year overall survival (OS) rate was 72%. Conclusions: In summary, a complete tumor excision plays the central role in the treatment of UESL. A cystic presentation of the liver lesion on imaging does not exclude the diagnosis of malignant tumor.

show abstract

Section: Discussionmentioning

confidence: 85%

Undifferentiated sarcoma of the liver: Multicenter international experience of the Cooperative Soft‐Tissue Sarcoma Group and Polish Paediatric Solid Tumor Group

Murawski

Scheer

Leuschner

et al. 2020

Pediatric Blood & Cancer

View full text Add to dashboard Cite

show abstract

“…Surfacing of ADAMTS16 in HCC samples could also infer the occurrence of a similar phenomenon by mutations or other mechanisms. Interestingly, while some in the ADAmTS family were implicated in diseases such as angio-inhibition (45) and Ehlers-Danlos syndrome (46), most remain relatively unknown and inconclusive (44,47,48). As such, risk alleles in ADAMTS16 as well as the observation that these metalloproteases were typically downregulated in cancer as a consequence of promoter hypermethylation (49), would suggest that polymorphisms in ADAMTS16 may potentially push the gene to displace and redistribute itself and other members in the family, possibly via extracellular matrix remodeling (50), and become oncogenic.…”

Section: Discussionmentioning

confidence: 99%

Characterizing key nucleotide polymorphisms of hepatitis C virus-disease associations via mass-spectrometric genotyping

et al. 2017

View full text Add to dashboard Cite

As more than 80% of hepatocellular carcinoma patients in Japan also suffer from hepatitis C virus infections some time in their medical history, identifying genetic aberrations associated to hepatitis C virulence in these individuals remains a high priority in the diagnosis and treatment of hepatocellular carcinoma. From the BioBank Japan Project, we acquired 480 subjects of hepatocellular carcinoma, chronic hepatitis and liver cirrhosis, and genotyped 131 clinically relevant host single nucleotide polymorphisms to survey the potential association between certain risk alleles and genes to a patient's predisposition to hepatitis C and liver cancer. Among those polymorphisms, we found 12 candidates with statistical significance to support association with hepatitis C virus susceptibility and genetic predisposition to hepatocellular carcinoma. SNPs in genes such as XPC, FANCA, KDR and BRCA2 also suggested likely connections between hepatitis C virus susceptibility and the contraction of liver diseases. Single nucleotide polymorphisms reported here provided suggestions for genes as biomarkers and elucidated insights briefing the linkage of hepatitis C virulence to the alteration of healthy liver genomic landscape as well as liver disease progression.

show abstract

“…While various (TP53,19q, 7q) cytogenetic abnormalities were shown, the etiology is still not clear. 2,3 UES can arise in the mesenchymal hamartoma of the liver. In both lesions cytogenetic abnormalities seen at chromosome 19 gross pathology, histology and immunohistochemical findings are similar.…”

Section: Discussionmentioning

confidence: 99%

Undifferentiated Embryonal Sarcoma of the Liver in an Adult: Case Report

Çoban¹,

Güçin²,

Karatepe³

et al. 2016

Turkiye Klinikleri J Case Rep

View full text Add to dashboard Cite

Molecular cytogenetic characterization of undifferentiated embryonal sarcoma of the liver: a case report and literature review

Cited by 20 publications

References 21 publications

Undifferentiated sarcoma of the liver: Multicenter international experience of the Cooperative Soft‐Tissue Sarcoma Group and Polish Paediatric Solid Tumor Group

Undifferentiated sarcoma of the liver: Multicenter international experience of the Cooperative Soft‐Tissue Sarcoma Group and Polish Paediatric Solid Tumor Group

Characterizing key nucleotide polymorphisms of hepatitis C virus-disease associations via mass-spectrometric genotyping

Undifferentiated Embryonal Sarcoma of the Liver in an Adult: Case Report

Contact Info

Product

Resources

About