A primary splenic angiosarcoma hepatic metastasis after splenectomy and its genomic alteration profile

Abstract

Rationale: Primary splenic angiosarcoma (PSA) is a rare mesenchymal malignancy of the splenic vascular origin often with a dismal prognosis. Genomic profile may provide evidence for the solution of therapy. Patient concerns: We reported a case of a 51-year-old woman with splenectomy 4 years ago and the postoperative histopathology diagnosis revealed “splenic hemangioma” with spontaneous rupture. Two years after the operation, the patient's rechecked abdominal computed tomography (CT) showed multiple hepatic occupations. Diagnoses: Pathological test suggested PSA hepatic metastasis. Interventions: The patient was treated with trans-catheter arterial chemoembolization (TACE) and a pathological diagnosis of PSA was highly suspected in the hepatic biopsy. Four somatic alterations, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA), Fos proto-oncogene, AP-1 transcription factor subunit (FOS), MCL1 apoptosis regulator (MCL1), and phosphoinositide-3-kinase regulatory subunit 1 (PIK3R1) were detected in the tumor tissue using a Next generation sequencing (NGS) technology. The results prompted that the patient may get clinical benefit from using some agents for targeted therapy, Everolimus, Temsirolimus, or Copanlisib. Outcomes: The patient refused targeted therapy. As a result, the patient passed away within 51 months after splenectomy. Lessons: PSA is an aggressive disease that often presented with a high propensity for metastasis and rupture hemorrhage. Some of these mutations were first discovered in PSA and these findings added new contents to the genomic mutation profile of PSA.

Primary Splenic Melanoma Associated with Small Intestinal Serosal Implants Causing Intussusception - A Case Report

“…Manifestations of systemic involvement such as fatigue, weight loss, anemia, thrombocytopenia, and fever may be present. Splenic rupture is rarely reported to be the initial presentation (5,6,8,14). As for our patient, he was presented with left upper quadrant pain, mild splenomegaly and the splenic mass was his firstly discovered significant finding.…”

Images in Immunotherapy and Precision Oncology: Angiosarcoma of the Spleen and Liver

“…[ 15 ] Next-generation sequencing has also revealed FOS-, MCL1- , and PIK3CA -activating mutations in primary splenic angiosarcomas, suggesting a rationale for using PI3K inhibitors as well as mammalian target of rapamycin (mTOR) inhibitors for therapeutic benefit. [ 16 ] In primary hepatic angiosarcomas, next-generation sequencing has shown high-level amplification of the 4q11-q13.1 region, which contains the KIT , PDGFRA , and VEGFR2 genes. [ 17 ] Of note, whole-exome sequencing showed PLCG1 mutations that allowed for VEGF-R independent signaling, providing a plausible mechanism of resistance to VEGFR-directed therapies.…”

Genomic, Epigenomic and Proteomic Landscaping of Hepatocellular Carcinoma

“…The severity of cirrhosis hampers effective treatment for HCC despite recent progress in the efficacy of anticancer drugs for advanced stages of HCC. Studies reveal that ~70% of patients with HCC have hepatitis B virus (HBV) and/or hepatitis C virus (HCV) infection [4,5]. The literature suggests that genetic and epigenetic factors, such as microRNAs, play a role in liver cirrhosis and its progression to HCC, and that HBV-and HCV-encoded proteins appear to be involved in hepato-carcinogenesis.…”

“…Due to lethality of HCC the long-term survival rate of HCC patients remains low worldwide. The mean survival time of HCC patient is estimated approximately 6 -20 months [2][3][4]. Although remarkable improvements are achieved in the treatment of HCC such as liver transplantation, radical surgical resection, and interventional therapy, but treatment outcomes still remain unsatisfactory due to post-surgical recurrence and drug resistance [4,5].…”

“…The mean survival time of HCC patient is estimated approximately 6 -20 months [2][3][4]. Although remarkable improvements are achieved in the treatment of HCC such as liver transplantation, radical surgical resection, and interventional therapy, but treatment outcomes still remain unsatisfactory due to post-surgical recurrence and drug resistance [4,5]. At present, surgical resection is first-line treatment for HCC, even then, some of these patients experience recurrence.…”