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Enrichment of Immune-Related Genes in Aggressive Primary Breast Angiosarcoma: A Case Report.

ABSTRACT: Primary breast angiosarcoma is an extremely rare disease with a poor prognosis. Primary angiosarcoma is distinct from secondary angiosarcoma, which usually occurs in patients who have been previously treated for breast cancer. The low incidence of primary breast angiosarcoma has hindered the elucidation of its etiology and potential therapies. Here, we report a case of a patient with primary breast angiosarcoma who experienced recurrence after surgery. The tumor was refractory to systemic treatments, and the patient died 18 months after the surgery. We used RNA sequencing for gene expression profiling of the tumor. A high tumor inflammation signature score indicated enrichment in immune-related signaling. CIBERSORTx, a tool used to characterize the cellular composition of complex tissues based on gene expression, indicated that the immune cells in the tumor were predominantly macrophages, and this was confirmed using immunohistochemical analysis. These findings indicate the possible use of checkpoint immunotherapy for the treatment of primary breast angiosarcoma.

SUBMITTER: Matsunuma R

PROVIDER: S-EPMC10368090 | biostudies-literature | 2023 Jan-Dec

REPOSITORIES: biostudies-literature

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Enrichment of Immune-Related Genes in Aggressive Primary Breast Angiosarcoma: A Case Report.

Matsunuma Ryoichi R Sato Shoko S Chan Jason Yongsheng JY Kinoshita Kazuo K Taku Keisei K Yamaguchi Kei K Hayami Ryosuke R Arai Kazumori K Suzuki Makoto M Tsuneizumi Michiko M

Case reports in oncology 20230101 1

Primary breast angiosarcoma is an extremely rare disease with a poor prognosis. Primary angiosarcoma is distinct from secondary angiosarcoma, which usually occurs in patients who have been previously treated for breast cancer. The low incidence of primary breast angiosarcoma has hindered the elucidation of its etiology and potential therapies. Here, we report a case of a patient with primary breast angiosarcoma who experienced recurrence after surgery. The tumor was refractory to systemic treatm ...[more]

PMID: 37497424

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Project description:RationaleAngiosarcoma is a rare malignant tumors. The objective of this study is to report a patient who suffered from a progressive low back pain and left lower extremities radiation pain for about 8 months, After diagnoses, this was identified as an extremely rare case of primary multiple angiosarcoma of vertebra.Patient concernsA 54-year-old man with a history of 2-year hypertension and 8-year diabetes, both of which were well controlled by drug management. Lately, he suffered from a progressive low back pain and left lower extremities radiation pain for about 8 months.DiagnosesMagnetic resonance imaging of lumbar showed a clear pathological fracture and primary multiple angiosarcoma of all vertebra. Postoperative pathology and High-throughput sequencing confirmed the diagnosis of primary multiple angiosarcoma of vertebra.InterventionsThe patient underwent minimally invasive pedicle screw fixation combined with bone cement augmentation for the purpose of stabilizing the damaged vertebrae. Following operation, he received both radiotherapy and chemotherapy for a period of time.OutcomesThe operation has achieved positive results in relieving pain and stabilizing the spine. No wound problem or operative complications occurred after operation. The patient reported an obvious remission of low back pain and was only capable to perform restricted physiological activities. A long-term palliative radiotherapy and chemotherapy were performed after operation. Unfortunately, the patient died 18 months later.ConclusionThis article emphasizes primary multiple angiosarcoma of vertebra. Despite being rare, it should be part of the differential when the patient manifested back pain and radiculopathy. We recommended the minimally invasive pedicle screw fixation for angiosarcoma of vertebra. Osteoplasty by bone cement augmentation was also an ideal choice for surgical treatment. It also advocates the use of specific targeted radiotherapy drugs based on gene analysis of tumors.

Dataset Information

Enrichment of Immune-Related Genes in Aggressive Primary Breast Angiosarcoma: A Case Report.

Publications

Enrichment of Immune-Related Genes in Aggressive Primary Breast Angiosarcoma: A Case Report.

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