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原发性颅内肉瘤，DICER-1突变型，伴出血表现：一例报告。

Primary intracranial sarcoma, DICER-1 mutant, with hemorrhagic presentation: A case report.

作者信息

Edelbach Brandon Michael, Gospodarev Vadim, Raghavan Ravi, Dye Justin

机构信息

Department of Neurosurgery, Loma Linda University Medical School, Loma Linda, California, United States.

Department of Neurosurgery, Loma Linda University Medical Center, Loma Linda, California, United States.

出版信息

Surg Neurol Int. 2024 Jul 26;15:253. doi: 10.25259/SNI_259_2024. eCollection 2024.

DOI:10.25259/SNI_259_2024
PMID:39108364
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11302587/
Abstract

BACKGROUND

Primary intracranial sarcomas (PIS) are rare tumors with mesenchymal origins. These tumors have a heterogeneous clinical presentation and are associated with a poor prognosis.

CASE DESCRIPTION

This report highlights the complexities associated with PIS by focusing on a 26-year-old male with recurrent tumor growth facing unique challenges regarding diagnosis and treatment options . A high-grade spindle-celled neoplasm with sarcomatous features characterized the patient's tumor. There were additional morphologic changes, including multinucleated giant cells and rare foci with eosinophilic spheroids. Genomic analysis revealed a -associated PIS. Treatment involved endovascular embolization, multiple surgical interventions, intrathecal etoposide injections, and oral pazopanib with adjuvant radiation therapy.

CONCLUSION

This case additionally highlights an unusual association between PIS and anomalous hypervascularity, refractory hemorrhage, and subdural effusions, a presentation that is increasingly being reported in this type of tumor.

摘要

背景

原发性颅内肉瘤（PIS）是起源于间充质的罕见肿瘤。这些肿瘤临床表现多样，预后较差。

病例描述

本报告聚焦于一名26岁复发性肿瘤生长的男性患者，强调了PIS相关的复杂性，该患者在诊断和治疗选择上面临独特挑战。患者的肿瘤为具有肉瘤特征的高级别梭形细胞肿瘤。还有其他形态学改变，包括多核巨细胞和罕见的嗜酸性球状体灶。基因组分析显示为一种相关的PIS。治疗包括血管内栓塞、多次手术干预、鞘内注射依托泊苷以及口服帕唑帕尼并辅以放射治疗。

结论

该病例还突出了PIS与异常血管增生、难治性出血和硬膜下积液之间的不寻常关联，这种表现越来越多地在这类肿瘤中被报道。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb5c/11302587/142e271d9a42/SNI-15-253-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb5c/11302587/e41c52205293/SNI-15-253-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb5c/11302587/532746f8c81c/SNI-15-253-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb5c/11302587/9aab5dbafba9/SNI-15-253-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb5c/11302587/e30792e15dd8/SNI-15-253-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb5c/11302587/3cfbf7b4c4ec/SNI-15-253-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb5c/11302587/142e271d9a42/SNI-15-253-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb5c/11302587/e41c52205293/SNI-15-253-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb5c/11302587/532746f8c81c/SNI-15-253-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb5c/11302587/9aab5dbafba9/SNI-15-253-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb5c/11302587/e30792e15dd8/SNI-15-253-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb5c/11302587/3cfbf7b4c4ec/SNI-15-253-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb5c/11302587/142e271d9a42/SNI-15-253-g006.jpg

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