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小脑成血管细胞瘤与乳腺血管瘤病罕见并存且无潜在的错构瘤病

Rare Coexistence of a Cerebellar Hemangioblastoma and Angiomatosis of the Breast without Underlying Phakomatosis.

作者信息

Wegner Urszula, Balschat Sabine, Decker Thomas, Ryan Anthony G

机构信息

Department of Breast Imaging Unit, Norfolk and Norwich University Hospitals UK.

Department of Radiology and Neuroradiology, Dietrich Bonhoeffer Klinikum Neubrandenburg Germany.

出版信息

J Clin Imaging Sci. 2019 Mar 28;9:8. doi: 10.25259/JCIS-9-8. eCollection 2019.

Abstract

Angiomatosis of the breast is an unusual benign vascular process which may affect middle aged women and simulate carcinoma. We report a unique case of a female patient with cerebellar hemangioblastoma and coexisting breast angiomatosis. We discuss the neuroradiology and breast imaging, illustrating the diagnostic pearls and pitfalls in the setting of this extremely uncommon combination. A 50-year old patient with a history of right-sided cerebellar hemangioblastoma resection 10 years previously presented with a recurrent left sided palpable breast mass. She was referred for triple breast assessment and subsequent ultrasound-guided biopsy. On physical examination, the lesion was hypoechoic, ill-defined and located in the upper outer quadrant as are most breast malignancies. Ultrasound and mammography showed suspicious features. The ipsilateral axilla was normal. Histopathology revealed a diagnosis of breast angiomatosis with no evidence of associated malignancy. Vascular tumors of the breast are very rare, present diagnostic challenges and are prone to local recurrence. Complete excision with clear margins is recommended. Mastectomy is a consideration for diffuse disease that cannot be fully cleared with lumpectomy or Wide local excision. Cerebellar hemangioblastoma and breast angiomatosis is a very unique combination, particularly in the absence of an underlying phacomatosis. Radiological features of angiomatosis mimicking malignancy without pathognomonic imaging signs have been observed. Knowledge of these rare vascular breast tumors is key to making this unusual diagnosis and helps to reduce the number of radical surgical procedures.

摘要

乳腺血管瘤病是一种不常见的良性血管病变,可发生于中年女性,易被误诊为癌。我们报告了一例独特的女性患者,患有小脑成血管细胞瘤并伴有乳腺血管瘤病。我们讨论了神经放射学和乳腺影像学表现,阐述了在这种极为罕见的组合情况下的诊断要点和陷阱。一名50岁女性患者,10年前曾行右侧小脑成血管细胞瘤切除术,现因左侧乳腺可触及复发性肿块就诊。她被转诊进行乳腺三联评估及后续超声引导下活检。体格检查发现,该病变呈低回声,边界不清,位于乳腺外上象限,这也是大多数乳腺恶性肿瘤的好发部位。超声和乳腺X线摄影显示出可疑特征。同侧腋窝正常。组织病理学检查确诊为乳腺血管瘤病,未发现相关恶性病变证据。乳腺血管肿瘤非常罕见,诊断具有挑战性,且易于局部复发。建议完整切除且切缘清晰。对于无法通过肿块切除或广泛局部切除完全清除的弥漫性病变,可考虑行乳房切除术。小脑成血管细胞瘤和乳腺血管瘤病是一种非常独特的组合,尤其是在没有潜在的 phacomatosis 的情况下。已经观察到血管瘤病的放射学特征可模仿恶性肿瘤,但缺乏特征性影像学表现。了解这些罕见的乳腺血管肿瘤是做出这种不寻常诊断的关键,有助于减少根治性手术的数量。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/151f/6702855/97159908917c/JCIS-9-8-g001.jpg

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