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表现为血管畸形的细胞性蓝痣内恶性黑色素瘤及其与散发性KRAS突变的关联

Malignant Melanoma within a Cellular Blue Nevi Presenting as a Vascular Malformation and the Connection to Sporadic KRAS Mutations.

作者信息

Tai Felicia, Pereira Vitor M, Babak Sam, Radovanovic Ivan, Sade Shachar, Teshima Tara Lynn

机构信息

Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.

Division of Neurosurgery, Department of Surgery, University of Toronto, Toronto, Ontario, Canada.

出版信息

Case Rep Dermatol. 2021 Jun 18;13(2):310-316. doi: 10.1159/000517202. eCollection 2021 May-Aug.

Abstract

We present a case of malignant melanoma (MM) developing within a vascular malformation showing features of cellular blue nevi. A 47-year-old male presented with acute symptoms of a temporal and zygomatic mass, which were both previously asymptomatic upon development 30 years ago. These masses were diagnosed as vascular malformations upon imaging and were treated with sclerotherapy. Embolization and surgical excision were performed 3 years later due to symptomatic growth. Final pathology reports showed MM with congenital blue nevi. We hypothesize a possible linkage to a sporadic mutation, linking both presentations of vascular malformation, MM, and cellular blue nevi. A literature search for similar cases is also reported.

摘要

我们报告一例发生于具有细胞性蓝色痣特征的血管畸形内的恶性黑色素瘤(MM)。一名47岁男性出现颞部和颧部肿物的急性症状,该肿物30年前出现时并无症状。经影像学检查,这些肿物被诊断为血管畸形,并接受了硬化治疗。3年后,由于肿物出现症状性生长,进行了栓塞和手术切除。最终病理报告显示为伴有先天性蓝色痣的MM。我们推测可能与散发性突变有关,这种突变将血管畸形、MM和细胞性蓝色痣的表现联系了起来。本文还报告了对类似病例的文献检索情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/07e4/8255697/29fca8870aa2/cde-0013-0310-g01.jpg

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