Olson Matthew T, Puttgen Katherine B, Westra William H
Departments of Pathology, The Johns Hopkins University School of Medicine, 401 N. Broadway, Weinberg 2242, Baltimore, MD 21231, USA.
Head Neck Pathol. 2012 Jun;6(2):255-7. doi: 10.1007/s12105-011-0303-x. Epub 2011 Oct 11.
Xeroderma pigmentosum (XP) is a rare autosomal recessive defect in DNA endonuclease activity that is associated with the development of cutaneous malignancies, at sun exposed sites, including basal cell carcinoma, squamous cell carcinoma, and melanoma. Squamous cell carcinomas are also known to target the anterior tongue. Patients sometimes develop angiosarcomas, and these invariably arise from sun-exposed skin. A biopsy was taken from a large mass arising in the anterior tongue of an 11-year-old girl with XP and a history of cutaneous basal cell carcinomas. The histopathologic findings demonstrated a high grade epithelioid neoplasm resembling a poorly differentiated squamous cell carcinoma, but the immunohistochemical profile (AE1/AE3 negative, p63 negative, CD31 positive, CD34 positive) established the diagnosis of angiosarcoma. Angiosarcoma is an XP-related tumor that usually arises in sun-exposed skin but can also arise in the oral cavity. For patients with XP who develop epithelioid neoplasms of the oral cavity, epithelioid angiosarcoma should be considered in the differential diagnosis.
着色性干皮病(XP)是一种罕见的常染色体隐性DNA内切酶活性缺陷疾病,与皮肤恶性肿瘤的发生有关,这些肿瘤发生在阳光暴露部位,包括基底细胞癌、鳞状细胞癌和黑色素瘤。鳞状细胞癌也常见于舌前部。患者有时会发生血管肉瘤,且这些肿瘤总是起源于阳光暴露的皮肤。对一名11岁患有XP且有皮肤基底细胞癌病史的女孩舌前部出现的一个大肿块进行了活检。组织病理学检查结果显示为高级别上皮样肿瘤,类似于低分化鳞状细胞癌,但免疫组化特征(AE1/AE3阴性、p63阴性、CD31阳性、CD34阳性)确诊为血管肉瘤。血管肉瘤是一种与XP相关的肿瘤,通常发生在阳光暴露的皮肤,但也可发生在口腔。对于患有XP且发生口腔上皮样肿瘤的患者,鉴别诊断时应考虑上皮样血管肉瘤。