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散发基底细胞癌的PTCH,SMOH,SUFUH和TP53基因的体细胞突变

世界核心医学期刊文摘（皮肤病学分册） 2005年第7期1卷 5-6页

作者： reifenberger j. Wolter M. Knobbe C.B. 刘燕 Department of Dermatology Heinrich-Heine-University Moorenstra.e 5 D-40225 DüsseldorfGermany

Background: Basal cell carcinoma (BCC) of the skin is the most common human cancer. The genetic alterations underlying BCC development are only partly understood. Obj.ctives: To investigate further the molecular genetics of sporadic BCCs, we performed mutation analyses of 10 skin cancer-associated genes in 42 tumours. Methods: Single-strand conformational polymorphism analysis followed by DNA sequencing was used to screen for mutations in the sonic hedgehog pathway genes PTCH, SMOH, SUFUH and GLI1, in the TP53 tumour suppressor gene, and in the proto-oncogenes NRAS, KRAS, HRAS, BRAF and CTNNB1. Microsatellite markers flanking the PTCH, SUFUH and TP53 loci at 9q22, 10q24 and 17p13, respectively, were studied for loss of heterozygosity (LOH). Results: PTCH mutations were found in 28 of 42 tumours (67% ). Microsatellite analysis revealed LOH on 9q22 in 20 of 38 tumours investigated (53% ), including 14 tumours with and six tumours without PTCH mutations. SMOH mutations were identified in four of the 42 BCCs (10% ) while two tumours demonstrated mutations in SUFUH, including one missense mutation and one silent mutation. None of the BCCs showed LOH at markers flanking the SUFUH locus. Seventeen BCCs (40% ) carried TP53 mutations, with only three tumours showing evidence of biallelic TP53 inactivation. TP53 mutations were present in BCCs with and without mutations in PTCH, SMOH or SUFUH. Interestingly, 72% of the TP53 alterations were presumably ultraviolet (UV)- induced transition mutations. In contrast, only 40% of the PTCH and SMOH alterations corresponded to UV signature mutations. No mutations were identified in GLI1, NRAS, KRAS, HRAS, BRAF or CTNNB1. Conclusions: Our data confirm the importance of PTCH, SMOH and TP53 mutations in the pathogenesis of sporadic BCCs. SUFUH alterations are restricted to individual cases while the other investigated genes do not appear to be important targets for mutations in BCCs.

关键词：基底细胞癌 TP53基因体细胞突变基因突变肿瘤病灶癌相关基因遗传学改变单链构象多态性微卫星标记突变分析

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穿孔性溃疡的治疗措施选择及其局限性

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世界核心医学期刊文摘（皮肤病学分册） 2005年第3期1卷 9-10页

作者： Sonntag M. reifenberger j. Megahed M. Schulte K.W. 牛新武 Hautkli n. der Heinrich-Heine-Univ. Moorenstra.e 5 40225 Dü sseldorf GermanyDr.

Basal cell carcinoma (BCC) is the most common tumor in humans and is defined as a slow-growing, locally invasive, epithelial skin tumor which rarely metast *** first line treatment is surgical excisionwith histologic examination of the tumormargins, but numerous alternative therapies are available. A 75- ya r old patient with the most destructive form of BCC, ulcusterebrans, involving the scalp and invading the frontal bone. We discuss the problems and therapeu tic limitations for this unusual BCC variant.

关键词：穿孔性溃疡基底细胞癌措施选择局部侵袭性上皮肿瘤组织学检查肿瘤标记物溃疡穿孔毁损性其他治疗方法

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皮神经黑变病和恶性黑色素瘤

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世界核心医学期刊文摘（皮肤病学分册） 2005年第3期1卷 8-8页

作者： Tartler U. Mang R. Schulte K.W. j. reifenberger 牛新武 Hautklin. der He inrich Heine-Univ. Moorenstra.e 5 40225 Dü sseldorf GermanyDr.

A 36- year-old man presented with a giant congenital melanocytic n evus and multiple disseminated melanocytic nevi. After he had developed neurological sym ptoms (grand mal seizures), a cerebral metastasis of a malignant melanoma withou t a primary melanoma was found. The patient was diagnosed as having a neurocutan eous melanosis with a cerebral metastasis. In spite of a variety of therapeutic attempts (surgery, radiation therapy and chemotherapy) he followed a rapidly pro gressive, lethal course with increased intracranial pressure, hydrocephalus and spinal metastases.

关键词：恶性黑色素瘤黑变病皮神经黑色素细胞放射治疗脑转移外科手术原发病灶脑水肿

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