1/44. xeroderma pigmentosum variant associated with multiple cancers.A 62-year-old Japanese man with xeroderma pigmentosum (XP) variant is reported. The patient had developed at least 6 basal cell carcinomas, a squamous cell carcinoma, and a malignant melanoma on sun-exposed areas, and an atypical carcinoid on the right lung. In vivo phototesting showed a normal response. The minimal erythema dose of ultraviolet B (UVB) was not lowered and no delayed peaking of the erythema reaction was observed. His skin fibroblasts exhibited higher sensitivity to UV irradiation, but a normal level of unscheduled DNA and rna synthesis. Cell fusions with XP group A, C, D, E, F, and G cells after UV irradiation were all complemented. Previous reports together with this case suggest that older XP variant patients have a high frequency of not only skin cancers, but also internal malignancies.- - - - - - - - - - ranking = 1keywords = carcinoma (Clic here for more details about this article) |
2/44. Clinical remission of xeroderma pigmentosum-associated squamous cell carcinoma with isotretinoin and chemotherapy: case report.We report the case of a 7-year old boy with xeroderma pigmentosum and a large squamous cell carcinoma of the cheek. He received a combination of isotretinoin (1 mg/kg/day) and chemotherapy for a period of 3 months and showed complete remission of the tumor. Treatment modalities of malignancies in xeroderma pigmentosum are reviewed and discussed in relation to the literature. The advantages of our protocol were emphasized because of the rapid improvement in a short time with minimal side effects.- - - - - - - - - - ranking = 2.5keywords = carcinoma (Clic here for more details about this article) |
3/44. A newly identified patient with clinical xeroderma pigmentosum phenotype has a non-sense mutation in the DDB2 gene and incomplete repair in (6-4) photoproducts.We report here a patient (Ops1) with clinical photosensitivity, including pigmented or depigmented macules and patches, and multiple skin neoplasias (malignant melanomas, basal cell carcinomas, and squamous cell carcinomas in situ) in sun-exposed areas. These clinical features are reminiscent of xeroderma pigmentosum. As cells from Ops1 showed normal levels in dna repair synthesis in vivo (unscheduled DNA synthesis and recovery of rna synthesis after ultraviolet irradiation), we performed a postreplication repair assay and recovery of replicative DNA synthesis after ultraviolet irradiation to investigate if Ops1 cells belonged to a xeroderma pigmentosum variant pattern. Ops1 cells were normal, but there was an incomplete pattern repair in (6-4) photoproducts in contrast to a normal pattern repair in cis-syn cyclobutane pyrimidine dimers by repair kinetics using the enzyme-linked immunosorbent assay. Moreover, Ops1 cells were defective in a damage-specific DNA binding protein and carried a non-sense mutation in the DDB2 gene. These results suggest that (i) the DDB2 gene is somewhat related to skin carcinogenesis, photoaging skin, and the removal of (6-4) photoproducts; (ii) although it is believed that cyclobutane pyrimidine dimers are the principal mutagenic lesion and (6-4) photoproducts are less likely to contribute to ultraviolet-induced mutations in mammals, Ops1 is one of the ultraviolet-induced mutagenic models induced by (6-4) photoproducts.- - - - - - - - - - ranking = 1keywords = carcinoma (Clic here for more details about this article) |
4/44. Cancer protection in xeroderma pigmentosum variant (XP-V).We describe herein a brother and sister diagnosed with xeroderma pigmentosum variant (XP-V) in early adult life, who presented with increased sensitivity to sunlight and with cutaneous carcinomas on sun-damaged skin. The 27-year-old male farmer (Case 1.) was diagnosed with advanced squamous cell carcinoma (SCC) and multiple actinic lesions. Surgical removal of these lesions was performed. Three months later he died of multiple pelvic metastases of SCC. His 29-year-old sister (Case 2.) was operated on for different tumors, histologically SCC-s or basal cell carcinomas (BCC), or praecancerous conditions many times. After a two year interval she was treated with low dose isotretinoin (2 mg/body weight). diagnosis of XP-V was based on unscheduled DNA analysis (USD) and on clinical symptoms. We observed that during the long lasting isotretinoin treatment the tumor frequency dropped to a quarter. Therefore, the isotretinoin treatment seems to be a good approach for cancer prevention in conditions with high predisposition to skin cancer, such as in XP-V.- - - - - - - - - - ranking = 1.5keywords = carcinoma (Clic here for more details about this article) |
5/44. Two unusual tumors in a patient with xeroderma pigmentosum: atypical fibroxanthoma and basosquamous carcinoma.xeroderma pigmentosum (XP) is a rare autosomal recessive disease, characterized by a genetic defect in dna repair. The consequence is a high incidence of skin cancers on sun-exposed cutaneous surfaces of affected children. First lesions appear in the first years of life: telangiectasia, actinic keratosis and keratoacanthomas. Squamous cell and basal cell carcinomas are the most frequent neoplasms. We report the case of a 6-year-old girl affected with XP, who developed two unusual tumors: an atypical fibroxanthoma and a basosquamous carcinoma. In both tumors, immunohistochemical study showed abnormal accumulation of the p53 protein, suggesting the presence of mutation of the p53 tumor suppressor gene. Such p53 mutations may be ultraviolet (UV)-induced, as they are frequently observed in tumors occurring in XP.- - - - - - - - - - ranking = 3keywords = carcinoma (Clic here for more details about this article) |
6/44. Squamous cell carcinoma of the lower lid in a 19-month-old girl with xeroderma pigmentosum.Squamous cell carcinoma (SCC) of the skin usually occurs in older patients and commonly develops from actinic keratosis. patients with xeroderma pigmentosum (XP) can acquire SCC at an early age. To our knowledge the youngest reported patient with XP and SCC was 8 years of age. We report a 19-month-old Lebanese girl with XP who presented clinically because of a rapidly growing mass of the medial part of her right lower lid that was biopsied and found to be squamous cell carcinoma. The mass was surgically excised with no evidence of recurrence after 2 years of follow-up. We describe our clinical experiences with this patient and have reviewed the available literature concerning XP and malignancy.- - - - - - - - - - ranking = 3keywords = carcinoma (Clic here for more details about this article) |
7/44. Coexistence of xeroderma pigmentosum with sarcoidosis and adenocarcinoma of the digestive organs.xeroderma pigmentosum has not been reported in association with any specific diseases except for skin malignancy. We observed a case of its coexistence with sarcoidosis and adenocarcinoma of the digestive organs, which has been reported only once in the past. A 54-year-old Japanese female with a variant type of xeroderma pigmentosum developed successively multiple lesions of basal cell carcinoma and squamous cell carcinoma on her face. Intensive metastasis studies led to the incidental detection of non-caseating epithelioid cell granulomas in one of the palpable right supraclavicular lymph nodes. Similar granulomas were also revealed in the excised tissue specimen of squamous cell carcinomas of her left cheek. She was also found to have bilateral hilar lymphadenopathy and chronic uveitis. Three years later, she died of colon adenocarcinoma and its liver metastasis.- - - - - - - - - - ranking = 4.5keywords = carcinoma (Clic here for more details about this article) |
8/44. Collision of squamous-cell carcinoma with melanoma in situ in a child with xeroderma pigmentosum.Coexistence (collision) of two different neoplasms in the same lesion has previously been documented by several authors. In this report, we describe a 13-year-old boy with xeroderma pigmentosum presenting with squamous-cell carcinoma and melanoma arising at the same site on the nose. Histopathologically, the melanoma component of the lesion was located mainly eccentrically to the squamous-cell carcinoma component. Immunohistochemical stains confirmed the histopathologic findings. Mutations for p53 assessed using single-strand conformation polymorphism, and sequencing analysis revealed a CC-to-TT transition at codon 159 of the p53 gene in the squamous-cell component but not in the melanoma component. This finding suggests a possible role for UV in the pathogenesis of at least the squamous-cell component of the tumor. To the best of our knowledge, this is the first report of a collision tumor comprising squamous-cell carcinoma and melanoma arising in childhood.- - - - - - - - - - ranking = 3.5keywords = carcinoma (Clic here for more details about this article) |
9/44. adult-onset xeroderma pigmentosum neurological disease--observations in an autopsy case.xeroderma pigmentosum (XP) is an inherited disease with defective dna repair. patients develop skin cancer because of unrepaired dna damage produced by the ultraviolet radiation (UV) in sunlight. Many XP children also develop XP neurological disease (ND), consisting of sensorineural hearing loss (SNHL) and a primary neuronal degeneration of the central and peripheral nervous systems. Since the harmful UV in sunlight cannot reach the nervous system, the cause of the death of XP neurons has been hypothesized to result from the inability to repair their DNA that has been damaged by endogenous metabolites. Progressive XP ND originating in an adult has been identified in only a single case. Although clinically asymptomatic at the age of 47 years, the patient had audiometric evidence of a developing mild SNHL together with elicited signs and electrophysiologic evidence of a peripheral neuropathy. She died of metastatic endocervical adenocarcinoma at 49 years of age. We describe here the neuropathological findings in this patient, including examination of the inner ear. Despite clinical evidence of SNHL, there were no anatomic abnormalities of the inner ear. However, the dorsal root ganglia (DRG) showed ongoing neuronal loss. Our findings indicate that XP ND originating in this adult is, like XP ND in children, a primary neuronal degeneration that manifests first in the peripheral nervous system.- - - - - - - - - - ranking = 0.5keywords = carcinoma (Clic here for more details about this article) |
10/44. Therapeutic response of a brother and sister with xeroderma pigmentosum to imiquimod 5% cream.BACKGROUND: xeroderma pigmentosum (XP) is an autosomal recessive disease marked by solar sensitivity, photophobia, early onset of freckling, and solar-induced cutaneous neoplastic changes. These patients can often develop hundreds of cutaneous tumors, making surgical therapy difficult. Imiquimod 5% cream has been shown to have activity in treating various cutaneous malignancies. OBJECTIVE: To examine the effectiveness and tolerability of imiquimod 5% cream in treating facial basal cell carcinomas (BCCs) in a brother and sister with XP. These patients were developing skin cancers faster than could be managed surgically and had failed 6 months of chemoprophylaxis with isotretinoin. methods: Imiquimod 5% cream was applied to the faces of these two patients as frequently as tolerated, with the goal of gaining control over the many clinically evident BCCs present on the faces of these siblings. We also examined whether we could reduce the rate of new neoplasm development. RESULTS: The brother in our study tolerated imiquimod 5% cream twice a day every day with minimal inflammatory response. He had clinical resolution of many of the BCCs present within the treatment area as well as shrinking of many of the remaining lesions. He has continued to produce new tumors at a substantially reduced rate relative to his pretreatment baseline. The sister in our study exhibited a severe inflammatory response to imiquimod 5% cream, with facial swelling and erosion of the treated area with application as infrequent as three times a week. In spite of the vastly different inflammatory response, her cutaneous tumors responded favorably to therapy as well. CONCLUSION: Imiquimod 5% cream was effective in treating facial BCCs in these siblings with XP. As well, we have noted a significant reduction in the development of new tumors within the imiquimod-treated area. The inflammatory response to this medicine was at opposite extremes among these two siblings. However, this did not appear to alter the therapeutic benefit of this therapy.- - - - - - - - - - ranking = 0.5keywords = carcinoma (Clic here for more details about this article) |
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