Pathology and Genetics of Skin Tumours

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New Book Pathology and Genetics of Skin Tumours (IARC WHO Classification of Tumours)

Massi , R. Scolyer , R.


Melanocytic tumours 3. Appendageal tumours 4. Haematolymphoid tumours 5. Soft tissue and neural tumours 6. Inherited tumour syndromes associated with skin malignancies. David Elder. Donnez votre avis. Je m'inscris. Service client Nous contacter Frais de port et livraison Moyens de paiement Echange et remboursement Suivi de commande. S2 and Supplementary Table S8. Error bars represent s. No association was found between the presence of the mutation and the age of the patients. In this work, we report for the first time the presence of these mutations in different histotypes of thyroid cancer, and our results validate the findings reported by others in melanoma, bladder and gliomas 1 , 2 , 3.

The location of these mutations in the TERT promoter, rather than the coding region of the gene, creating additional binding sites for transcription factors, represents also a novel mechanism of genetic activation in cancer. The frequency of TERT mutations we detected in skin melanomas is similar to that reported by Horn et al.

Growths, neoplasms, and cancers of the skin

In our series, we have analysed few metastatic melanomas that did not show a significantly higher percentage of TERT mutations. As our series is too small to allow a conclusion, it remains to be verified if there is an increased frequency of TERT mutations in metastatic melanomas, as suggested by previous reports 1 , 2. This finding, together with the high frequency of TERT mutations in metastatic melanomas 1 , suggests that, although BRAF mutations are thought to be an early event in melanoma genesis, TERT mutations may occur at a later stage.

Our results further support the assumption that ocular melanomas result from different etiopathogenic mechanism than skin melanomas 5 , 6.

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It has been shown that TERT mutations conferred enhanced TERT promoter activity in vitro 1 , 2 ; our findings fit with this assumption because we observed that GBM with TERT promoter mutations appear to display increased telomerase expression, despite the limited sensitivity of IHC and the low number of cases analysed. Our results are also in concordance with those of Lotsch et al. It will be interesting to assess whether the GBM positive for telomerase activity described by Lotsch et al. Our findings also indicate that TERT mutations are associated with older patients, in accordance with a recent report 3.

In thyroid cancer, TERT mutations were only found in follicular cell-derived cancers PTC, follicular thyroid carcinoma, poorly differentiated thyroid carcinoma and anaplastic thyroid carcinoma. No mutations were detected in medullary thyroid carcinomas, as described by Killela et al. TERT mutations were associated with clinicopathological features older age, increased tumour size and male gender , but, after histotype stratification, these associations were only maintained in cPTC.

Studies in larger series will be necessary to clarify these associations. Our results reinforce the hypothesis of a link between BRAF activation and telomerase expression, which can be mediated by transcription factors binding to the newly created consensus binding sites, as previously advanced by Horn et al.

Pathology and Genetics of Skin Tumours (IARC/World Health Organization Classification of Tumours)

Further observational and mechanistic studies are needed to clarify these points. TERT alterations seem to constitute an early and frequent event in bladder cancer. These findings fit with the high prevalence of telomerase activity previously described in bladder tumours The recurrent hotspot mutations in TERT were advanced to be, in melanomas, induced by ultraviolet radiation 2.

Bladder is a target for several chemical carcinogens; it remains to be found whether TERT mutations can also result from the action of such agents. The identification of TERT mutations in urine may provide a biomarker for early diagnosis and monitoring of bladder cancer. The underlying reasons for the tissue specificity of TERT mutations remain to be clarified. We can hypothesize that TERT mutations can be present in two settings. As described by Killela et al. On the other hand, these mutations can also result from environmental factors such as ultraviolet radiation and chemical carcinogens as suggested by their high frequency in melanoma, bladder and tongue 1 , 2 , 3.

In summary, our data identify TERT mutations as common events in human cancers and support the assumption that TERT promoter mutations may be one of the mechanisms that underlies telomerase reactivation in several types of human tumours.

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All the procedures described in this study were in accordance with national and institutional ethical standards and previously approved by Local Ethical Review Committees. According to Portuguese law, informed consent is not required for retrospective studies. Formalin-fixed, paraffin-embedded tissues from nine cases of sporadic nevi, 56 cases of sporadic skin melanomas and 25 cases of ocular melanoma were retrieved from the files of the Hospital S.

All skin melanoma cases were re-evaluated and staged according to the seventh edition of the American Joint Committee on Cancer The overall female:male ratio was 1. The mean age of the patients was 58 years for females s. The mean follow-up time of patients was 41 months range 1— The remaining patients were alive and without evidence of melanoma recurrence at the last follow-up. The histology of all tumour samples was revised, and the final classification was made according to the WHO criteria In Supplementary Tables S6 and S7 , we have summarized the information regarding histological classification of the lesions, gender, mean age of the patients, molecular data and the size of the tumours.

Formalin-fixed, paraffin-embedded tissues were collected from 82 patients with non-muscle invasive bladder cancer who underwent transurethral resection of the bladder malignant tumours in the Portuguese Institute of Oncology, Porto. Haematoxylin—eosin-stained sections were reviewed according to the standard histopathological examination by two independent pathologists. Supplementary Table S9 summarizes the clinicopathological parameters.

Information addressing the diagnosis, age, gender, nuclear grade and staging is obtainable in Supplementary Table S Supplementary Table S11 summarizes the clinicopathological parameters. Tumours were classified according to the WHO pathological classification 16 , and the parameters analysed in each case included: age, gender and tumour size. These data and the molecular characterization of these tumours can be observed in Supplementary Table S The genetic characterization of part of the tumours had already been previously reported.

For information on primers and PCR conditions, see refs 5 , 17 , We also included a normal reference that was produced by pooling RNAs from nine samples of normal thyroid tissue IHC for telomerase was performed in representative tumour tissue sections of 14 glioblastomas.

Omission of the primary antibody incubation was used as negative control. Previously tested liver cancer case was used as positive control. IHC evaluation was performed independently by two observers V. Statistical analysis was conducted with StatView for Windows, version 5. Statistical analysis was performed both on the whole series and considering the different groups of lesions.

Graphs and figures were done in GraphPad v6. How to cite this article: Vinagre, J. Frequency of TERT promoter mutations in human cancers. Horn, S. TERT promoter mutations in familial and sporadic melanoma. Science , — Huang, F. Highly recurrent TERT promoter mutations in human melanoma. Killela, P. TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal.

Natl Acad. USA , — Van Raamsdonk, C. Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi.


Nature , — Populo, H. Evaluation of the mTOR pathway in ocular uvea and conjunctiva melanoma. Melanoma Res. Lotsch, D. Prognostic significance of telomerase-associated parameters in glioblastoma: effect of patient age. Soares, P. Genetic alterations in poorly differentiated and undifferentiated thyroid carcinomas.

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Genomics 12 , — Capezzone, M. Telomere length in neoplastic and nonneoplastic tissues of patients with familial and sporadic papillary thyroid cancer. Sanchini, M. Relevance of urine telomerase in the diagnosis of bladder cancer. JAMA , — Edge, S. DeLellis R.