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We addressed uncertainties regarding hereditary leiomyomatosis and renal cell carcinoma (HLRCC) by exploring all French cases, representing the largest series to date. Fumarate hydratase (FH) germline testing was performed with Sanger sequencing and qPCR/MLPA. Enzyme activity was measured when necessary. We carried out whenever possible a pathology review of RCC and S-(2-succino)-cysteine (2SC)/fumarate hydratase immunohistochemistry. We estimated survival using non-parametric Kaplan-Meier. There were 182 cases from 114 families. Thirty-seven RCC were diagnosed in 34 carriers (19%) at a median age of 40. Among the 23 RCC with pathology review, 13 were papillary type 2. There were 4 papillary RCC of unspecified type, 3 unclassified, 2 tubulocystic, and 1 collecting duct (CD) RCC, all 2SC+ and most (8/10) FH-. Of the remaining 14, papillary type 2, papillary unspecified, CD, and clear cell histologies were reported. The vast majority of RCC (82%) were metastatic at diagnosis or rapidly became metastatic. Median survival for metastatic disease was 18 months (95%CI: 11-29). 133 cases (73%) had a history of cutaneous leiomyomas, 3 developed skin leiomyosarcoma. Uterine leiomyomas were frequent in women (77%), but no sarcomas were observed. Only 2 cases had pheochromocytomas/paraganglioma. CONCLUSION: Our findings have direct implications regarding the identification and management of HLRCC patients.

Tumour hypoxia can lead to a decrease in the biological effectiveness of radiation and alkylating agents. Few data are available on oxygen tension (PO2) in melanoma. In 20 patients with past history of melanoma, PO2 was evaluated in normal tissues and suspected metastatic lesions (nodes and skin metastases). Oxygen tension was measured using a needle probe technique (KIMOC-6650 histograph, Eppendorf, Germany), the day before the surgical removal of the suspected metastatic lesion. Histological confirmation of the malignant origin of the removed lesion was obtained in 18 cases. In two cases invasion by the known melanoma was not seen histologically. The median PO2 for normal tissues was 40.5 mmHg. For tumours, the median PO2 was 11.6 mmHg, and it was 17.1 mmHg in nodes and 6.7 mmHg in skin metastases. Very low values (< 2 mmHg) accounted for 20% of the recorded values in nodes and 15% in skin metastases. When analysed according to the node size (< or > or = 3 cm in diameter), the median PO2 was 10.4 mmHg in large nodes (six patients) and 53.3 mmHg in small nodes (six patients). For the two non-tumoral lesions, the median PO2 values were 20.9 and 25.1 mmHg, with no values below 10 mmHg. Thus a decrease in PO2 values, probably corresponding to tumour hypoxia, was found in most of the metastatic tumours when compared with normal tissues. The prognostic value of these PO2 measurements in melanoma remains to be demonstrated in the tumour response to radiotherapy or alkylating agents. However, tumour hypoxia can already be investigated as a target for new treatment modalities in metastatic melanoma.

Journal Article Common skin cancers in porokeratosis Get access E. Maubec, E. Maubec Departments of Dermatology, *Pathology and †Surgery, Institut Gustave Roussy, Villejuif, France E‐mail: eve.maubec@bch.ap‐hop‐paris.fr Search for other works by this author on: Oxford Academic Google Scholar P. Duvillard, P. Duvillard Departments of Dermatology, *Pathology and †Surgery, Institut Gustave Roussy, Villejuif, France E‐mail: eve.maubec@bch.ap‐hop‐paris.fr Search for other works by this author on: Oxford Academic Google Scholar A. Margulis, A. Margulis Departments of Dermatology, *Pathology and †Surgery, Institut Gustave Roussy, Villejuif, France E‐mail: eve.maubec@bch.ap‐hop‐paris.fr Search for other works by this author on: Oxford Academic Google Scholar B. Bachollet, B. Bachollet Departments of Dermatology, *Pathology and †Surgery, Institut Gustave Roussy, Villejuif, France E‐mail: eve.maubec@bch.ap‐hop‐paris.fr Search for other works by this author on: Oxford Academic Google Scholar G. Degois, G. Degois Departments of Dermatology, *Pathology and †Surgery, Institut Gustave Roussy, Villejuif, France E‐mail: eve.maubec@bch.ap‐hop‐paris.fr Search for other works by this author on: Oxford Academic Google Scholar M‐F. Avril M‐F. Avril Departments of Dermatology, *Pathology and †Surgery, Institut Gustave Roussy, Villejuif, France E‐mail: eve.maubec@bch.ap‐hop‐paris.fr Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 152, Issue 6, 1 June 2005, Pages 1389–1391, https://doi.org/10.1111/j.1365-2133.2005.06639.x Published: 01 June 2005

Abstract Background Classic Kaposi's sarcoma ( CKS ) occurs predominantly among elderly men and is associated with Kaposi's sarcoma‐associated herpesvirus ( KSHV ). In low‐endemic countries, KSHV infects predominantly men having sex with men ( MSM ). Objectives To describe a cohort of classic Kaposi sarcoma in a low‐endemic area for KSHV , to highlight the features of CKS in MSM and identify prognostic factors. Methods Retrospective single‐centre study of CKS cases. We compared MSM to heterosexual patients. Then, we divided the patients into two subgroups, those requiring a systemic treatment and the others, and we performed univariate and multivariate analyses to determine aggressiveness of CKS . Results Between 2006 and 2015, seventy‐four patients were included. Mean age at diagnosis was 68.9 years; sex ratio (M/F) was 6.4, and 28% were MSM ; MSM patients were younger ( P = 0.02), less often originated from endemic areas ( P &lt; 0.0001). KS was less severe ( P = 0.04), required more often a local treatment than a systemic one ( P = 0.03). On multivariate analysis, CD 4 T‐cell count &gt; 500/mm 3 at baseline was associated with a reduced risk of severe evolution. Conclusion First CKS cohort in low‐endemic zone. We describe a fifth subtype of KS : KS in MSM . The CD 4 T‐cell count was found to correlate with prognosis.