Publications by authors named "Karine Marrou"

3 Publications

  • Page 1 of 1

Connective tissue nevi: an entity revisited.

J Am Acad Dermatol 2012 Aug 19;67(2):233-9. Epub 2011 Oct 19.

Department of Pediatric Dermatology, Hôpital Necker-Enfants Malades (AP-HP), Paris, France.

Background: Connective tissue nevi (CTN) may be isolated, either sporadic or hereditary, or syndromic as in the Buschke-Ollendorff syndrome. Few publications have addressed the variable clinical and histopathologic expression of these benign hamartomas.

Objective: We sought to characterize the clinical and histopathologic features of CTN and to highlight a spectrum of clinical disease.

Methods: We carried out a retrospective study of cases selected after strict clinical and histopathologic confirmation of the diagnosis.

Results: A total of 33 patients with CTN were included. The average age of onset was 2 years. Three clinical forms were distinguished: type A with lesions at a single site, with one case presenting as an ulcerated infiltrated plaque; type B with two or more sites of involvement; and type C with unusually severe infiltration with functional impairment of a limb. Histopathologic examination of lesional biopsy specimens showed 10 collagenomas, one elastoma, 18 mixed CTN, and an increased number of fibroblasts in 4 cases. No correlation between clinical type and histopathologic findings was observed.

Limitation: This was a descriptive case series.

Conclusions: CTN comprise a clinical spectrum ranging from isolated papules to unusually severe aggressive plaques with monomelic involvement. The histopathologic features are heterogeneous and include a newly described variant, which we name "cellular CTN" because of the increased number of fibroblasts.
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August 2012

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

Corine Bertolotto Fabienne Lesueur Sandy Giuliano Thomas Strub Mahaut de Lichy Karine Bille Philippe Dessen Benoit d'Hayer Hamida Mohamdi Audrey Remenieras Eve Maubec Arnaud de la Fouchardière Vincent Molinié Pierre Vabres Stéphane Dalle Nicolas Poulalhon Tanguy Martin-Denavit Luc Thomas Pascale Andry-Benzaquen Nicolas Dupin Françoise Boitier Annick Rossi Jean-Luc Perrot Bruno Labeille Caroline Robert Bernard Escudier Olivier Caron Laurence Brugières Simon Saule Betty Gardie Sophie Gad Stéphane Richard Jérôme Couturier Bin Tean Teh Paola Ghiorzo Lorenza Pastorino Susana Puig Celia Badenas Hakan Olsson Christian Ingvar Etienne Rouleau Rosette Lidereau Philippe Bahadoran Philippe Vielh Eve Corda Hélène Blanché Diana Zelenika Pilar Galan François Aubin Bertrand Bachollet Céline Becuwe Pascaline Berthet Yves Jean Bignon Valérie Bonadona Jean-Louis Bonafe Marie-Noëlle Bonnet-Dupeyron Fréderic Cambazard Jacqueline Chevrant-Breton Isabelle Coupier Sophie Dalac Liliane Demange Michel d'Incan Catherine Dugast Laurence Faivre Lynda Vincent-Fétita Marion Gauthier-Villars Brigitte Gilbert Florent Grange Jean-Jacques Grob Philippe Humbert Nicolas Janin Pascal Joly Delphine Kerob Christine Lasset Dominique Leroux Julien Levang Jean-Marc Limacher Cristina Livideanu Michel Longy Alain Lortholary Dominique Stoppa-Lyonnet Sandrine Mansard Ludovic Mansuy Karine Marrou Christine Matéus Christine Maugard Nicolas Meyer Catherine Nogues Pierre Souteyrand Laurence Venat-Bouvet Hélène Zattara Valérie Chaudru Gilbert M Lenoir Mark Lathrop Irwin Davidson Marie-Françoise Avril Florence Demenais Robert Ballotti Brigitte Bressac-de Paillerets

Nature 2011 Oct 19;480(7375):94-8. Epub 2011 Oct 19.

1] INSERM, U895 (équipe 1), Equipe labélisée Ligue Contre le Cancer, C3M, 06204 Nice, France [2] Université of Nice Sophia-Antipolis, UFR Médecine, 06204 Nice, France [3] Centre Hospitalier Universitaire de Nice, Service de Dermatologie, 06204 Nice, France [4].

So far, no common environmental and/or phenotypic factor has been associated with melanoma and renal cell carcinoma (RCC). The known risk factors for melanoma include sun exposure, pigmentation and nevus phenotypes; risk factors associated with RCC include smoking, obesity and hypertension. A recent study of coexisting melanoma and RCC in the same patients supports a genetic predisposition underlying the association between these two cancers. The microphthalmia-associated transcription factor (MITF) has been proposed to act as a melanoma oncogene; it also stimulates the transcription of hypoxia inducible factor (HIF1A), the pathway of which is targeted by kidney cancer susceptibility genes. We therefore proposed that MITF might have a role in conferring a genetic predisposition to co-occurring melanoma and RCC. Here we identify a germline missense substitution in MITF (Mi-E318K) that occurred at a significantly higher frequency in genetically enriched patients affected with melanoma, RCC or both cancers, when compared with controls. Overall, Mi-E318K carriers had a higher than fivefold increased risk of developing melanoma, RCC or both cancers. Codon 318 is located in a small-ubiquitin-like modifier (SUMO) consensus site (ΨKXE) and Mi-E318K severely impaired SUMOylation of MITF. Mi-E318K enhanced MITF protein binding to the HIF1A promoter and increased its transcriptional activity compared to wild-type MITF. Further, we observed a global increase in Mi-E318K-occupied loci. In an RCC cell line, gene expression profiling identified a Mi-E318K signature related to cell growth, proliferation and inflammation. Lastly, the mutant protein enhanced melanocytic and renal cell clonogenicity, migration and invasion, consistent with a gain-of-function role in tumorigenesis. Our data provide insights into the link between SUMOylation, transcription and cancer.
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October 2011

The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma.

Br J Cancer 2008 Jul 8;99(2):364-70. Epub 2008 Jul 8.

Groupe Mélanome, Institut Gustave Roussy, FRE2939 CNRS-Université Paris-Sud, Villejuif, France.

Mutations in two genes encoding cell cycle regulatory proteins have been shown to cause familial cutaneous malignant melanoma (CMM). About 20% of melanoma-prone families bear a point mutation in the CDKN2A locus at 9p21, which encodes two unrelated proteins, p16(INK4a) and p14(ARF). Rare mutations in CDK4 have also been linked to the disease. Although the CDKN2A gene has been shown to be the major melanoma predisposing gene, there remains a significant proportion of melanoma kindreds linked to 9p21 in which germline mutations of CDKN2A have not been identified through direct exon sequencing. The purpose of this study was to assess the contribution of large rearrangements in CDKN2A to the disease in melanoma-prone families using multiplex ligation-dependent probe amplification. We examined 214 patients from independent pedigrees with at least two CMM cases. All had been tested for CDKN2A and CDK4 point mutation, and 47 were found positive. Among the remaining 167 negative patients, one carried a novel genomic deletion of CDKN2A exon 2. Overall, genomic deletions represented 2.1% of total mutations in this series (1 of 48), confirming that they explain a very small proportion of CMM susceptibility. In addition, we excluded a new gene on 9p21, KLHL9, as being a major CMM gene.
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July 2008