A de Muret

Centre Hospitalier Universitaire de Tours, Tours, Centre, France

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Publications (164)342.48 Total impact

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    ABSTRACT: To evaluate the diagnostic value of MDM2 status in craniofacial fibro-osseous lesions, we investigated MDM2 expression by immunohistochemistry and analyzed MDM2 amplification by qPCR in 30 cases of ossifying fibroma (including 13 cases of the juvenile variant) and 17 cases of fibrous dysplasia. Two cases of uncommon extragnathic psammomatoid fibrous dysplasia and a mixed control group of 15 cases of low-grade osteosarcoma and 15 cases of well-differentiated/dedifferentiated liposarcoma were included. MDM2 amplification was found in 33% of ossifying fibromas (peak of 69% for the juvenile variant) and in 12% of fibrous dysplasia, in none of which was MDM2 overexpressed. All control cases exhibited MDM2 amplification and overexpression. To investigate possible polysomy of chromosome 12, we studied RASAL1 amplification, a gene telomeric to MDM2 on the long arm of chromosome 12. RASAL1 amplification was reported in all benign fibro-osseous lesions exhibiting MDM2 amplification but not in controls. Simultaneous amplification of these two genes was significantly higher in juvenile ossifying fibromas compared with fibrous dysplasia (P=0.004), non-juvenile ossifying fibromas (P=0.001), and all other benign craniofacial fibro-osseous lesions combined (P=0.0001). Of the nine cases of juvenile ossifying fibroma exhibiting amplification, three were locally invasive and four were recurrent, suggesting aggressive disease. The two cases of extragnathic psammomatoid fibrous dysplasia also showed MDM2 and RASAL1 amplification with no MDM2 overexpression. This large chromosome 12 rearrangement, spanning MDM2 and RASAL1, is the first recurrent molecular abnormality to be reported in juvenile ossifying fibroma. It may represent both a molecular diagnostic marker and a characteristic of more aggressive forms with a higher risk of recurrence. Finally, the presence of this rearrangement in extragnathic psammomatoid fibro-osseous lesions mimicking ossifying fibromas might reflect a common molecular pathway in their pathogenesis and calls into question the classification of such lesions within fibrous dysplasia.
    Modern Pathology 06/2014; · 5.25 Impact Factor
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    ABSTRACT: Abstract is missing (Short Communication).
    Acta Dermato-Venereologica 05/2014;
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    ABSTRACT: Hepatocellular adenomas (HCA) are benign liver tumors predominantly developed in women using oral contraceptives. Here, exome sequencing identified recurrent somatic FRK mutations that induce constitutive kinase activity, STAT3 activation, and cell proliferation sensitive to Src inhibitors. We also found uncommon recurrent mutations activating JAK1, gp130, or β-catenin. Chromosome copy number and methylation profiling revealed patterns that correlated with specific gene mutations and tumor phenotypes. Finally, integrative analysis of HCAs transformed to hepatocellular carcinoma revealed β-catenin mutation as an early alteration and TERT promoter mutations as associated with the last step of the adenoma-carcinoma transition. In conclusion, we identified the genomic diversity in benign hepatocyte proliferation, several therapeutic targets, and the key genomic determinants of the adenoma-carcinoma transformation sequence.
    Cancer cell 04/2014; 25(4):428-41. · 25.29 Impact Factor
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    ABSTRACT: Mucormycosis are rare fungal infections occurring chiefly in the lung or the rhinocerebral compartment, particularly in patients with immunodeficiency or mellitus diabetes. We report the case of an elderly patient with cutaneous mucormycosis caused by Rhizopus microsporus. An 89-year-old man presented a skin lesion of the forearm rapidly becoming inflammatory and necrotic. The patient had been treated for 2months with oral corticosteroids for idiopathic thrombocytopenia. Histological and mycological examination of the skin biopsy revealed the presence of a filamentous fungus, R. microsporus. The outcome was unfavorable, despite prescription of high-dose liposomal amphotericin B. Mucormycosis are infrequent opportunistic infections caused by angio-invasive fungi belonging to the Mucorales order. Cutaneous presentations are rare, and in rare cases the species R. microsporus is isolated in clinical samples. Diagnosis is based on histological examination highlighting the characteristic mycelium within infected tissue, together with ex vivo mycological identification using morphological and molecular methods. Treatment consists of liposomal amphotericin B combined with debridement surgery. R. microsporus is a marginal fungal species rarely isolated in clinical practice, and even less in dermatology departments. This clinical case report highlights the severity of infection with this fungus, particularly in the absence of early surgery.
    Annales de Dermatologie et de Vénéréologie 03/2014; 141(3):201-5. · 0.60 Impact Factor
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    ABSTRACT: Myoepithelial carcinomas are unusual tumors most often located in salivary glands. It is very rarely located in lacrimal glands; only 5 cases have been reported. We report a sixth case. An 88-year-old male patient presented with diplopia, painless right sided exophthalmia, as well as eyeball deviation due to a tumor located at upper external quadrant of the orbit. A biopsy initially suggested a sarcoma. The pathological analysis of the biopsy allowed diagnosing a myoepithelial carcinoma of the lacrimal gland. Despite the monoblock resection of the tumor, a recurrence was observed 3 months after removal. The patient died 8 months after the initial surgery. This case illustrates the clinical and pathological characteristics of a myoepithelial carcinoma. This tumor has a high grade of malignancy, and is very rarely described in lacrimal glands. The morphological diagnosis of this tumor is difficult with a problematic differential diagnosis with fusiform cells sarcomas (leiomyosarcoma, undifferentiated sarcoma), and epithelial-myoepithelial carcinoma.
    Revue de stomatologie, de chirurgie maxillo-faciale et de chirurgie orale. 01/2014;
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    ABSTRACT: Blastic plasmacytoid dendritic cell neoplasm is a rare clinicopathologic entity, characterized by strong skin tropism and a poor prognosis. The diagnosis is generally made by skin biopsy with appropriate immunohistochemical studies. To identify potential biological prognostic factors for blastic plasmacytoid dendritic cell neoplasm, we performed an extended clinico-immunohistochemical study on a series of 91 well-documented cases collected since 1995 by the French Study Group on Cutaneous Lymphomas. Skin biopsies were analyzed using a panel of 12 immunohistochemical markers (CD4, CD56, CD123, CD303, TCL1, CD68, CD2, CD7, TdT, Ki-67, S100, and MX-1). The results were correlated with survival. The 5 most characteristic markers of this entity (CD4, CD56, CD123, CD303, and TCL1) were expressed simultaneously in only 46% of patients. However, when 4 markers were expressed the diagnosis could still be reliably made without resorting to any additional stains. Expression of TdT and/or S100 correlated with varying degrees of maturation. Statistical survival analyses showed that CD303 expression and high proliferative index (Ki-67) were significantly associated with longer survival.
    The American journal of surgical pathology 01/2014; · 4.06 Impact Factor
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    ABSTRACT: Background Churg-Strauss syndrome often involves the skin, and this may sometimes reveal the disease. Observation A 25-year-old woman was referred to a gynaecologist for inflammation of the right breast with breast discharge. Cytological analysis of the liquid showed numerous inflammatory cells, particularly polymorphonuclear eosinophils and neutrophils. Ultrasound examination of the breast was consistent with galactophoritis. CRP was normal, and hypereosinophilia was seen. The patient was subsequently referred to a dermatology unit. Skin examination revealed inflammation of the entire breast, which was painful, warm and erythematous; the border was oedematous with blisters. Necrotic lesions were also present on the thumbs and knees. Skin biopsy of the breast showed a dermal infiltrate with abundant infiltrate of polymorphonuclear eosinophils, including patchy necrosis and intraepidermal vesicles. Histological examination of a biopsy sample from a thumb revealed eosinophilic granuloma and leukocytoclastic vasculitis. The patient was also presenting asthma, pulmonary infiltrates and mononeuropathy at L3, consistent with Churg-Strauss syndrome. Discussion Breast involvement in Churg-Strauss syndrome is very rare (only one other case has been reported). This is the first case in which the breast condition revealed the disease. Cutaneous involvement of the breast is, however, also compatible with Wells’ cellulitis. The lesions quickly disappeared with 1 mg/kg/d oral prednisolone.
    Annales de Dermatologie et de Vénéréologie 01/2014; 141(1):30–33. · 0.60 Impact Factor
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    ABSTRACT: Introduction Le carcinome myoépithélial est une tumeur rare. Le plus souvent salivaire, sa localisation à la glande lacrymale est exceptionnelle. Cinq cas ont été décrits dans la littérature. Nous en rapportons un sixième. Observation Un patient de 88 ans présentait une diplopie, une exophtalmie droite indolore ainsi qu’une déviation du globe oculaire, du fait d’une tumeur localisée dans le quadrant supéro-externe de l’orbite. Une biopsie évoquait une tumeur à cellules fusiformes de type sarcome. L’examen anatomopathologique de la pièce d’exentération a conclu à un carcinome myoépithélial de la glande lacrymale. Malgré une résection en bloc, la tumeur a récidivé 3 mois après l’exérèse initiale. Le patient est décédé à 8 mois postopératoire. Discussion Ce cas illustre les caractéristiques cliniques et anatomopathologiques d’un carcinome myoépithélial. Cette tumeur a un haut grade de malignité, exceptionnellement décrite au niveau des glandes lacrymales. Le diagnostic morphologique de cette tumeur est difficile et pose principalement le problème du diagnostic différentiel avec des sarcomes à cellules fusiformes (léiomyosarcome, sarcome indifférencié) et le carcinome épithélial-myoépithélial.
    Revue de Stomatologie, de Chirurgie Maxillo-faciale et de Chirurgie Orale. 01/2014; 115(3):172–177.
  • American Journal of Respiratory and Critical Care Medicine 01/2014; 189(1):106-9. · 11.04 Impact Factor
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    ABSTRACT: Churg-Strauss syndrome often involves the skin, and this may sometimes reveal the disease. A 25-year-old woman was referred to a gynaecologist for inflammation of the right breast with breast discharge. Cytological analysis of the liquid showed numerous inflammatory cells, particularly polymorphonuclear eosinophils and neutrophils. Ultrasound examination of the breast was consistent with galactophoritis. CRP was normal, and hypereosinophilia was seen. The patient was subsequently referred to a dermatology unit. Skin examination revealed inflammation of the entire breast, which was painful, warm and erythematous; the border was oedematous with blisters. Necrotic lesions were also present on the thumbs and knees. Skin biopsy of the breast showed a dermal infiltrate with abundant infiltrate of polymorphonuclear eosinophils, including patchy necrosis and intraepidermal vesicles. Histological examination of a biopsy sample from a thumb revealed eosinophilic granuloma and leukocytoclastic vasculitis. The patient was also presenting asthma, pulmonary infiltrates and mononeuropathy at L3, consistent with Churg-Strauss syndrome. Breast involvement in Churg-Strauss syndrome is very rare (only one other case has been reported). This is the first case in which the breast condition revealed the disease. Cutaneous involvement of the breast is, however, also compatible with Wells' cellulitis. The lesions quickly disappeared with 1mg/kg/d oral prednisolone.
    Annales de Dermatologie et de Vénéréologie 01/2014; 141(1):30-3. · 0.60 Impact Factor
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    ABSTRACT: We report a case of subcutaneous infection in a 67 year-old Cambodian man who presented with a 5-month history of swelling of the right foot. Histopathology was compatible with phaeohyphomycosis and the hyphomycete Phialemoniopsis ocularis was identified by the means of morphological and molecular techniques. The patient responded well to a 6-month oral treatment with voriconazole alone.
    Medical Mycology Case Reports. 01/2014;
  • Revue des Maladies Respiratoires. 01/2014; 31(5):457–458.
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    ABSTRACT: Mycosis fungoides (MF), the most common primitive cutaneous T-cell lymphoma, can undergo transformation in about 10% of cases. Transformed mycosis fungoides (T-MF) is often associated with the appearance of a CD20 component. The aim of this study was to analyze whether such cells are reactive or lymphomatous and to evaluate their prognostic impact. Among 311 T-MFs from the French Cutaneous Lymphoma Study Group registry, we studied 148 cases. CD20 was expressed in 88 cases (59%). The proportion of CD20 cells among T-MF lesions was <10% for 54 cases (38%), 10% to 49% for 71 cases (81%), and >50% for 17 cases (19%). We focused the study on 23 cases that contained >50% CD20 cells. To evaluate the nature of the CD20 component, we used immunohistochemistry (2 anti-CD20 antibodies, L26 and 7D1 clones, and 2 other anti-B-cell antigen antibodies, CD22 and PAX5) and a double-stain immunofluorescence technique (anti-CD20 and anti-CD3 antibodies). The clonality of B cells was studied by polymerase chain reaction. Three profiles were observed. In 15 of the 23 cases, the CD20 cells were reactive. In 6 cases, CD20 protein was aberrantly expressed in T-MF lesions. Lastly, there were 2 composite lymphomas (T-MF infiltrate with a B-cell follicular lymphoma). In view of this series, we propose a simple algorithm to help pathologists evaluate the nature of the CD20 component associated with T-MF. Although statistically not significant, there was a trend toward a worse prognosis in the presence of >50% CD20 cells and of a nodular perifollicular pattern of this component.
    The American journal of surgical pathology 10/2013; · 4.06 Impact Factor
  • Journal of the American Academy of Dermatology 10/2013; 69(4):e176-7. · 4.91 Impact Factor
  • G Lebourg, A de Muret, D Goga
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    ABSTRACT: Carcinosarcoma is a very rare malignant tumor of the salivary glands including accessory salivary gland, associating malignant mesenchymal and epithelial tissue. It usually occurs after 50years of age. Its prognosis is very poor. We present a case of carcinosarcoma having evolved extremely rapidly. A 38-year-old female patient presented with an inflammatory budding lesion of the mandibular gingival mucosa. The diagnosis of carcinosarcoma having developed from an accessory salivary gland was made after testing biopsies. The carcinosarcoma could not be removed because of an extremely rapid tumor growth, its volume having increased three fold in 2weeks. The patient died in a few weeks. The occurrence of carcinosarcoma at 38years of age is exceptionally rare. The rapidly evolution of carcinosarcoma is well documented. It may prevent complete excision. This case led us to suggest an emergency management for carcinosarcomas.
    Revue de stomatologie, de chirurgie maxillo-faciale et de chirurgie orale. 08/2013;
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    American Journal of Respiratory and Critical Care Medicine 08/2013; 188(3):402-4. · 11.04 Impact Factor
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    ABSTRACT: Severe acute hepatotoxicity is a well known complication following the ingestion of ecstasy (3,4-methylenedioxymethamphetamine [MDMA] ecstasy). Hepatic dysfunction has also been reported after acute cocaine intoxication. However, chronic hepatitis after prolonged use of ecstasy and/or cocaine has rarely been reported. We report the case of a 27-year-old woman hospitalized with edema, ascites and severe liver failure (prothrombin rate 33%), following the use of ecstasy and cocaine over the previous 9months. Clinical, biological, radiological and pathology findings were recorded at admission and over 8years' follow-up. Liver biopsy showed architectural distortion caused by bridging fibrosis, proliferation of cholangioles, and lesions of active interface hepatitis. Other causes of acute and chronic liver disease were excluded. Magnetic resonance imaging showed marked liver fibrosis. After withdrawal of both substances clinical examination and liver function tests progressively normalized. Long-term monitoring with magnetic resonance imaging showed progressive regression of fibrosis. Use of ecstasy and cocaine may cause chronic hepatitis leading to marked liver fibrosis, which may regress after withdrawal of both substances.
    Gastroentérologie Clinique et Biologique 07/2013; · 0.80 Impact Factor
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    ABSTRACT: Eumycetomas are chronic infectious entities characterized by presence of mycotic grains in (sub-)cutaneous tissues, after accidental inoculation of an exogenous filamentous fungus in the skin. The lesions evolve towards painless pseudotumor of the soft parts. We report the original case of a Guinean woman exhibiting eumycetoma of the right foot. Both laboratory tests identified a dematiaceous fungus, Exophiala jeanselmei, as the responsible infectious agent. A medical treatment with voriconazole alone was sufficient to notice a substantial clinical improvement. This finding is unusual as E. jeanselmei is uncommon in Guinea-Conakry, and as optimal treatment rather associate antifungal azoles and surgical excision.
    Journal de Mycologie Médicale/Journal of Medical Mycology 07/2013; · 0.74 Impact Factor
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    ABSTRACT: GNAS (guanine nucleotide-binding protein/α-subunit) mutations that induce the activation of G-protein α-subunit participate in the pathogenesis of fibrous dysplasia. The aim of this study was to evaluate the sensitivity and specificity of GNAS mutations in fibrous dysplasia and other fibro-osseous lesions, to assess the value of investigating this mutation in the diagnosis of fibro-osseous lesions. We studied 91 cases of fibrous dysplasia. The quality and/or quantity of genomic DNA were suitable for molecular analysis for 51 cases of fibrous dysplasia. GNAS mutations were investigated by three techniques: high-resolution melting (exon 8), allele-specific PCR (exons 8 and 9) and/or direct DNA sequencing (exons 8 and 9). Fibrous dysplasia samples were classified blind to the GNAS mutation status into six histological subtypes as conventional, fibro-involutive, osteosclerosing, cementifying, osteocartilaginous and with prominent aneurysmal cystic changes. We also studied 14 cases of low-grade osteosarcoma, 21 cases of ossifying fibroma, 3 cases of osteofibrous dysplasia, 1 case of osseous dysplasia of the jawbone and 1 post-traumatic lesion of the ribs. Twenty-three cases of fibrous dysplasia (45%) showed mutations of codon 201 (exon 8, p.R201H or p.R201C). No mutation was found on codon 227 (exon 9). GNAS mutations in conventional fibrous dysplasia were detected in the same proportion (47%) as in the other histological subtypes (47%, P=0.96), regardless of sex (P=0.44), age (P=0.90) and location (P=1). GNAS mutations were not detected in any other fibro-osseous lesions. The GNAS mutation was thus specific to fibrous dysplasia in the context of fibro-osseous lesions. The particular mosaicism of mutant and non-mutant cells within the lesion or the existence of other mutations not already described could explain the lack of GNAS mutation in cases of fibrous dysplasia. Investigating this mutation may constitute a valuable complementary diagnostic tool, despite its low sensitivity, particularly in unconventional morphologically different subtypes of fibrous dysplasia.
    Modern Pathology 02/2013; 26. · 5.25 Impact Factor
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    ABSTRACT: The pleuro-pulmonary signs of ankylosing spondylitis are generally asymptomatic, typically represented by biapical lung fibrosis. To our knowledge, the severe bronchiolitis which is sometimes observed in other spondyloarthropathies has not been described in ankylosing spondylitis. We report two cases of severe chronic bronchiolitis in ankylosing spondylitis patients. Their clinical and radiological presentation were similar, characterized by progressive deterioration of stage III-IV dyspnea, non-reversible obstructive ventilatory defect, and CT scan showing air trapping with mosaic attenuation and ground-glass opacity in expiration. Lung biopsies confirmed the diagnosis of severe follicular bronchiolitis in one patient and constrictive bronchiolitis is suspected in the other. Only the patient with follicular bronchiolitis responded positively to treatment with low doses of macrolides.
    Sarcoidosis, vasculitis, and diffuse lung diseases: official journal of WASOG / World Association of Sarcoidosis and Other Granulomatous Disorders 01/2013; 30(3):231-236. · 1.63 Impact Factor

Publication Stats

1k Citations
342.48 Total Impact Points

Institutions

  • 1994–2014
    • Centre Hospitalier Universitaire de Tours
      Tours, Centre, France
  • 1990–2014
    • University of Tours
      Tours, Centre, France
  • 2011
    • Centre Hospitalier Universitaire de Toulouse
      Tolosa de Llenguadoc, Midi-Pyrénées, France
  • 1993–2008
    • CHRU de Strasbourg
      Strasburg, Alsace, France
  • 2001
    • Université Victor Segalen Bordeaux 2
      Burdeos, Aquitaine, France
  • 1998
    • University of Bordeaux
      Burdeos, Aquitaine, France