Impact of molecular genotyping on the diagnosis and treatment of human chorionic gonadotropin-producing tumors.

OBJECTIVES: To assess the use of molecular genotyping to accurately diagnose and treat human chorionic gonadotropin (hCG)-producing tumors and to evaluate the discriminating capacity of molecular testing on prognosis and overall survival. METHODS: We conducted a retrospective descriptive study of patients registered with the French Reference Center for Trophoblastic Disease between 1999 and 2021. We included all patients with hCG-producing tumors for whom results of molecular genotyping were available. RESULTS: Fifty-five patients with molecular genotyping were included: 81.2 % (n = 45) had tumors of gestational origin, 12.7 % (n = 7) of non-gestational origin and 5.5 % (n = 3) of undetermined origin. The results of molecular genotyping influenced the treatment decisions for 17 % of patients in this cohort. Overall survival was 93.3 % for patients with gestational tumors (after a median follow-up of 74 months) compared to 71.4 % for patients with non-gestational tumors (after a median follow-up of 23 months). CONCLUSION: In atypical presentations of hCG-producing tumors, molecular genotyping is a valuable tool to guide diagnosis and tailor treatment recommendations.

[Contribution of meb to endometriosis patients' diagnosis and treatment]. / Apport de la réunion de concertation pluridisciplinaire à la pertinence du diagnostic et du traitement de l'endométriose.

OBJECTIVES: Diagnosis and treatment of endometriosis may be complex and therefore justify the discussion of therapeutic decisions in a multidisciplinary endometriosis board (MEB). The development of endometriosis regional expert centers requires an assessment of the quality and relevance of MEB. METHODS: Qualitiative retrospective study on patients whose management was discussed in Centre Hospitalier Lyon-Sud between June 2013 and December 2017. RESULTS: Among 376 patients presented in MEB, 309 (80.2%) were painful and 184 (59.5%) had complex endometriosis. A complete clinical evaluation was performed in 120 (38.8%) patients. MRI was performed for 370 (98.4%) patients including 303 (81.9%) with a second reading by an expert radiologist. These second readings allowed a diagnosis correction in 88 (60.7 %) patients with complex endometriosis. MR enterography (27.8 %) and rectal endoscopic sonography (14.4%) were the most frequently used third-line exams to complete the initial imaging of digestive lesion in patients with rectal endometriosis. Surgery was proposed for 199 (52,9%) patients including 108 (58,7%) with complex endometriosis. CONCLUSION: One of the major interests of MEB in endometriosis is the second reading of MRI, which, by identifying complex endometriosis initially undiagnosed or underestimated, enabled to better discuss the benefits/risks of therapeutic choices, and to organize complex surgeries when those were retained. The development of MEB in regional expert centers will contribute to optimizing the relevance of care for patients with endometriosis.

3D imaging of cleared human skin biopsies using light-sheet microscopy: A new way to visualize in-depth skin structure.

BACKGROUND: Human skin is composed of the superimposition of tissue layers of various thicknesses and components. Histological staining of skin sections is the benchmark approach to analyse the organization and integrity of human skin biopsies; however, this approach does not allow 3D tissue visualization. Alternatively, confocal or two-photon microscopy is an effective approach to perform fluorescent-based 3D imaging. However, owing to light scattering, these methods display limited light penetration in depth. The objectives of this study were therefore to combine optical clearing and light-sheet fluorescence microscopy (LSFM) to perform in-depth optical sectioning of 5 mm-thick human skin biopsies and generate 3D images of entire human skin biopsies. MATERIALS AND METHODS: A benzyl alcohol and benzyl benzoate solution was used to successfully optically clear entire formalin fixed human skin biopsies, making them transparent. In-depth optical sectioning was performed with LSFM on the basis of tissue-autofluorescence observations. 3D image analysis of optical sections generated with LSFM was performed by using the Amira® software. RESULTS: This new approach allowed us to observe in situ the different layers and compartments of human skin, such as the stratum corneum, the dermis and epidermal appendages. With this approach, we easily performed 3D reconstruction to visualise an entire human skin biopsy. Finally, we demonstrated that this method is useful to visualise and quantify histological anomalies, such as epidermal hyperplasia. CONCLUSION: The combination of optical clearing and LSFM has new applications in dermatology and dermatological research by allowing 3D visualization and analysis of whole human skin biopsies.

[Netherton syndrome: a type of infantile erythroderma with failure to thrive, immune deficiency, rickets. Report of 3 cases]. / Le syndrome de Netherton: une ectodermatose du petit nourrisson avec retard de croissance, déficit immunitaire et rachitisme. A propos de 3 cas.

We report the cases of 2 boys and 1 girl suffering from Netherton syndrome. Both boys presented with a non-bullous congenital erythroderma and were diagnosed early as Netherton syndrome with hair biopsies. Both had severe failure to thrive, signs of atopy, several episodes of bacterial infection, and rickets (with a high blood level of vitamin D in the first boy, and vitamin D deficiency in the second). In the third case, the pilar abnormality appeared at the age of 3 years. The girl had ichtyosis linearis circumflexa, failure to thrive and severe constipation. Netherton syndrome is a rare disorder characterized by severe ichtyosis, signs of atopy, immune deficiency and failure to thrive. The disease is severe and comprises many complications in early infancy. It is due to a genetic disorder of recessive autosomal transmission, and the gene, SPINK5, is located in the chromosome 5. Prenatal diagnosis is possible. Two of our patients had rickets, which has never been described in such patients population.