Publications by authors named "Marie Christine Machet"

Article Synopsis
  • - Naevoid basal cell carcinoma syndrome (NBCCS) is a rare genetic condition caused by mutations in the Sonic Hedgehog (SHH) pathway, leading to early development of multiple basal cell carcinomas (BCCs) and related skin tumors like basaloid follicular hamartoma (BFH).
  • - A study analyzed 140 skin tumors from NBCCS patients and 140 control BCC tumors to compare their morphological characteristics, finding that BFH was exclusively present in NBCCS patients and had distinct histopathological features.
  • - The research indicates that BFH could represent precursors to BCC, as it was identified in up to 24% of the tumors in NBCCS patients, with possible
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Background: Aspergillus spp. is an uncommon and life-threatening cause of transplantrenal artery pseudoaneurysm after kidney transplantation.

Case: We report the case of a 62-year-old woman who underwent kidney transplantation 10 months before and presented a 7-cm asymptomatic transplant renal artery pseudoaneurysm.

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Article Synopsis
  • Merkel cell carcinoma (MCC) is a serious skin cancer linked to the Merkel cell polyomavirus (MCPyV) in 80% of cases, with the remaining 20% associated with UV exposure; both types involve the inactivation of the RB1 gene leading to increased SOX2 expression.
  • In a study of 196 MCC tumors, it was found that RB1 loss was present in 27% of MCC cases, indicating a strong correlation with MCPyV-negative status, whereas MCPyV-positive cases remained RB1-positive.
  • SOX2 was shown to be a key diagnostic marker, with 92% of MCC tumors expressing it diffusely compared to only 2% in non-neuro
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BCOR-ITD tumours form an emerging family of aggressive entities with an internal tandem duplication (ITD) in the last exon of the BCOR gene. The family includes cerebral tumours, termed central nervous system BCOR-ITD (CNS BCOR-ITD), and sarcomatous types described in the kidney as clear cell sarcoma of the kidney (CCSK), in the endometrium as high-grade endometrial stromal sarcoma, and in the bone and soft tissue as undifferentiated round cell sarcoma or primitive myxoid mesenchymal tumour of infancy. Based on a series of 33 retrospective cases, including 10 CNS BCOR-ITD and 23 BCOR-ITD sarcomas, we interrogated the homogeneity of the entity regarding clinical, radiological, and histopathological findings, and molecular signatures.

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Purpose: To prospectively assess the impact of expert pathological review of skin adnexal carcinoma diagnosis in France.

Methods: From 2014 to 2019, 2573 samples from patients with newly diagnosed or suspected skin adnexal carcinomas were reviewed prospectively by expert pathologists through the national CARADERM (CAncers RAres DERMatologiques) network. Changes in diagnosis between referral and expert review were analysed regarding their potential impact on patient care or prognosis.

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Primary membranous nephropathy (MN) is an autoimmune glomerular disease in which autoantibodies are directed against podocyte proteins. In about 80% of cases the main targeted antigen is the phospholipase A2 receptor 1 (PLA2R1). Anti-PLA2R1 antibodies are mainly immunoglobulin G type 4 (IgG4).

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The cIMPACT-NOW Update 7 has replaced the WHO nosology of "ependymoma, RELA fusion positive" by "Supratentorial-ependymoma, C11orf95-fusion positive". This modification reinforces the idea that supratentorial-ependymomas exhibiting fusion that implicates the C11orf95 (now called ZFTA) gene with or without the RELA gene, represent the same histomolecular entity. A hot off the press molecular study has identified distinct clusters of the DNA methylation class of ZFTA fusion-positive tumors.

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Background: Infection-related glomerulonephritis with IgA deposits (IRGN-IgA) is a rare disease but it is increasingly reported in the literature. Data regarding epidemiology and outcome are lacking, especially in Europe. We aimed to assess the clinical, pathologic and outcome data of IRGN-IgA.

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Introduction: Classical pauci-immune necrotizing crescentic glomerulonephritis (CGN) associated with antineutrophil cytoplasmic autoantibodies (ANCA) is characterized by the absence of renal immunoglobulin (Ig) deposits. However, IgG deposits can sometimes be present. We wanted to assess whether necrotizing CGN with IgG deposits is associated with a more severe presentation and outcome than necrotizing CGN without IgG deposits.

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Purpose:  High-frequency transient elastography (HF-TE) is a noninvasive technique for assessing shear-wave speed and finally elasticity in thin tissue such as the skin. It has never been validated for monitoring fibrotic skin diseases. The purpose was to evaluate the potential of HF-TE to assess skin fibrosis in patients with chronic venous disorders (CVD).

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Human parvovirus B19 has been associated with various cases of kidney injuries with different glomerular phenotypes. In immunocompromised individuals, insufficient production of neutralizing antibodies can lead to chronic PVB19 carriage and manifestations. However, PVB19 DNA has been detected in bone marrow and peripheral blood for months or years in seemingly immunocompetent individuals, despite the presence of neutralizing antibodies.

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Cutaneous spindle-cell neoplasms in adults as well as children represent a frequent dilemma for pathologists. Along this neoplasm spectrum, the differential diagnosis with CD34-positive proliferations can be challenging, particularly concerning neoplasms of fibrohistiocytic and fibroblastic lineages. In children, cutaneous and superficial soft-tissue neoplasms with CD34-positive spindle cells are associated with benign to intermediate malignancy potential and include lipofibromatosis, plaque-like CD34-positive dermal fibroma, fibroblastic connective tissue nevus, and congenital dermatofibrosarcoma protuberans.

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Background: The diagnosis of acute rejection in cardiac transplant recipients requires invasive technique with endomyocardial biopsy (EMB) which has risks and limitations. Cardiovascular magnetic resonance imaging (CMR) with T2 and T1 mapping is a promising technique for characterizing myocardial tissue. The purpose of the study was to evaluate T2, T1 and extracellular volume fraction (ECV) quantification as novel tissue markers to diagnose acute rejection.

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Chronic skin ulcers and burns require advanced treatments. Mesenchymal Stromal Cells (MSCs) are effective in treating these pathologies. Bone Morphogenic Protein-2 (BMP-2) is known to enhance angiogenesis.

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Pleuropulmonary blastoma (PPB) is a rare primitive intrathoracic malignant neoplasm that occurs almost exclusively in children and adolescents. PPB is classified into three types according to the presence of cystic and solid areas. We report a case of PPB with an intraocular metastasis diagnosed by fine needle aspiration (FNA): 3-year-old female was treated for type II PPB by neoadjuvant chemotherapy and surgery.

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Background: Clear cell ependymoma is one of the 4 main histological subtypes of ependymomas defined by the World Health Organization (WHO) classification of tumors of the CNS. DNA methylation profiling can distinguish 4 subgroups of intracranial ependymomas, including supratentorial (ST) ependymomas with Yes-associated protein 1 fusion (YAP1), ST ependymomas with fusion of v-rel avian reticuloendotheliosis viral oncogene homolog A (RELA), posterior fossa ependymomas with balanced genome, and posterior fossa ependymomas with chromosomal instability. In addition, trisomy 19 is a genomic hallmark of ependymomas with rich branching capillaries.

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