MEF2D::NCOA2 fusion was recently reported in two vulvovaginal myxoid epithelioid smooth muscle tumors. We aimed to performed an integrated approach combining clinical, morphological, immunohistochemical, and molecular profiling analyses, including targeted-RNA-sequencing, targeted-gene expression analysis profiling with clustering, DNA mutational analysis, and array comparative genomic hybridization (aCGH) in a series of three MEF2D::NCOA2 fusion-associated vulvovaginal tumors, to better described this entity. The median age at diagnosis was 45 years.
View Article and Find Full Text PDFThe distinction between choriocarcinoma and residual trophoblastic cell proliferation from a complete hydatidiform mole/invasive mole (CHM/IM) without villi is challenging on curettage materials. We investigated whether SALL4 immunostaining could help differentiate various gestational trophoblastic diseases. Placental site nodules (PSN; n=10), atypical PSN (APSN; n=8), placental site trophoblastic tumors (PSTT; n=9), epithelioid trophoblastic tumors (ETT; n=5), gestational choriocarcinomas (n=31), partial hydatidiform moles (PHM; n=13), CHM/IM (n=47), and nonmolar products of conception (POC) (n=26) were included.
View Article and Find Full Text PDFObjectives: Because fungal infections (FI) are frequently encountered by pathologists, it is crucial to improve fungal diagnosis on formalin-fixed paraffin-embedded tissues (FT). We aimed to investigate if a histomolecular approach using targeted-massive parallel sequencing (MPS) could help detect and identify fungi on FT when no mycological diagnosis is available on fresh tissue.
Methods: Forty-nine FT from 48 patients with histopathological FI diagnosis but without mycological identification were retrospectively included.
While the latest WHO classification of hematological neoplasms helps refine the diagnostic criteria for anaplastic large cell lymphomas (ALCL), their diagnosis can still be challenging. This retrospective series of 10 ALCL cases illustrates the cytological appearance and immunological profile obtained through flow cytometry (FCM) from various sample types, including lymph node biopsies (LN), peripheral blood (PB), cerebrospinal fluid (CSF), and pleural fluid (PF). ALCL exhibits a polymorphic cytological appearance, ranging from "doughnut" cells to Hodgkin-like cells, very large cells, and small cells, with this polymorphism being particularly pronounced in ALK (-) forms.
View Article and Find Full Text PDFCryptococcus neoformans/gattii and Histoplasma capsulatum var. capsulatum may present atypical histopathological features inducing diagnostic errors. We aimed to estimate the frequency of these atypical features in formalin-fixed tissue (FT) samples and to assess the relevance of an integrated histomolecular diagnosis using specific H.
View Article and Find Full Text PDFThis case report presents an 82-year-old male initially diagnosed with classical mantle cell lymphoma (MCL) that progressed to the aggressive blastoid variant. The patient was initially treated with oral chemotherapy (PEP-C), followed by ibrutinib, but experienced disease progression with central nervous system (CNS) involvement and blastoid morphology. Despite subsequent intensive treatment, including high-dose cytarabine (Cytarabine), rituximab, and intrathecal methotrexate (Methotrexate), the patient's disease continued to advance, resulting in death.
View Article and Find Full Text PDFPrimary vulvar and vaginal adenocarcinomas of intestinal type (VVAIts) are very rare tumors, displaying morphologic and immunohistochemical overlap with colorectal adenocarcinomas. However, their immunoprofile and genomics are poorly studied, and their origin is still debated. Here, we studied a series of 8 VVAIts (4 vulvar and 4 vaginal) using a large panel of immunohistochemistry and DNA and RNA sequencing with clustering analyses.
View Article and Find Full Text PDFThe histological similarities between pleomorphic adenomas (PAs) and cutaneous mixed tumors (CMTs) found in certain facial regions can create a diagnostic challenge. Molecular findings reveal common genetic profiles, particularly PLAG1 rearrangements in both PA and CMT. Although molecular distinctions have received limited attention, our observations indicate multiple cases of CMTs carrying the TRPS1::PLAG1 fusion.
View Article and Find Full Text PDFMarginal Zone Lymphoma (MZL) comprises three subtypes: extranodal MZL (EMZL), splenic MZL (SMZL) and nodal MZL (NMZL). Since clinical trials have limited representativeness, there is a need for real-world data (RWD) evidence in MZL. Real-world data in Lymphoma and survival in Adults (REALYSA) is a prospective multicentric French cohort of newly diagnosed lymphoma patients.
View Article and Find Full Text PDFThe apicoplast is an essential organelle for the viability of apicomplexan parasites or , which has been proposed as a suitable drug target for the development of new antiplasmodial drug-candidates. Plasmodione, an antimalarial redox-active lead drug is active at low nM concentrations on several blood stages of such as early rings and gametocytes. Nevertheless, its precise biological targets remain unknown.
View Article and Find Full Text PDFG-Quadruplex (G4) DNA structures are important regulatory elements in central biological processes. Small molecules that selectively bind and stabilize G4 structures have therapeutic potential, and there are currently >1000 known G4 ligands. Despite this, only two G4 ligands ever made it to clinical trials.
View Article and Find Full Text PDFOvarian sex cord-stromal tumors (SCSTs) account for 8% of all primary ovarian neo-plasms. Accurate diagnosis is crucial since each subtype has a specific prognostic and treatment. Apart from fibrosarcomas, stromal tumors are benign while sex cord tumors may recur, sometimes with a significant time to relapse.
View Article and Find Full Text PDFSince the description of primary mediastinal large B-cell lymphoma (PMBL) as a distinct entity from diffuse large B-cell lymphomas (DLBCL), numerous studies have made it possible to improve their definition. Despite this, this differential diagnosis can be challenging in daily practice. However, in some centers, PMBL may be treated according to a particular regimen, distinct from those used in DLBCL, emphasizing the importance of accurate identification at diagnosis.
View Article and Find Full Text PDFHydatidiform moles (HMs) are divided into two types: partial hydatidiform mole (PHM) which is most often diandric monogynic triploid and complete hydatidiform mole (CHM) which is most often diploid androgenetic. Morphological features and p57 immunostaining are routinely used to distinguish both entities. Genetic analyses are required in challenging cases to determine the parental origin of the genome and ploidy.
View Article and Find Full Text PDFAggressive CD30-positive cutaneous T-cell lymphomas (CD30CTCL) are associated with unfavorable prognosis. Anthracycline-based polychemotherapy (CHOP) and brentuximab-vedotin (BV) monotherapy are related to poor outcomes in case of extracutaneous involvement or rapidly-progressing disease. Our objective was to assess the effectiveness of BV + CHP in aggressive CD30CTCL.
View Article and Find Full Text PDFT-follicular helper (TFH) markers are expressed in the microenvironnement of marginal zone B-cell lymphoma (MZL), and in lymphomas arising from TFH-cells, sometimes making the differential diagnosis difficult. In the skin, the "TFH-spectrum" is poorly defined, going from primary cutaneous lymphoproliferative disorder with small/medium CD4+ T-cells (SMLPD) to cutaneous localizations of systemic angioimmunoblastic T-cell lymphoma (cAITL), and may pass through intermediate forms (primary cutaneous T-follicular helper derived lymphoma, not otherwise specified (PCTFHL,NOS)). We retrospectively analyzed 20 MZL, 13 SMLPD, 5 PCTFHL, and 11 cAITL clinically, histologically, and molecularly, to define tools to differentiate them.
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