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407 results on '"Libbrecht, Louis"'

3. Single‐cell RNA sequencing of cystic fibrosis liver disease explants reveals endothelial complement activation.

Author

Declercq, Mathias, Treps, Lucas, Geldhof, Vincent, Conchinha, Nadine V., de Rooij, Laura P. M. H., Subramanian, Abhishek, Feyeux, Magalie, Cotinat, Marine, Boeckx, Bram, Vinckier, Stefan, Dupont, Lieven, Vermeulen, Francois, Boon, Mieke, Proesmans, Marijke, Libbrecht, Louis, Pirenne, Jacques, Monbaliu, Diethard, Jochmans, Ina, Dewerchin, Mieke, and Eelen, Guy

Subjects
HEPATIC fibrosis, RNA sequencing, COMPLEMENT activation, CYSTIC fibrosis, THERAPEUTICS
Abstract

Background & Aims: Cystic fibrosis (CF) is considered a multisystemic disorder in which CF‐associated liver disease (CFLD) is the third most common cause of mortality. Currently, no effective treatment is available for CFLD because its pathophysiology is still unclear. Interestingly, CFLD exhibits identical vascular characteristics as non‐cirrhotic portal hypertension, recently classified as porto‐sinusoidal vascular disorders (PSVD). Methods: Since endothelial cells (ECs) are an important component in PSVD, we performed single‐cell RNA sequencing (scRNA‐seq) on four explant livers from CFLD patients to identify differential endothelial characteristics which could contribute to the disease. We comprehensively characterized the endothelial compartment and compared it with publicly available scRNA‐seq datasets from cirrhotic and healthy livers. Key gene signatures were validated ex vivo on patient tissues. Results: We found that ECs from CF liver explants are more closely related to healthy than cirrhotic patients. In CF patients we also discovered a distinct population of liver sinusoidal ECs—coined CF LSECs—upregulating genes involved in the complement cascade and coagulation. Finally, our immunostainings further validated the predominant periportal location of CF LSECs. Conclusions: Our work showed novel aspects of human liver ECs at the single‐cell level thereby supporting endothelial involvement in CFLD, and reinforcing the hypothesis that ECs could be a driver of PSVD. Therefore, considering the vascular compartment in CF and CFLD may help developing new therapeutic approaches for these diseases. [ABSTRACT FROM AUTHOR]

Published
2024
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8. Recurrent and novel fusions detected by targeted RNA sequencing as part of the diagnostic workflow of soft tissue and bone tumours.

Author

Zago Baltazar, Rafael, Claerhout, Sofie, Vander Borght, Sara, Spans, Lien, Sciot, Raphael, Schöffski, Patrick, Hompes, Daphne, Sinnaeve, Friedl, Wafa, Hazem, Renard, Marleen, van den Hout, Mari FCM, Vernemmen, Astrid, Libbrecht, Louis, De Roo, An‐Katrien, Mazzeo, Filomena, van Marcke, Cédric, Deraedt, Karen, Bourgain, Claire, and Vanden Bempt, Isabelle

Subjects
RNA sequencing, GENE fusion, TUMORS, WORKFLOW software, TISSUES, WORKFLOW
Abstract

The identification of gene fusions has become an integral part of soft tissue and bone tumour diagnosis. We investigated the added value of targeted RNA‐based sequencing (targeted RNA‐seq, Archer FusionPlex) to our current molecular diagnostic workflow of these tumours, which is based on fluorescence in situ hybridisation (FISH) for the detection of gene fusions using 25 probes. In a series of 131 diagnostic samples targeted RNA‐seq identified a gene fusion, BCOR internal tandem duplication or ALK deletion in 47 cases (35.9%). For 74 cases, encompassing 137 FISH analyses, concordance between FISH and targeted RNA‐seq was evaluated. A positive or negative FISH result was confirmed by targeted RNA‐seq in 27 out of 49 (55.1%) and 81 out of 88 (92.0%) analyses, respectively. While negative concordance was high, targeted RNA‐seq identified a canonical gene fusion in seven cases despite a negative FISH result. The 22 discordant FISH‐positive analyses showed a lower percentage of rearrangement‐positive nuclei (range 15–41%) compared to the concordant FISH‐positive analyses (>41% of nuclei in 88.9% of cases). Six FISH analyses (in four cases) were finally considered false positive based on histological and targeted RNA‐seq findings. For the EWSR1 FISH probe, we observed a gene‐dependent disparity (p = 0.0020), with 8 out of 35 cases showing a discordance between FISH and targeted RNA‐seq (22.9%). This study demonstrates an added value of targeted RNA‐seq to our current diagnostic workflow of soft tissue and bone tumours in 19 out of 131 cases (14.5%), which we categorised as altered diagnosis (3 cases), added precision (6 cases), or augmented spectrum (10 cases). In the latter subgroup, four novel fusion transcripts were found for which the clinical relevance remains unclear: NAB2::NCOA2, YAP1::NUTM2B, HSPA8::BRAF, and PDE2A::PLAG1. Overall, targeted RNA‐seq has proven extremely valuable in the diagnostic workflow of soft tissue and bone tumours. [ABSTRACT FROM AUTHOR]

Published
2024
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14. Breast-implant Related Silicone Lymphadenopathy: Asteroid Bodies do not Always Equal Sarcoidosis!

Author

Van Bockstal, Mieke R., Libbrecht, Louis, Dubail, Angélique, Berlière, Martine, and Galant, Christine

Subjects
*BREAST, *ASTEROIDS, *MULTINUCLEATED giant cells, *FOREIGN body reaction, *BREAST implants, *SILICONES, *SARCOIDOSIS
Abstract

Silicone breast implants are frequently used for breast augmentation for cosmetic purposes, as well as for breast reconstruction after prophylactic or therapeutic mastectomy. Silicone lymphadenopathy is a well-known complication of silicone breast implants. Silicone droplets are present in the breast tissue through 'silicone bleeding' of the implant or because of implant rupture. These silicone particles can migrate from the breast to the regional lymph nodes. Silicone lymphadenopathy is caused by a substantial foreign body reaction against these silicone particles, and is frequently associated with asteroid body-containing multinucleated giant cells. Similar multinucleated giant cells are often observed in the capsule surrounding the silicone breast implant, and the number of associated asteroid bodies is highly variable. Here, we discuss a series of twelve women with breast implant-related asteroid bodies in their lymph nodes and/or breast tissue. This pictorial essay illustrates that the presence of asteroid bodies in a lymph node does not necessarily suggests a diagnosis of sarcoidosis. Clinical information about the patient having (or having had) silicone breast implants is often lacking. The encounter of asteroid body-containing giant cells in lymph node cytology, biopsies or resections should therefore lead to reflex clinical-pathological correlation, before establishing a final diagnosis. [ABSTRACT FROM AUTHOR]

Published
2023
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20. The Distinct Innate Immune Response of Warm Ischemic Injured Livers during Continuous Normothermic Machine Perfusion.

Author

Blondeel, Joris, Gilbo, Nicholas, Heedfeld, Veerle, Wylin, Tine, Libbrecht, Louis, Jochmans, Ina, Pirenne, Jacques, Korf, Hannelie, and Monbaliu, Diethard

Subjects
REPERFUSION, IMMUNE response, PERFUSION, LIVER, COLD storage, MYOCARDIAL perfusion imaging, COOLING systems
Abstract

Although normothermic machine perfusion (NMP) provides superior preservation of liver grafts compared to static cold storage and allows for viability testing of high-risk grafts, its effect on the liver immune compartment remains unclear. We investigated the innate immune response during 6 h of continuous NMP (cNMP) of livers that were directly procured (DP, n = 5) or procured after 60 min warm ischemia (WI, n = 5), followed by 12 h of whole blood (WB) reperfusion. WI livers showed elevated transaminase levels during cNMP but not after WB reperfusion. Perfusate concentrations of TNF-α were lower in WI livers during cNMP and WB reperfusion, whereas IL-8 concentrations did not differ significantly. TGF-β concentrations were higher in WI livers during NMP but not after WB reperfusion, whereas IL-10 concentrations were similar. Endoplasmic stress and apoptotic signaling were increased in WI livers during cNMP but not after WB reperfusion. Additionally, neutrophil mobilization increased to a significantly lesser extent in WI livers at the end of NMP. In conclusion, WI livers exhibit a distinct innate immune response during cNMP compared to DP livers. The cytokine profile shifted towards an anti-inflammatory phenotype during cNMP and WB reperfusion, and pro-apoptotic signaling was stronger during cNMP. During WB reperfusion, livers exhibited a blunted cytokine release, regardless of ischemic damage, supporting the potential reconditioning effect of cNMP. [ABSTRACT FROM AUTHOR]

Published
2023
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23. Epithelioid Fibrous Histiocytoma with CARS-ALK Fusion: First Case Report.

Author

Secco, Léo-Paul, Libbrecht, Louis, Seijnhaeve, Elsa, Eggers, Silke, Dekairelle, Anne-France, and De Roo, An-Katrien

Subjects
*DERMATOFIBROMA, *SOFT tissue tumors, *ANAPLASTIC lymphoma kinase, *SKIN tumors, *GENE rearrangement
Abstract

Epithelioid fibrous histiocytoma (EFH) is a type of uncommon skin tumor mostly harboring Anaplastic Lymphoma Kinase (ALK) gene rearrangement, with different fusion partners reported. Whether this tumor is a separate entity or has a relationship with conventional fibrous histiocytomas is still a matter of debate. Benign course is the rule after complete surgical excision. A rare subtype of EFH with fusiform cells has been described, with specific fusion partners. Inflammatory myofibroblastic tumor (IMT) is a type of soft tissue tumor rarer than EFH, and it can display distant metastases. Some cases of primary cutaneous IMT included two with Cysteinyl-tRNA Synthetase 1 (CARS)-ALK rearrangement. IMT can have the same fusion partners as EFH, such as DCTN1, TMP3 or EML4 genes. We report the case of a 42-year-old woman presenting EFH with fusiform morphology harboring CARS-ALK fusion and discuss similarities and differences with IMT. [ABSTRACT FROM AUTHOR]

Published
2023
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41. A novel prognostic subtype of human hepatocellular carcinoma derived from hepatic progenitor cells

Author

Lee, Ju-Seog, Heo, Jeonghoon, Libbrecht, Louis, Chu, In-Sun, Kaposi-Novak, Pal, Calvisi, Diego F, Mikaelyan, Arsen, Roberts, Lewis R, Demetris, Anthony J, Sun, Zongtang, Nevens, Frederik, Roskams, Tania, and Thorgeirsson, Snorri S

Abstract

Author(s): Ju-Seog Lee [1]; Jeonghoon Heo [1]; Louis Libbrecht [2]; In-Sun Chu [3]; Pal Kaposi-Novak [1]; Diego F Calvisi [1]; Arsen Mikaelyan [1]; Lewis R Roberts [4]; Anthony J Demetris [...]

Published
2006
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