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Article ; Online: Update of Pediatric Lipomatous Lesions

Eline Ameloot / Fleur Cordier / Jo Van Dorpe / David Creytens

Journal of Clinical Medicine, Vol 11, Iss 1938, p

A Clinicopathological, Immunohistochemical and Molecular Overview

2022 Volume 1938

Abstract: Lipomatous neoplasms are a rare entity in the pediatric population, comprising less than 10% of soft tissue tumors in the first two decades of life. Some characteristics of pediatric adipocytic tumors are analogous to their adult counterparts, some ... ...

Abstract	Lipomatous neoplasms are a rare entity in the pediatric population, comprising less than 10% of soft tissue tumors in the first two decades of life. Some characteristics of pediatric adipocytic tumors are analogous to their adult counterparts, some pediatric lipomatous lesions however harbor unique features. In recent years, there have been significant advances in the understanding of the pathogenesis and hence in the classification and treatment of pediatric adipocytic tumors. This literature-based article will provide a review of the presently known clinicopathological, immunohistochemical and molecular features of pediatric lipomatous lesions.
Keywords	adipocytic ; lipoblastoma ; lipoblastomatosis ; lipomatosis ; liposarcoma ; pediatric ; Medicine ; R
Language	English
Publishing date	2022-03-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: The Rapidly Expanding Group of RB1 -Deleted Soft Tissue Tumors

Sasha Libbrecht / Jo Van Dorpe / David Creytens

Diagnostics, Vol 11, Iss 3, p

An Updated Review

2021 Volume 430

Abstract: The classification of soft tissue tumors has evolved considerably in the last decade, largely due to advances in understanding the pathogenetic basis of many of these, sometimes rare, tumors. Deletion of Retinoblastoma 1 ( RB1 ), a well-known tumor ... ...

Abstract	The classification of soft tissue tumors has evolved considerably in the last decade, largely due to advances in understanding the pathogenetic basis of many of these, sometimes rare, tumors. Deletion of Retinoblastoma 1 ( RB1 ), a well-known tumor suppressor gene, has been implicated in the tumorigenesis of a particular group of soft tissue neoplasms. This group of so-called “ RB1 -deleted soft tissue tumors” has been rapidly expanding in recent years, currently consisting of spindle cell/pleomorphic lipoma, atypical spindle cell/pleomorphic lipomatous tumor, pleomorphic liposarcoma, myofibroblastoma, cellular angiofibroma, and acral fibromyxoma. Most of these neoplasms, except pleomorphic liposarcoma, are considered benign entities and are mainly described in the older adult population. This article will review the currently known morphological, immunohistochemical, and molecular features of this heterogeneous group of mesenchymal tumors with an emphasis on differential diagnosis.
Keywords	retinoblastoma ; soft tissue tumor ; RB1 ; spindle cell/pleomorphic lipoma ; atypical spindle cell/pleomorphic lipomatous tumor ; pleomorphic liposarcoma ; Medicine (General) ; R5-920
Subject code	571
Language	English
Publishing date	2021-03-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Mesonephric-Like Adenocarcinoma of the Endometrium

Ellen Deolet / Jo Van Dorpe / Koen Van de Vijver

Journal of Clinical Medicine, Vol 10, Iss 4, p

Diagnostic Advances to Spot This Wolf in Sheep’s Clothing. A Review of the Literature

2021 Volume 698

Abstract: Mesonephric-like adenocarcinoma is a recently described rare neoplasm occurring in the uterine corpus and ovary. This under-recognized subtype of carcinoma can be very challenging to diagnose. In mesonephric adenocarcinoma a variety of growth patterns ... ...

Abstract	Mesonephric-like adenocarcinoma is a recently described rare neoplasm occurring in the uterine corpus and ovary. This under-recognized subtype of carcinoma can be very challenging to diagnose. In mesonephric adenocarcinoma a variety of growth patterns can be present within the same tumor, as a result of which they can be misinterpreted and diagnosed as low-grade endometrioid adenocarcinoma, clear cell carcinoma, or even serous carcinoma and carcinosarcoma. We report a case of mesonephric-like adenocarcinoma misdiagnosed as a low-grade endometrioid endometrial adenocarcinoma that had an early local recurrence and metastasized to the liver and the lungs. Histopathological, immunohistochemical and molecular analysis were performed and compared to published literature, providing a comprehensive overview of the current knowledge. Databases (Pubmed, Web of Science, Google Scholar) were searched with a combination of the following search terms: mesonephric-like, mesonephric, adenocarcinoma, carcinoma, uterine body, uterine corpus, endometrium. Mesonephric-like adenocarcinoma is a difficult-to-diagnose entity. Advanced diagnostics, including improved morphologic, immunohistochemical and molecular knowledge can help develop new therapeutic strategies against this specific subtype of endometrial cancer with an aggressive clinical behavior.
Keywords	mesonephric-like adenocarcinoma ; uterus ; endometrium ; histology ; immunohistochemistry ; molecular ; Medicine ; R
Language	English
Publishing date	2021-02-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Targeting connexins with Gap27 during cold storage of the human donor uterus protects against cell death.

Katarzyna J Szymanska / Menekse Göker / Melissa Bol / Jo Van Dorpe / Steven Weyers / Luc Leybaert

PLoS ONE, Vol 15, Iss 12, p e

2020 Volume 0243663

Abstract: Uterus transplantation is an experimental infertility treatment for women with uterine factor infertility. During donor uterus retrieval and subsequent storage, ischemia and other stressors are likely to occur, resulting in the delayed restoration of ... ...

Abstract	Uterus transplantation is an experimental infertility treatment for women with uterine factor infertility. During donor uterus retrieval and subsequent storage, ischemia and other stressors are likely to occur, resulting in the delayed restoration of organ function and increased graft rejection. The uterus expresses connexin-based hemichannels, the opening of which can promote ischemic cell death, as well as gap junctions that may expand cell death by bystander signaling. We investigated if connexin channel inhibition with connexin channel inhibitor Gap27 could protect the uterus against cell death during the storage period. The study involved 9 female patients undergoing gender-change surgery. Before uterus removal, it was exposed to in situ warm ischemia with or without reperfusion. Uterus biopsies were taken before, during, and after ischemia, with or without reperfusion, and were subsequently stored under cold (4ᵒC) or warm (37ᵒC) conditions. TUNEL cell death assay was done at various time points along the combined in vivo/ex vivo experimental timeline. We found that Gap27 protected against storage-related cell death under cold but not warm conditions when the uterus had experienced in situ ischemia/reperfusion. For in situ brief ischemia without reperfusion, Gap27 reduction of cell death was delayed and significantly less, suggesting that protection critically depends on processes initiated when the organ was still in the donor. Thus, the inclusion of the connexin channel inhibitor Gap27 during cold storage protects the uterus against cell death, and the degree of protection depends on the history of exposure to warm ischemia. Gap27 protection may be indicated for uteri from deceased donors, in which ischemia is likely because life-saving organs have retrieval priority.
Keywords	Medicine ; R ; Science ; Q
Subject code	610
Language	English
Publishing date	2020-01-01T00:00:00Z
Publisher	Public Library of Science (PLoS)
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Comparison of microsatellite instability detection by immunohistochemistry and molecular techniques in colorectal and endometrial cancer

Franceska Dedeurwaerdere / Kathleen BM Claes / Jo Van Dorpe / Isabelle Rottiers / Joni Van der Meulen / Joke Breyne / Koen Swaerts / Geert Martens

Scientific Reports, Vol 11, Iss 1, Pp 1-

2021 Volume 15

Abstract: Abstract DNA mismatch repair deficiency (dMMR) testing is crucial for diagnosing Lynch syndrome and detection of microsatellite unstable (MSI) tumors eligible for immunotherapy. The aim of this study was to compare the relative diagnostic performance of ... ...

Abstract	Abstract DNA mismatch repair deficiency (dMMR) testing is crucial for diagnosing Lynch syndrome and detection of microsatellite unstable (MSI) tumors eligible for immunotherapy. The aim of this study was to compare the relative diagnostic performance of three molecular MSI assays: polymerase chain reaction (PCR), MSI testing by Idylla and next-generation-sequencing (NGS) on 49 tumor samples (28 colorectal and 21 endometrial adenocarcinomas) versus immunohistochemistry (IHC). Discrepancies were investigated by MLH1 methylation analysis and integrated with germline results if available. Overall, the molecular assays achieved equivalent diagnostic performance for MSI detection with area under the ROC curves (AUC) of respectively 0.91 for Idylla and PCR, and 0.93 for NGS. In colorectal cancers with tumor cell percentages ≥ 30% all three molecular assays achieved 100% sensitivity and specificity (AUC = 1) versus IHC. Also, in endometrial cancers, all three molecular assays showed equivalent diagnostic performance, albeit at a clearly lower sensitivity ranging from 58% for Idylla to 75% for NGS, corresponding to negative predictive values from 78 to 86%. PCR, Idylla and NGS show similar diagnostic performance for dMMR detection in colorectal and endometrial cancers. Molecular MSI analysis has lower sensitivity for dMMR detection in endometrial cancer indicating that combined use of both IHC and molecular methods is recommended. Clinical Trial Number/IRB: B1172020000040, Ethical Committee, AZ Delta General Hospital.
Keywords	Medicine ; R ; Science ; Q
Language	English
Publishing date	2021-06-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development

Andrea Wilderman / Eva D’haene / Machteld Baetens / Tara N. Yankee / Emma Wentworth Winchester / Nicole Glidden / Ellen Roets / Jo Van Dorpe / Sandra Janssens / Danny E. Miller / Miranda Galey / Kari M. Brown / Rolf W. Stottmann / Sarah Vergult / K. Nicole Weaver / Samantha A. Brugmann / Timothy C. Cox / Justin Cotney

Nature Communications, Vol 15, Iss 1, Pp 1-

2024 Volume 23

Abstract: Abstract Craniofacial abnormalities account for approximately one third of birth defects. The regulatory programs that build the face require precisely controlled spatiotemporal gene expression, achieved through tissue-specific enhancers. Clusters of ... ...

Abstract	Abstract Craniofacial abnormalities account for approximately one third of birth defects. The regulatory programs that build the face require precisely controlled spatiotemporal gene expression, achieved through tissue-specific enhancers. Clusters of coactivated enhancers and their target genes, known as superenhancers, are important in determining cell identity but have been largely unexplored in development. In this study we identified superenhancer regions unique to human embryonic craniofacial tissue. To demonstrate the importance of such regions in craniofacial development and disease, we focused on an ~600 kb noncoding region located between NPVF and NFE2L3. We identified long range interactions with this region in both human and mouse embryonic craniofacial tissue with the anterior portion of the HOXA gene cluster. Mice lacking this superenhancer exhibit perinatal lethality, and present with highly penetrant skull defects and orofacial clefts phenocopying Hoxa2-/- mice. Moreover, we identified two cases of de novo copy number changes of the superenhancer in humans both with severe craniofacial abnormalities. This evidence suggests we have identified a critical noncoding locus control region that specifically regulates anterior HOXA genes and copy number changes are pathogenic in human patients.
Keywords	Science ; Q
Subject code	616
Language	English
Publishing date	2024-01-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Combined Gold Recovery and Nanoparticle Synthesis in Microbial Systems Using Fractional Factorial Design

Suanny Mosquera-Romero / Juan Anaya-Garzon / Cristina Garcia-Timermans / Jo Van Dorpe / Anne Hoorens / Nadine Commenges-Bernole / Kim Verbeken / Korneel Rabaey / Jeet Varia

Nanomaterials, Vol 13, Iss 1, p

2022 Volume 83

Abstract: Green synthesis of gold nanoparticles (AuNPs) using microorganisms has been generally studied aiming for high-yield production and morphologies appropriated for various applications, such as bioremediation, (bio)sensors, and (bio)catalysis. Numerous ... ...

Abstract	Green synthesis of gold nanoparticles (AuNPs) using microorganisms has been generally studied aiming for high-yield production and morphologies appropriated for various applications, such as bioremediation, (bio)sensors, and (bio)catalysis. Numerous approaches showed the individual effect of factors influencing the synthesis of AuNPs with limited analysis of the governing factors enhancing the production and desired quality of the precipitates. This study proposes a fractional-factorial design to investigate the simultaneous influence of seven environmental factors (cell concentration, temperature, anoxic/oxic conditions, pH, gold concentration, electron donor type, and bacterial species) on the recovery yield and synthesis of targeted AuNPs. Various sizes and morphologies of the AuNPs were obtained by varying the environmental factors studied. The factors with significant effects (i.e., 0.2 mM Au and pH 5) were selected according to statistical analysis for optimal removal of 88.2 ± 3.5% of gold and with the production of valuable 50 nm AuNPs, which are known for their enhanced sensitivity. Implications of the cytochrome-C on the bacterial mechanisms and the provision of electron donors via an electrochemical system are further discussed. This study helps develop gold recovery and nanoparticle synthesis methods, focusing on the determining factor(s) for efficient, low-cost, green synthesis of valuable materials.
Keywords	metal recovery ; bio-precipitation ; hydrogen electron-donor ; metallic nanoparticles ; Chemistry ; QD1-999
Subject code	540
Language	English
Publishing date	2022-12-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: A challenging diagnosis of a nonsecretor plasma cell dyscrasia with pleomorphic plasmablastic morphology

Stijn Van Landeghem / Sara Capiau / Jean‐Louis Bayart / Philip Vlummens / Jo Van Dorpe / Nadine Van Roy / Jan Philippé

Clinical Case Reports, Vol 8, Iss 12, Pp 3069-

2020 Volume 3073

Abstract: Abstract This report highlights the importance of integrating clinical, radiological, genetic, and pathological laboratory findings to make a correct diagnosis especially with challenging and rare entities. ...

Abstract	Abstract This report highlights the importance of integrating clinical, radiological, genetic, and pathological laboratory findings to make a correct diagnosis especially with challenging and rare entities.
Keywords	flow cytometry ; morphology ; multiple myeloma ; Medicine ; R ; Medicine (General) ; R5-920
Language	English
Publishing date	2020-12-01T00:00:00Z
Publisher	Wiley
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Cost-effective and robust genotyping using double-mismatch allele-specific quantitative PCR

Steve Lefever / Ali Rihani / Joni Van der Meulen / Filip Pattyn / Tom Van Maerken / Jo Van Dorpe / Jan Hellemans / Jo Vandesompele

Scientific Reports, Vol 9, Iss 1, Pp 1-

2019 Volume 11

Abstract: Abstract For a wide range of diseases, SNPs in the genome are the underlying mechanism of dysfunction. Therefore, targeted detection of these variations is of high importance for early diagnosis and (familial) screenings. While allele-specific PCR has ... ...

Abstract	Abstract For a wide range of diseases, SNPs in the genome are the underlying mechanism of dysfunction. Therefore, targeted detection of these variations is of high importance for early diagnosis and (familial) screenings. While allele-specific PCR has been around for many years, its adoption for SNP genotyping or somatic mutation detection has been hampered by its low discriminating power and high costs. To tackle this, we developed a cost-effective qPCR based method, able to detect SNPs in a robust and specific manner. This study describes how to combine the basic principles of allele-specific PCR (the combination of a wild type and variant primer) with the straightforward readout of DNA-binding dye based qPCR technology. To enhance the robustness and discriminating power, an artificial mismatch in the allele-specific primer was introduced. The resulting method, called double-mismatch allele-specific qPCR (DMAS-qPCR), was successfully validated using 12 SNPs and 15 clinically relevant somatic mutations on 48 cancer cell lines. It is easy to use, does not require labeled probes and is characterized by high analytical sensitivity and specificity. DMAS-qPCR comes with a complimentary online assay design tool, available for the whole scientific community, enabling researchers to design custom assays and implement those as a diagnostic test.
Keywords	Medicine ; R ; Science ; Q
Language	English
Publishing date	2019-02-01T00:00:00Z
Publisher	Nature Publishing Group
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Detection and Characterization of a Biochemical Signature Associated with Diabetic Nephropathy Using Near-infrared Spectroscopy on Tissue Sections

Sander De Bruyne / Jo Van Dorpe / Jonas Himpe / Wim Van Biesen / Sigurd Delanghe / Marijn M. Speeckaert / Joris R. Delanghe

Journal of Clinical Medicine, Vol 8, Iss 7, p

2019 Volume 1022

Abstract: Histological evaluation of renal biopsies is currently the gold standard for acquiring important diagnostic and prognostic information in diabetic nephropathy (DN) patients. Nevertheless, there is an unmet clinical need for new biomarkers that allow ... ...

Abstract	Histological evaluation of renal biopsies is currently the gold standard for acquiring important diagnostic and prognostic information in diabetic nephropathy (DN) patients. Nevertheless, there is an unmet clinical need for new biomarkers that allow earlier diagnosis and risk stratification. As biochemical changes in tissues must precede any symptomatic or morphological expression of a disease, we explored the potential of near-infrared (NIR) spectroscopy in the detection of a biochemical signature associated with DN. Kidney tissue sections were investigated using NIR spectroscopy, followed by principal component analysis and soft independent modelling of class analogy. A biochemical signature indicative of DN was detected, which enabled perfect discrimination between tissue sections with normal histological findings ( n = 27) and sections obtained from DN patients ( n = 26). Some spectral changes related to carbamoylation and glycation reactions appeared to be similar to the ones obtained in patients with DN. In addition, treatment with the deglycating enzyme fructosamine-3-kinase resulted in partial to pronounced restorations of the spectral pattern. Significant relationships were found between spectral features and laboratory parameters indicative of glycemic and uremic load, such as hemoglobin A1c, urea, creatinine, estimated glomerular filtration rate, and proteinuria. The presented method could be a useful tool to complement histopathological analysis in order to prevent or delay further disease progression, especially in the setting of post-transplant surveillance kidney biopsies.
Keywords	near-infrared spectroscopy ; diabetic nephropathy ; post-translational modifications ; renal tissue ; Medicine ; R
Subject code	610
Language	English
Publishing date	2019-07-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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