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International Journal of Surgery Case... Jul 2024Cutaneous leiomyomas, benign tumors from smooth muscle fibers, constitute about 5 % of all leiomyomas. They exhibit diverse inheritance patterns and can be linked to...
INTRODUCTION AND IMPORTANCE
Cutaneous leiomyomas, benign tumors from smooth muscle fibers, constitute about 5 % of all leiomyomas. They exhibit diverse inheritance patterns and can be linked to systemic malignancies. Gastrointestinal stromal tumors (GISTs), arising from the interstitial cells of Cajal, are the most common mesenchymal tumors in the gastrointestinal tract. Despite their prevalence, simultaneous occurrences of cutaneous leiomyomas and GISTs are rare, necessitating exploration of their potential relationship.
CASE PRESENTATION
A 25-year-old male with no significant medical history presented with multiple painful erythematous nodules on his chest, upper back, and arms. Histopathological analysis diagnosed these as multiple cutaneous piloleiomyomatosis. Despite recommendations for surgical intervention, the patient chose medical management and experienced significant pain relief with nifedipine. Later, the development of abdominal symptoms led to the discovery of multiple gastric lesions, diagnosed as benign spindle cell neoplasms, necessitating partial gastrectomy.
CLINICAL DISCUSSION
The differential diagnosis of cutaneous leiomyomas includes various soft tissue tumors, requiring histopathological confirmation. Genetic mutations affecting proteins critical to cellular energy production and tumor suppression underlie these conditions. Treatment options include pharmacological management and surgical excision. The discovery of GISTs in this patient aligns with rare literature reports, emphasizing the need for vigilant evaluation of systemic malignancies in patients with leiomyomatosis.
CONCLUSION
This case highlights the potential of cutaneous leiomyomas to indicate deeper malignancies like GISTs, stressing the importance of interdisciplinary collaboration in diagnosis and treatment. It underscores the interconnectedness of benign dermatological conditions and internal malignancies, advocating for comprehensive evaluation in patients with leiomyomatosis.
METHODS
This case report meticulously follows the SCARE 2023 guidelines: updating consensus Surgical Case Report guidelines (Sohrabi et al., 2023 [1]). These guidelines ensure high-quality reporting in surgical case reports. The report details the evaluation, diagnosis, and a comprehensive review of the literature pertaining to a patient with multiple leiomyoma cutis associated with gastrointestinal stromal tumors. By employing a multidisciplinary approach, this report achieves a thorough and standardized presentation of the case, serving as an additional tool for raising awareness regarding such rare conditions.
PubMed: 38851074
DOI: 10.1016/j.ijscr.2024.109870 -
The Journal of Experimental Medicine Aug 2024Due to bladder tumors' contact with urine, urine-derived cells (UDCs) may serve as a surrogate for monitoring the tumor microenvironment (TME) in bladder cancer (BC)....
Due to bladder tumors' contact with urine, urine-derived cells (UDCs) may serve as a surrogate for monitoring the tumor microenvironment (TME) in bladder cancer (BC). However, the composition of UDCs and the extent to which they mirror the tumor remain poorly characterized. We generated the first single-cell RNA-sequencing of BC patient UDCs with matched tumor and peripheral blood mononuclear cells (PBMC). BC urine was more cellular than healthy donor (HD) urine, containing multiple immune populations including myeloid cells, CD4+ and CD8+ T cells, natural killer (NK) cells, B cells, and dendritic cells (DCs) in addition to tumor and stromal cells. Immune UDCs were transcriptionally more similar to tumor than blood. UDCs encompassed cytotoxic and activated CD4+ T cells, exhausted and tissue-resident memory CD8+ T cells, macrophages, germinal-center-like B cells, tissue-resident and adaptive NK cells, and regulatory DCs found in tumor but lacking or absent in blood. Our findings suggest BC UDCs may be surrogates for the TME and serve as therapeutic biomarkers.
Topics: Urinary Bladder Neoplasms; Humans; Tumor Microenvironment; Male; Killer Cells, Natural; Female; CD8-Positive T-Lymphocytes; Aged; CD4-Positive T-Lymphocytes; Single-Cell Analysis; Dendritic Cells; Middle Aged; Leukocytes, Mononuclear; RNA-Seq; Single-Cell Gene Expression Analysis
PubMed: 38847806
DOI: 10.1084/jem.20240045 -
Technology in Cancer Research &... 2024DNA methylation is an essential epigenetic marker governed by DNA methyltransferases (DNMTs), which can influence cancer onset and progression. However, few studies...
DNA methylation is an essential epigenetic marker governed by DNA methyltransferases (DNMTs), which can influence cancer onset and progression. However, few studies have provided an integrated analysis of the relevance of DNMT family genes to cell stemness, the tumor microenvironment (TME), and immunotherapy biomarkers across diverse cancers. This study investigated the impact of five DNMTs on transcriptional profiles, prognosis, and their association with Ki67 expression, epithelial-mesenchymal transition signatures, stemness scores, the TME, and immunological markers across 31 cancer types from recognized public databases. The results indicated that DNMT1/DNMT3B/DNMT3A expression increased, whereas TRDMT1/DNMT3L expression decreased in most cancer types. DNMT family genes were identified as prognostic risk factors for numerous cancers, as well as being prominently associated with immune, stromal, and ESTIMATE scores, as well as with immune-infiltrating cell levels. Expression of the well-known immune checkpoints, PDCD1 and CILA4, was noticeably related to DNMT1/DNMT3A/DNMT3B expression. Finally, we validated the role of DNMT1 in MCF-7 and HepG2-C3A cell lines through its knockdown, whereafter a decrease in cell proliferation and migration ability in vitro was observed. Our study comprehensively expounded that DNMT family genes not only behave as promising prognostic factors but also have the potential to serve as therapeutic targets in cancer immunotherapy for various types of cancer.
Topics: Humans; Neoplasms; DNA (Cytosine-5-)-Methyltransferases; Tumor Microenvironment; Gene Expression Regulation, Neoplastic; Prognosis; DNA Methylation; Disease Progression; Biomarkers, Tumor; Cell Line, Tumor; Epithelial-Mesenchymal Transition; Epigenesis, Genetic; Gene Expression Profiling; Cell Proliferation; Computational Biology; DNA (Cytosine-5-)-Methyltransferase 1
PubMed: 38847740
DOI: 10.1177/15330338241260658 -
Radiology. Imaging Cancer Jun 2024Purpose To develop a molecular breast imaging (MBI)-guided biopsy system using dual-detector MBI and to perform initial testing in participants. Materials and Methods...
Purpose To develop a molecular breast imaging (MBI)-guided biopsy system using dual-detector MBI and to perform initial testing in participants. Materials and Methods The Stereo Navigator MBI Accessory biopsy system comprises a lower detector, upper fenestrated compression paddle, and upper detector. The upper detector retracts, allowing craniocaudal, oblique, or medial or lateral biopsy approaches. The compression paddle allows insertion of a needle guide and needle. Lesion depth is calculated by triangulation of lesion location on the upper detector at 0° and 15° and relative lesion activity on upper and lower detectors. In a prospective study (July 2022-June 2023), participants with Breast Imaging Reporting and Data System category 2, 3, 4, or 5 breast lesions underwent MBI-guided biopsy. After injection of 740 MBq technetium 99m sestamibi, craniocaudal and mediolateral oblique MBI (2-minute acquisition per view) confirmed lesion visualization. A region of interest over the lesion permitted depth calculation in the system software. Upper detector retraction allowed biopsy device placement. Specimen images were obtained on the retracted upper detector, confirming sampling of the target. Results Of 21 participants enrolled (mean age, 50.6 years ± 10.1 [SD]; 21 [100%] women), 17 underwent MBI-guided biopsy with concordant pathology. No lesion was observed at the time of biopsy in four participants. Average lesion size was 17 mm (range, 6-38 mm). Average procedure time, including preprocedure imaging, was 55 minutes ± 13 (range, 38-90 minutes). Pathology results included invasive ductal carcinoma ( = 1), fibroadenoma ( = 4), pseudoangiomatous stromal hyperplasia ( = 6), and fibrocystic changes ( = 6). Conclusion MBI-guided biopsy using a dual-head system with retractable upper detector head was feasible, well tolerated, and efficient. Breast Biopsy, Molecular Breast Imaging, Image-guided Biopsy, Molecular Breast Imaging-guided Biopsy, Breast Cancer Clinical trial registration no. NCT06058650 © RSNA, 2024.
Topics: Humans; Female; Breast Neoplasms; Middle Aged; Prospective Studies; Image-Guided Biopsy; Adult; Technetium Tc 99m Sestamibi; Molecular Imaging; Aged; Radiopharmaceuticals; Breast
PubMed: 38847615
DOI: 10.1148/rycan.230186 -
Cureus May 2024A 74-year-old man who presented with upper abdominal pain was found to have an incidental appendiceal mass on cross-sectional imaging. He underwent a laparoscopic...
A 74-year-old man who presented with upper abdominal pain was found to have an incidental appendiceal mass on cross-sectional imaging. He underwent a laparoscopic appendicectomy with histopathological examination confirming a completely resected appendiceal gastrointestinal stromal tumour (GIST). Appendiceal GISTs are rare. Therefore, there is limited evidence to guide risk stratification and management with extrapolation of prognosis from data on GISTs at other sites. This paper highlights the rarity of these tumours and presents another case which correlates well with the existing but limited literature. There is a need to maintain a registry of this rare disease entity with the maintenance of longer-term follow-up data.
PubMed: 38846198
DOI: 10.7759/cureus.59780 -
Applied Microbiology and Biotechnology Jun 2024In addition to genetic mutations, biomechanical factors also affect the structures and functions of the tumors during tumor growth, including solid stress, interstitial... (Review)
Review
In addition to genetic mutations, biomechanical factors also affect the structures and functions of the tumors during tumor growth, including solid stress, interstitial fluid pressure, stiffness, and microarchitecture. Solid stress affects tumors by compressing cancer and stromal cells and deforming blood and lymphatic vessels which reduce supply of oxygen, nutrients and drug delivery, making resistant to treatment. Researchers simulate the stress by creating mechanical models both in vitro and in vivo. Cell models in vitro are divided into two dimensions (2D) and three dimensions (3D). 2D models are simple to operate but exert pressure on apical surface of the cells. 3D models, the multicellular tumor spheres, are more consistent with the actual pathological state in human body. However, the models are more difficult to establish compared with the 2D models. Besides, the procedure of the animal models in vivo is even more complex and tougher to operate. Then, researchers challenged to quantify the solid stress through some measurement methods. We compared the advantages and limitations of these models and methods, which may help to explore new therapeutic targets for normalizing the tumor's physical microenvironment. KEY POINTS: •This is the first review to conclude the mechanical models and measurement methods in tumors. •The merit and demerit of these models and methods are compared. •Insights into further models are discussed.
Topics: Humans; Neoplasms; Animals; Biomechanical Phenomena; Tumor Microenvironment; Models, Biological; Stress, Mechanical
PubMed: 38842572
DOI: 10.1007/s00253-024-13211-5 -
Computers in Biology and Medicine Jul 2024G-Quadruplex DNA (GQ-DNA) is one of the most important non-canonical nucleic acid structures. GQ-DNA forming sequences are present in different crucial genomic regions...
Investigating the preferential interaction between imatinib mesylate and VEGF G-quadruplex DNA as therapeutic strategies for cancer treatment: Biophysical and molecular modelling approaches.
G-Quadruplex DNA (GQ-DNA) is one of the most important non-canonical nucleic acid structures. GQ-DNA forming sequences are present in different crucial genomic regions and are abundant in promoter regions of several oncogenes. Therefore, GQ-DNA is an important target for anticancer drugs and hence binding interactions between GQ-DNA and small molecule ligands are of great importance. Since GQ-DNA is a highly polymorphic structure, it is important to identify ligand molecules which preferentially target a particular quadruplex sequence. In this present study, we have used a FDA approved drug called imatinib mesylate (ligand) which is a selective tyrosine kinase inhibitor, successfully used for the treatment of chronic myelogenous leukaemia, gastrointestinal stromal tumours. Different spectroscopic techniques as well as molecular docking investigations and molecular simulations have been used to explore the interaction between imatinib mesylate with VEGF GQ DNA structures along with duplex DNA, C-Myc, H-Telo GQ DNA. We found that imatinib mesylate shows preferential interaction towards VEGF GQ DNA compared to C-Myc, H-Telo GQ and duplex DNA. Imatinib mesylate seems to be an efficient ligand for VEGF GQ DNA, suggesting that it might be used to regulate the expression of genes in cancerous cells.
Topics: Imatinib Mesylate; G-Quadruplexes; Humans; Vascular Endothelial Growth Factor A; Molecular Docking Simulation; Antineoplastic Agents; Neoplasms; DNA
PubMed: 38838555
DOI: 10.1016/j.compbiomed.2024.108683 -
Lasers in Medical Science Jun 2024To investigate the swept-source optical coherence tomography (SS-OCT) and SS-OCT angiography (SS-OCTA) findings in circumscribed choroidal hemangioma (CCH) before and...
Swept-source optical coherence tomography and swept-source optical coherence tomography angiography findings in circumscribed choroidal hemangioma before and after transpupillary thermotherapy.
PURPOSE
To investigate the swept-source optical coherence tomography (SS-OCT) and SS-OCT angiography (SS-OCTA) findings in circumscribed choroidal hemangioma (CCH) before and after treatment with transpupillary thermotherapy (TTT).
METHODS
The clinical records of 21 eyes having CCH imaged with SS-OCT/SS-OCTA between September 2018 and December 2022 were evaluated.
RESULTS
SS-OCT examination in CCH showed dome-shaped appearance (100%), choroidal shadowing (100%), expansion of choroidal structures (100%), subretinal fluid (66.7%), intraretinal edema/schisis (33.3%), retinal pigment epithelium (RPE) atrophy (19.0%), hyperreflective dots (19.0%), and epiretinal membrane (4.8%). Internal arborizing tumor vessels showing hyperreflectivity were observed in the choriocapillaris slab on SS-OCTA in all eyes. In the deep capillary plexus (DCP), flow void changes were seen in 7 eyes with intraretinal schisis/cystoid macular edema. Four CCHs > 2 mm in thickness showed outer retinal involvement due to unmasking of flow in intratumoral vessels related to RPE atrophy. Following TTT/indocyanine green-enhanced TTT (ICG-TTT) of CCH, SS-OCT findings included total/partial resolution of subretinal fluid (57.1%), complete/partial regression of the tumor (52.4%), and RPE atrophy (33.3%). After treatment; loss of choriocapillaris, decrease in tumor vascularity together with increase in the fibrous component and flow void areas were detected on SS-OCTA.
CONCLUSIONS
SS-OCT/SS-OCTA are useful non-invasive tools for imaging the structural/vascular changes in CCHs managed with TTT or ICG-TTT. On SS-OCTA, hyporeflective spaces localizing to edema/schisis in the DCP and arborizing tumor vessels within a hyporeflective stromal background in the choriocapillaris slab were observed. After TTT/ICG-TTT, a decrease in tumor vessels and an increase in the fibrous component and flow-void areas inside the CCH were detected on SS-OCTA.
Topics: Humans; Tomography, Optical Coherence; Choroid Neoplasms; Female; Middle Aged; Male; Hemangioma; Adult; Hyperthermia, Induced; Aged; Fluorescein Angiography; Retrospective Studies; Choroid
PubMed: 38836959
DOI: 10.1007/s10103-024-04088-x -
Scientific Reports Jun 2024Breast Cancer is the most common cancer among women globally. Despite significant improvements in overall survival, many tumours are refractory to therapy and so novel...
Breast Cancer is the most common cancer among women globally. Despite significant improvements in overall survival, many tumours are refractory to therapy and so novel approaches are required to improve patient outcomes. We have evaluated patient-derived explants (PDEs) as a novel preclinical platform for breast cancer (BC) and implemented cutting-edge digital pathology and multi-immunofluorescent approaches for investigating biomarker changes in both tumour and stromal areas at endpoint. Short-term culture of intact fragments of BCs as PDEs retained an intact immune microenvironment, and tumour architecture was augmented by the inclusion of autologous serum in the culture media. Cell death/proliferation responses to FET chemotherapy in BC-PDEs correlated significantly with BC patient progression-free survival (p = 0.012 and p = 0.0041, respectively) and cell death responses to the HER2 antibody therapy trastuzumab correlated significantly with HER2 status (p = 0.018). These studies show that the PDE platform combined with digital pathology is a robust preclinical approach for informing clinical responses to chemotherapy and antibody-directed therapies in breast cancer. Furthermore, since BC-PDEs retain an intact tumour architecture over the short-term, they facilitate the preclinical testing of anti-cancer agents targeting the tumour microenvironment.
Topics: Humans; Breast Neoplasms; Female; Tumor Microenvironment; Trastuzumab; Receptor, ErbB-2; Cell Proliferation; Antineoplastic Agents; Middle Aged; Biomarkers, Tumor; Antineoplastic Agents, Immunological
PubMed: 38834809
DOI: 10.1038/s41598-024-63170-0 -
Annals of Oncology : Official Journal... Jul 2024Advancements in the field of precision medicine have prompted the European Society for Medical Oncology (ESMO) Precision Medicine Working Group to update the...
BACKGROUND
Advancements in the field of precision medicine have prompted the European Society for Medical Oncology (ESMO) Precision Medicine Working Group to update the recommendations for the use of tumour next-generation sequencing (NGS) for patients with advanced cancers in routine practice.
METHODS
The group discussed the clinical impact of tumour NGS in guiding treatment decision using the ESMO Scale for Clinical Actionability of molecular Targets (ESCAT) considering cost-effectiveness and accessibility.
RESULTS
As for 2020 recommendations, ESMO recommends running tumour NGS in advanced non-squamous non-small-cell lung cancer, prostate cancer, colorectal cancer, cholangiocarcinoma, and ovarian cancer. Moreover, it is recommended to carry out tumour NGS in clinical research centres and under specific circumstances discussed with patients. In this updated report, the consensus within the group has led to an expansion of the recommendations to encompass patients with advanced breast cancer and rare tumours such as gastrointestinal stromal tumours, sarcoma, thyroid cancer, and cancer of unknown primary. Finally, ESMO recommends carrying out tumour NGS to detect tumour-agnostic alterations in patients with metastatic cancers where access to matched therapies is available.
CONCLUSION
Tumour NGS is increasingly expanding its scope and application within oncology with the aim of enhancing the efficacy of precision medicine for patients with cancer.
Topics: Humans; High-Throughput Nucleotide Sequencing; Precision Medicine; Neoplasms; Medical Oncology; Europe
PubMed: 38834388
DOI: 10.1016/j.annonc.2024.04.005