-
Journal of Investigative Medicine High... 2024Rectal signet ring cell carcinoma represents a rare subtype of colorectal adenocarcinoma known for its aggressive biological nature and poor prognosis. Although the...
Rectal signet ring cell carcinoma represents a rare subtype of colorectal adenocarcinoma known for its aggressive biological nature and poor prognosis. Although the co-occurrence of colorectal carcinoma with other tumors has been reported, the uncommon phenomenon of tumor-to-tumor metastasis, first described in 1930, remains rare. The most frequent donor neoplasms are lung or breast carcinomas, whereas cerebral meningiomas have been reported to be the most frequent recipient neoplasms. Here we report a case of a typical lipomatous tumor harboring metastatic signet ring cell rectal carcinoma. It is about a 42-year-old man diagnosed with rectal signet ring cell carcinoma and treated with concurrent radiotherapy and chemotherapy followed by an anterior resection and manual coloanal anastomosis with a temporary ileostomy. During the surgery, an abdominal wall lipoma was discovered and excised. A histopathological examination revealed infiltration of the fibro adipose tissue by a mucinous adenocarcinoma with a contingent of signet ring cells. The patient died 12 months after adjuvant chemotherapy due to peritoneal progression. To the best of our understanding, this represents the initial documented instance of tumor-to-tumor metastasis from rectal signet cell carcinoma to a conventional nonvascular lipoma. Consequently, even if one of these tumors appears clinically and radiologically benign, it is prudent to entertain the prospect of tumor-to-tumor metastasis. Thus, a comprehensive pathologic study of both tumors is highly recommended.
Topics: Humans; Carcinoma, Signet Ring Cell; Male; Rectal Neoplasms; Adult; Fatal Outcome; Lipoma; Adenocarcinoma, Mucinous
PubMed: 38884543
DOI: 10.1177/23247096241261309 -
Behavioural Neurology 2024The most common and aggressive tumor is brain malignancy, which has a short life span in the fourth grade of the disease. As a result, the medical plan may be a crucial...
The most common and aggressive tumor is brain malignancy, which has a short life span in the fourth grade of the disease. As a result, the medical plan may be a crucial step toward improving the well-being of a patient. Both diagnosis and therapy are part of the medical plan. Brain tumors are commonly imaged with magnetic resonance imaging (MRI), positron emission tomography (PET), and computed tomography (CT). In this paper, multimodal fused imaging with classification and segmentation for brain tumors was proposed using the deep learning method. The MRI and CT brain tumor images of the same slices (308 slices of meningioma and sarcoma) are combined using three different types of pixel-level fusion methods. The presence/absence of a tumor is classified using the proposed Tumnet technique, and the tumor area is found accordingly. In the other case, Tumnet is also applied for single-modal MRI/CT (561 image slices) for classification. The proposed Tumnet was modeled with 5 convolutional layers, 3 pooling layers with ReLU activation function, and 3 fully connected layers. The first-order statistical fusion metrics for an average method of MRI-CT images are obtained as SSIM tissue at 83%, SSIM bone at 84%, accuracy at 90%, sensitivity at 96%, and specificity at 95%, and the second-order statistical fusion metrics are obtained as the standard deviation of fused images at 79% and entropy at 0.99. The entropy value confirms the presence of additional features in the fused image. The proposed Tumnet yields a sensitivity of 96%, an accuracy of 98%, a specificity of 99%, normalized values of the mean of 0.75, a standard deviation of 0.4, a variance of 0.16, and an entropy of 0.90.
Topics: Humans; Brain Neoplasms; Magnetic Resonance Imaging; Meningioma; Multimodal Imaging; Tomography, X-Ray Computed; Deep Learning; Sarcoma; Image Processing, Computer-Assisted; Brain; Neural Networks, Computer; Meningeal Neoplasms
PubMed: 38882177
DOI: 10.1155/2024/4678554 -
Zhurnal Voprosy Neirokhirurgii Imeni N.... 2024Meningiomas arising from accessory nerve sheath without dural attachment are rare. To date, only 5 cases are described in the literature. A 53-year-old male presented... (Review)
Review
Meningiomas arising from accessory nerve sheath without dural attachment are rare. To date, only 5 cases are described in the literature. A 53-year-old male presented with long history of occipital pain and headaches. Magnetic resonance imaging revealed a small intradural extramedullary contrast enhanced tumor at the level of foramen magnum. The patient underwent microsurgical resection through minimally invasive midline suboccipital approach. According to intraoperative findings, cystic tumor arose from the left accessory nerve without dural attachment. Gross total resection was achieved without damage to the nerve. Histological analysis revealed angiomatous meningioma. Postoperative period was uneventful without new neurological symptoms. Meningiomas can rarely arise from accessory nerve sheath and mimic schwannoma. These tumors may be totally resected without damage to accessory nerve using minimally invasive surgical approaches.
Topics: Humans; Male; Meningioma; Middle Aged; Meningeal Neoplasms; Magnetic Resonance Imaging; Cranial Nerve Neoplasms
PubMed: 38881021
DOI: 10.17116/neiro20248803190 -
NPJ Precision Oncology Jun 2024Neurofibromatosis type 2 (NF2) is a tumor suppressor gene implicated in various tumors, including mesothelioma, schwannomas, and meningioma. As a member of the ezrin,... (Review)
Review
Neurofibromatosis type 2 (NF2) is a tumor suppressor gene implicated in various tumors, including mesothelioma, schwannomas, and meningioma. As a member of the ezrin, radixin, and moesin (ERM) family of proteins, merlin, which is encoded by NF2, regulates diverse cellular events and signalling pathways, such as the Hippo, mTOR, RAS, and cGAS-STING pathways. However, the biological role of NF2 in tumorigenesis has not been fully elucidated. Furthermore, cross-cancer mutations may exert distinct biological effects on tumorigenesis and treatment response. In addition to the functional inactivation of NF2, the codeficiency of other genes, such as cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B), BRCA1-associated protein-1 (BAP1), and large tumor suppressor 2 (LATS2), results in unique tumor characteristics that should be considered in clinical treatment decisions. Notably, several recent studies have explored the metabolic and immunological features associated with NF2, offering potential insights into tumor biology and the development of innovative therapeutic strategies. In this review, we consolidate the current knowledge on NF2 and examine the potential connection between cancer metabolism and tumor immunity in merlin-deficient malignancies. This review may provide a deeper understanding of the biological roles of NF2 and guide possible therapeutic avenues.
PubMed: 38879686
DOI: 10.1038/s41698-024-00627-5 -
Nature Communications Jun 2024Neurofibromatosis Type II (NFII) is a genetic condition caused by loss of the NF2 gene, resulting in activation of the YAP/TAZ pathway and recurrent Schwann cell tumors,...
Neurofibromatosis Type II (NFII) is a genetic condition caused by loss of the NF2 gene, resulting in activation of the YAP/TAZ pathway and recurrent Schwann cell tumors, as well as meningiomas and ependymomas. Unfortunately, few pharmacological options are available for NFII. Here, we undertake a genome-wide CRISPR/Cas9 screen to search for synthetic-lethal genes that, when inhibited, cause death of NF2 mutant Schwann cells but not NF2 wildtype cells. We identify ACSL3 and G6PD as two synthetic-lethal partners for NF2, both involved in lipid biogenesis and cellular redox. We find that NF2 mutant Schwann cells are more oxidized than control cells, in part due to reduced expression of genes involved in NADPH generation such as ME1. Since G6PD and ME1 redundantly generate cytosolic NADPH, lack of either one is compatible with cell viability, but not down-regulation of both. Since genetic deficiency for G6PD is tolerated in the human population, G6PD could be a good pharmacological target for NFII.
Topics: Schwann Cells; Humans; CRISPR-Cas Systems; Glucosephosphate Dehydrogenase; Neurofibromin 2; Coenzyme A Ligases; Synthetic Lethal Mutations; Animals; Neurofibromatosis 2; NADP; Mice; Oxidation-Reduction
PubMed: 38879607
DOI: 10.1038/s41467-024-49298-7 -
Clinical Proteomics Jun 2024Gliomas are aggressive malignant tumors, with poor prognosis. There is an unmet need for the discovery of new, non-invasive biomarkers for differential diagnosis,...
BACKGROUND
Gliomas are aggressive malignant tumors, with poor prognosis. There is an unmet need for the discovery of new, non-invasive biomarkers for differential diagnosis, prognosis, and management of brain tumors. Our objective is to validate four plasma biomarkers - glial fibrillary acidic protein (GFAP), neurofilament light (NEFL), matrix metalloprotease 3 (MMP3) and fatty acid binding protein 4 (FABP4) - and compare them with established brain tumor molecular markers and survival.
METHODS
Our cohort consisted of patients with benign and malignant brain tumors (GBM = 77, Astrocytomas = 26, Oligodendrogliomas = 23, Secondary tumors = 35, Meningiomas = 70, Schwannomas = 15, Pituitary adenomas = 15, Normal individuals = 30). For measurements, we used ultrasensitive electrochemiluminescence multiplexed immunoassays.
RESULTS
High plasma GFAP concentration was associated with GBM, low GFAP and high FABP4 were associated with meningiomas, and low GFAP and low FABP4 were associated with astrocytomas and oligodendrogliomas. NEFL was associated with progression of disease. Several prognostic genetic alterations were significantly associated with all plasma biomarker levels. We found no independent associations between plasma GFAP, NEFL, FABP4 and MMP3, and overall survival. The candidate biomarkers could not reliably discriminate GBM from primary or secondary CNS lymphomas.
CONCLUSIONS
GFAP, NEFL, FABP4 and MMP3 are useful for differential diagnosis and prognosis, and are associated with molecular changes in gliomas.
PubMed: 38879494
DOI: 10.1186/s12014-024-09492-7 -
Clinical Neurology and Neurosurgery Jun 2024Surgery remains the first line treatment for meningiomas and can benefit from fluorescence-guided surgical techniques such as second-window indocyanine green (SWIG). In...
OBJECTIVE
Surgery remains the first line treatment for meningiomas and can benefit from fluorescence-guided surgical techniques such as second-window indocyanine green (SWIG). In the current study, we compared the use of the standard SWIG dose of 5.0 mg/kg relative to 2.5 mg/kg indocyanine green (ICG) in meningioma patients.
METHODS
Patients were prospectively enrolled in an IRB-approved study of SWIG and received either the standard dose of 5.0 mg/kg or a reduced dose of 2.5 mg/kg of ICG around 24 h prior to their surgery. Intraoperative near-infrared fluorescence imaging was performed with exo- and endoscopic systems. Signal-to-background ratio (SBR) was calculated to quantify fluorescence and was compared between 5.0 mg/kg and 2.5 mg/kg ICG. All patients received pre-operative MRI and, in select cases, the pre-operative MRI was correlated to intraoperative fluorescence imaging.
RESULTS/DISCUSSION
In the current study, we found no significant difference in the SBR of meningiomas in patients that were administered with either 5.0 mg/kg or 2.5 mg/kg ICG. However, in five patients that received the standard-dose SWIG regimen of 5.0 mg/kg ICG we observed dose-related fluorescence quenching - referred to as "inversion" - that interfered with tumor visualization during fluorescence-guided surgery (FGS). When correlated to pre-operative MRI, a similar rim pattern was observed around the primary tumor on T FLAIR, which, in retrospect, could be used as a predictor for inversion during FGS in meningioma patients receiving standard-dose ICG.
CONCLUSION
This study demonstrated that a reduced ICG dose was as effective as standard-dose SWIG in meningioma patients. We therefore recommend to adjust the standard ICG dose for meningioma patients to 2.5 mg/kg particularly when rim enhancement is observed on pre-operative T FLAIR.
PubMed: 38878642
DOI: 10.1016/j.clineuro.2024.108385 -
Acta Neuropathologica Communications Jun 2024
PubMed: 38877580
DOI: 10.1186/s40478-024-01801-3 -
Asian Journal of Surgery Jun 2024
PubMed: 38876876
DOI: 10.1016/j.asjsur.2024.05.285 -
Journal of Neurosurgery Jun 2024The endoscopic transorbital approach (ETOA) has been demonstrated to be a feasible ventral route to the petrous apex. Yet, it has been pointed to as a deep and narrow...
OBJECTIVE
The endoscopic transorbital approach (ETOA) has been demonstrated to be a feasible ventral route to the petrous apex. Yet, it has been pointed to as a deep and narrow corridor for anterior petrosectomy; particularly, medialization of the instruments can become an issue when targeting the petroclival area. To overcome this limitation, an ETOA with orbital rim removal (ETOA-OR) has been suggested, but not de facto compared, with a transorbital approach without removal of the rim. This addition could augment the surgical exposure and freedom of movement when accessing the petrous apex area.
METHODS
Five human cadaveric heads (10 sides) were dissected. First, anterior petrosectomy was performed via a conventional ETOA (without orbital rim removal). Second, en bloc removal of the orbital rim was performed, with enlargement of the orbital craniectomy and, subsequently, further drilling of the medial petrous apex. Qualitative and quantitative comparisons are provided. An illustrative surgical case is also shown.
RESULTS
The transorbital route allowed the authors to perform an anterior petrosectomy in all specimens. The landmarks of bone removal are superposed onto those in the transcranial route. The ETOA-OR increased the volume of craniectomy (from 4.0 mL to 5.5 mL), the lateromedial angulation, and superoinferior angulation of the instruments within the petrous area. Thus, this approach improved the exposure of the medial petroclival area, allowing for an augmented petrosectomy (from 1.4 mL to 2.0 mL, 39.5% increase) and for increased maneuverability, both in the petrous area (from 44.1 cm2 to 76.5 cm2, 73.3% increase) and in the posterior fossa (from 20.2 cm2 to 52.0 cm2, 158% increase). The ETOA-OR was also pragmatically applied to treat a recurrent petroclival meningioma. Complete removal was achieved, the abducens nerve palsy improved, and the trigeminal neuralgia decreased in severity, yet still required medication.
CONCLUSIONS
The authors provide the first formal anatomical comparison between the transorbital approach with preservation of the orbital rim and a transorbital approach with removal of the rim to access the petrous apex. In addition, an illustrative case is used as a proof of concept and feasibility. According to the authors' data, the ETOA-OR significantly improves surgical exposure and the surgeon's comfort in this deep region. The bony defect can be reconstructed to avoid cosmetic deformities, maintaining the minimally disruptive concept of transorbital surgery.
PubMed: 38875727
DOI: 10.3171/2024.3.JNS232834