Anatomical Origin Research Articles

Biphenotypic Sinonasal Sarcoma: Literature Review of a Peculiar Pathological Entity—The Neurosurgical Point of View

Background: Biphenotypic sinonasal sarcoma (BSNS) is a low-grade tumor of the sinonasal tract with frequent extension to the orbit and skull base. Due to its rare incidence and recent histopathological and molecular characterization, little data are available in regard to its natural history, treatment and surveillance protocol. Methods: A comprehensive literature review in Embase online electronic databases on BSNS was made. The analyzed factors included the patients’ sex and age, presenting symptoms and signs, anatomical origin and pattern of growth of the tumor, immunohistochemical and molecular features, time to treatment, type of treatment, surgical approach, extent of resection, peri- and post-operative complications, adjuvant therapies, clinical outcome, recurrence and overall survival rates. Results: This literature review involved 34 studies for an overall series of 149 cases of BSNS. The female (66.9%) and middle-aged populations (median 54.88 years old) were mainly affected. The most frequent clinical onset was nasal obstruction (81%), followed by facial discomfort (44%), epistaxis (15.5%) and ocular impairment (14.3%). Ethmoid sinus (67.8%) and nasal cavity (45.4%) were the most common anatomical site of tumor origin, while an extension to the orbit and skull base was registered in 28.7% and 24.5% of cases. Surgery was the main treatment, especially in the form of endoscopic endonasal approach (56.9%), and allowed for gross total resection in 79% of cases. The recurrence rate was 26.2%; three cases of tumor-related death were reported. Median follow-up was 4.6 years. Conclusions: Biphenotypic sinonasal sarcoma is a rare and unique tumoral entity in terms of biological and clinical behavior. Based on the current knowledge, surgery plays the leading role in treatment, accounting for gross total tumor resection in most cases, allowing for clinical symptom and sign resolution and presenting a low rate of perioperative complications. The type of approach and the aim of surgery should be assessed case by case according to patient and pathology features and the surgeon’s experience, as well as the aim of the treatment. Further studies including large surgical series and with long follow-up are required to define prognostic factors and guidelines of treatment for this peculiar pathological entity.

On the Origin of Abdominal Venous Leiomyosarcomas: The Role of the Sex-Hormone Drainage Pathways.

We hypothesized that abdominal venous leiomyosarcoma (AV-LMS) disproportionately originates in veins of the sex-hormone drainage pathway (SHDP). Our purpose was to classify the anatomical origin of AV-LMS in a large cohort using imaging and explore prognostic implications. A retrospective review of imaging of all patients presenting with abdominal non-uterine LMS at a single tertiary oncology center was performed. Inclusion criteria were a biopsy-proven LMS of non-uterine abdominal/pelvic origin with pretreatment enhanced computed tomography (CT)/magnetic resonance imaging (MRI). Patients with uterine LMS or prior radiation were excluded. LMS site of origin was assigned by one expert radiologist and indeterminate sites were reviewed with a second external expert radiologist. Locations of inferior vena cava (IVC) tumors were subclassified based on a modification of prior literature. SHDP was defined as originating from ovarian/testicular vein, distal left renal vein, adrenal vein or mid-IVC (IIA). One hundred fifty-five (155) patients were included (92/152 (61%) female) with distant metastases found at presentation in 23/155 (14.8%). Most common organs of origins were veins (84/152, 55.3%), gastrointestinal (24, 15.8%), genital (11, 7.2%) and paratesticular/spermatic cord (11, 7.2%). For venous LMS, the adrenal (both sexes), mid-IVC (IVC IIA, females) and ovarian veins had the highest relative predilection for abdominal non-uterine LMS. Eighty-four (84/152, 55.3%) of tumors were SHDP. On multivariable analysis, both size and SHDP were significant predictors of distant metastases at presentation (P = 0.01), while sex, age, organ system/site and grade were not. For both sexes, tumors arising from SHDP constitute the majority of AV-LMS and may impart a significantly lower risk of metastatic disease at presentation. Among veins, the adrenal veins had the highest predilection for LMS.

Biphenotypic Sinonasal Sarcoma with Orbital Invasion: A Literature Review and Modular System of Surgical Approaches.

Background: Biphenotypic sinonasal sarcoma is a rare low-grade tumor arising from the sinonasal tract, featuring locally aggressive biological behavior, with a tendency to invade the orbit and skull base. There are no defined guidelines of treatment; thus, the management varies among different institutions. The aim of the present study is to provide a modular system of surgical approaches according to the lesion pattern of growth from a literature review. Materials and Methods: A comprehensive and detailed literature review on the PubMed and Embase online electronic databases on biphenotypic sinonasal sarcoma with orbital invasion was conducted. A personal case exhibiting peculiar features was also added. Demographic (patient's sex and age), clinical (presenting symptoms and time to treatment), neuroradiological (anatomical origin and pattern of growth), and treatment (type of treatment, surgical approach, extent of resection, peri- and postoperative complications, and adjuvant therapies) data, as well as clinical outcome, recurrence rates, and overall survival, were analyzed. Results: Thirty-one patients harboring biphenotypic sinonasal sarcoma with orbital invasion were identified. Tumors mainly affected female patients (66.7%) and a middle-aged population (median 55.2 years old). Simultaneous skull base involvement occurred in most cases (80.6%). Surgery was performed in all but one case (97%), as unique treatment (59%) or in association with radio-(23.5%) and/or chemotherapy (5.9%/2.9%), allowing for gross total tumor resection in most cases (66.7%). The endoscopic endonasal approach was the most adopted surgical corridor (51.7%). The local recurrence rate was 19.3%, and only two cases of tumor-related mortality occurred. Conclusions: Surgery is the only curative treatment, with the main goal to restore/improve/arrest progression of clinical manifestations. The endoscopic endonasal route represents the master approach for lesions confined to the midline. Microsurgical transcranial and endoscopic transorbital approaches have a complementary role for addressing the lesion's component with large intracranial extension or affecting the paramedian aspect of the anterior cranial fossa and superior-lateral orbital compartment, respectively. The approach selection should be made case by case according to the tumor pattern of growth.

Recent Advances and Future Perspectives in Radiolabeled Antibody Fragments for Breast Cancer Molecular Imaging

Breast Cancer (BC) is the leading cause of cancer-related deaths in women and the most common cancer worldwide. It is classified based on its anatomical origin, the presence of Human Epidermal Growth Factor Receptor 2 (HER-2), and the presence of Estrogen Receptor (ER) and/or Progesterone Receptor (PR). Around 20% of breast cancers are HER-2 positive. While biopsy-based diagnoses are valuable in clinical settings, they have limitations in terms of sampling and interpretation. However, laboratory tests such as Immunohistochemistry (IHC) or Fluorescence In Situ Hybridization (FISH) are also limited, including being time-consuming, expensive, and requiring specialized equipment. Ongoing research and technological advancements aim to address the challenges associated with biopsy-based diagnoses and laboratory tests to develop more accurate and efficient methods for assessing HER-2 status. To this end, various radioactively labeled proteins and small compounds, such as single-chain variable Fragments (scFv), F(ab')2, affibody, and nanobody, have been developed to target HER-2 using molecular array techniques. These smaller targeted compounds offer improved image quality, shorter circulating half-life, and reduced immunogenicity compared to their larger counterparts. This is due to their better biodistribution, clearance, and stability. This study investigates the current understanding and ongoing efforts in utilizing antibody fragments for molecular imaging. The specific objectives were to evaluate the advantages of antibody fragments over full-length antibodies regarding biodistribution, clearance, and stability. Additionally, this study aims to assess the current knowledge and ongoing research in utilizing antibody fragments for molecular imaging.

Peri-Ampullary Tumour; An Unusual Cause of Upper Gastrointestinal Bleeding

Periampullary tumors are cancers that arise in the region of the around the ampulla of Vater, where the bile duct and pancreatic duct converge and empty into the small intestine. This region is very critical for digestive enzyme and bile secretions. This may be associated with slow disease progression, age related changes delayed onset of symptoms and lack of screening and diagnostic facilities. These tumours can be challenging to diagnose and manage due to their proximity to several vital structures. Upper gastrointestinal bleeding may be a rare clinical presentation following tumoral ulceration, erosion into blood vessels or nearby structures or secondary complications like pancreatitis or portal hypertension. Identifying the anatomical origin of these malignancies is usually a herculean task. This will require prompt oesophagogastroduodenoscopy and imaging to determine the source and appropriate management. This is especially true given the region's transitional character, closeness to various structures, and overlapping features among them. We present periampullary tumour an unusual cause of upper gastrointestinal bleeding in a resource limited setting. A52 year old Nigerian male was admitted at the Usmanu Danfodiyo University Teaching Hospital, Sokoto for evaluation following a 3 months history of progressive weight loss, generalized body weakness and a burning and occasionally colicky, persistent, non-radiating epigastric pain, loss of appetite, easy fatiguability, occasional dizziness and recurrent non-projectile post-prandial non-billous vomiting. Though he had no hematemesis, he had history of passage of malaena. The patient was fully conscious on admission, pale, wasted with a markedly tender epigstric region. He was tachycardic with a minimal elevation in blood pressure level of 138/94mmHg. He had an international normalized ratio (INR) of 1.0. Oesophagogastroduodenoscopy was performed which showed a polypoid fungating mass at the1st extending to the 2nd part of the duodenum. A Computerized Tomogram scan of the abdomen showed a diffuse circumferential duodenal wall thickening of 1st and 2nd parts (more in 2nd part) with reduction in luminal calibre of duodenum and mildly dilated pancreatic, common bile, common hepatic ducts. Multiple biopsies were taken for histology which showed moderately differentiated aadenocarcinoma. Surface epithelium composed of columnar epithelial cells which can be seen in the top right of the image below with an invasive tumour, seen infiltrating the lamina propria in the lower left. He went on to have an exploratory laparotomy with triple bypass involving a side to side gastrojejunal anastomosis and cholecystojejunostomy and entero-enterotomy folowing which he went on to receive chemotherapy. As of the time of this write up the patient has recuperated well following his treatment.

Multi-omics analysis of SIV-specific CD8+ T cells in multiple anatomical sites.

CD8+ T cells exert immunological pressure against immunodeficiency lentiviruses. In previous studies, we examined the TCR repertoire of CD8+ T cells specific for a single SIV immunodominant epitope, Gag-CM9, throughout SIV infection or after vaccination, and across multiple anatomic sites. We identified both tissue specific TCR sequences and TCRs shared by multiple anatomical sites. Here we use single cell RNA sequencing to evaluate if the tissue localization or TCR sequence of a CM9-specific CD8+ T cell corresponds with unique transcriptomics. CM9-specific CD8+ T cells were sorted from blood, lymph nodes, spleen, and liver from SIV infected rhesus macaques with progressive SIV infection and in animals who spontaneously control SIV replication after cessation of antiretroviral therapy. The cells were processed through a single cell sequencing protocol, creating a TCR amplified library and an RNA gene expression library corresponding to individual cells. Gene set enrichment analysis revealed no distinct transcriptional profiles for CM9 specific CD8+ T cells between different anatomical sites and between cells with shared or tissue specific TCRs. Similarly, no clear transcriptional profiles were associated with clonotypes which were shared across individual animals. However, CM9 specific CD8+ T cells from posttreatment controllers did exhibit enrichment of pathways associated with cellular activation compared to progressively infected animals, suggesting that altered transcription in distinct cellular pathways in antigen specific CD8+ T cells may associate with viral control. Together, these studies represent a thorough analysis of the relationship between anatomical and clonal origin, and the transcriptional profile of antigen specific CD8+ T cells and unravel pathways that may be important for CD8+ T cell mediated control of SIV replication.

Spatial Distribution of Meningiomas: A Magnetic Resonance Image Atlas.

The size and anatomic location of meningiomas have been shown to correlate with distinct clinical manifestations, histopathological subtypes, and surgical risk. However, meningioma anatomic origin sites can be obscured in large tumors and those crossing compartments. We therefore sought to apply unbiased lesion mapping to localize intracranial meningioma distributions and their association with biology and grade. MRI scans, World Health Organization (WHO) grade, and a molecularly Integrated Grade (IG) derived from cytogenetics were analyzed from adult patients with intracranial meningiomas. Semi-automated tumor segmentation was performed on T1-weighted contrast-enhanced MRI. We used the voxel-based lesion mapping technique to generate a meningioma atlas, mapping spatial frequency and correlating with tumor grades. Of 881 patients with meningioma (median age: 57 years, 68.8% female), 589 were WHO grade 1 (66.8%), 265 WHO grade 2 (30.1%), and 27 WHO grade 3 (3.1%) with a median tumor volume of 14.6 cm3. After molecular reclassification, 585 were IG-1 (66.4%), 160 IG-2 (18.2%), and 136 IG-3 (15.4%). Benign tumors were concentrated in and around the midline anterior skull base while malignant meningiomas were enriched in the falcine/parasagittal region and the sphenoid wing, similar to the distribution when stratified by chromosome 1p loss. Meningiomas exhibited sharper spatial clustering when stratified by the molecular IG than by WHO grade. WHO grade 2 meningiomas divided equally across IG 1-3, with corresponding partition of spatial distribution in the midline anterior skull base (in WHO grade 2, IG-1) and falcine/parasagittal and sphenoid regions (WHO grade 2, IG-3). Meningioma volumes significantly varied across age, sex, and WHO/IG grades. We demonstrate the utility of voxel-based lesion mapping for intracranial tumors, characterizing distinct meningioma distribution patterns across histopathological and molecularly defined grades. Molecular grading associated with sharper tumor spatial clusters, supporting a phenotype-genotype association in meningiomas.

A retrospective study: Long term prognosis in adults with PA-VSD-MAPCAs

BackgroundPulmonary Atresia, Ventricular Deptal Defect, and Major Aortopulmonary Collateral Arteries (PA-VSD-MAPCAs) is a congenital cyanotic heart defect with poor prognosis. Due to its complex and highly variable anatomy, the best treatment plan is not clear. We aimed (1) to investigate the survival of PA-VSD-MAPCAs patients according to the underlying original anatomy and treatment strategy, and (2) to evaluate life expectancy between patients with or without severe hypoplastic native pulmonary arteries (NPAs) after surgical versus non-surgical treatment. MethodsA prospectively established database of 169 PA-VSD-MAPCAs patients treated and followed up at University Hospitals Leuven was accessed. Patients were divided into three groups according to the treatment strategy. Kaplan-Meier survival curves were plotted, and Log Rank tests were used for comparison. ResultsThe overall mean survival for patients with PA-VSD-MAPCAs was 38.5 years (95%-CI: 33.1–43.9). Patients with complete intracardiac repair had the longest mean survival of 43.8 years (95%-CI: 38.1–49.6) versus the other groups (p < 0.001). A longer mean event-free survival time was found in patients with normal, well-developed NPAs (p = 0.047). Finally, patients with poorly developed or absent NPAs had worse survival rates when a surgical approach was followed. Systemic-pulmonary shunt placement or unifocalisation had limited effect on prognosis in the absence of total repair (p = 0.167). ConclusionsPatients with PA-VSD-MAPCAs who underwent complete intracardiac repair and/or with well-developed native pulmonary arteries had the best prognosis. Our analyzed data suggest that incomplete surgical repair resulted in survival rates comparable to those seen with a non-surgical approach.

Unveiling Commonalities: Exploring Shared Characteristics in Clear-Cell Carcinomas of the Gynecologic Tract.

Clear-cell carcinomas (CCC) arising from the gynecologic tract (including from the ovary, endometrium, cervix, vulva, or vagina) represent rare but clinically significant entities with intriguing overlapping characteristics. Epidemiologically, CCCs exhibit a predilection for women of Asian ethnicity and are often associated with a previous or synchronous diagnosis of endometriosis. Pathologically, despite originating from different primary organs, CCCs of the gynecologic tract show similar morphologic and immunophenotypic features on traditional histopathology, such as the expression of napsin A and hepatocyte nuclear factor 1β on IHC, without the expression of Wilms tumor 1. Well-described molecular characteristics of these cancers include recurrent mutations in genes such as ARID1A, PIK3CA, and/or PTEN, although significant variations exist across the different anatomic sites. Therapeutically, optimal management remains challenging due to the relative rarity of CCCs and limited subtype-specific clinical trials. Surgery remains the cornerstone of treatment, often complemented by systemic chemotherapy. However, promising drugs targeting angiogenesis or the immune microenvironment have emerged in recent years, leading to clinical successes, and are likely to reshape the therapeutic landscape of gynecologic CCC. This review summarizes the commonalities and disparities in terms of epidemiology, pathology, molecular features, and therapeutic approach, among CCCs of different anatomic origin, offering a foundation for further research and dedicated therapeutic interventions for these malignancies.

Optimizing Aesthetic Outcomes after Retroglandular Breast Implant Explantation.

The safety of silicone breast implants has been questioned due to concerns such as the risk of associated lymphoma, as well as rheumatological and systemic symptoms. This has resulted in an increased demand for explantation, posing the challenge of addressing stigmas related to implant removal. There is a dearth of literature on techniques for restoring breast contour postexplantation. After implant removal, the original breast anatomy is altered, and depressed areas may manifest in random locations. To reposition the breast tissue displaced by the implant, we enlarge the retroglandular pocket and subsequently use sutures for centripetal traction, relocating the tissue back to the footprint area but now in an improved position, delineating the breast contour. This maneuver enables us to restore the breast contour to an anatomical condition akin to preimplantation; diminish the final explantation defect, creating a more suitable pocket for delicate mastopexy flaps; recruit breast tissue, allowing internal sutures to conceal tissue irregularities; and redesign the breast contour area on the chest to achieve better symmetry.

DENTAL REHABILITATION BY THE OCCLUSAL MATRIX TECHNIQUE USING PROVISIONAL RESTORATOR: Case report of a pediatric patient from the city of Mato Verde - MG

The occlusal matrix technique allows the recording of anatomical details of the remaining tooth structure before starting cavity preparation, enabling the reestablishment of the original tooth morphology by means of an occlusal matrix. The objective of this study was to report a clinical case of dental rehabilitation by the occlusal matrix technique using a temporary restorative in pediatric dentistry. This research is an observational descriptive study (committee, nº 6.906.292). The work was conducted in the city of Mato Verde, Minas Gerais, at Faculdade Verde Norte (FAVENORTE). A 7-year-old female patient, together with her guardian, attended the FAVENORTE Dentistry clinic for dental care, complaining that her tooth had some “dark spots”. During the clinical examination, it was observed that tooth 46 had an active carious lesion on the occlusal surface in a region of pits and fissures with shadowing in the underlying dentin (ICDAS – Score 4), but with relatively intact occlusal anatomy. Interproximal radiographic examination showed that the carious lesion was in the dentin, but not close to the pulp. Due to the preservation of the occlusal anatomy of the tooth, the proposed treatment for the patient was the use of the occlusal matrix technique, selective removal of carious tissue, and restoration with composite resin, aiming to restore form and function. The occlusal matrix technique has proven to be an effective and efficient approach in the rehabilitation of carious lesions on occlusal surfaces, especially in pediatric patients. The technique allowed the faithful reproduction of the original anatomy of the tooth, which is essential for the maintenance of masticatory function, esthetics and occlusal integrity.

Polarization-resolved analysis of outer retinal bands: investigating ballistic and multiply scattered photons using full-field swept-source optical coherence tomography.

Precise interpretation of the anatomical origins of outer retinal optical coherence tomography (OCT) presents technical challenges owing to the delicate nature of the retina. To address this challenge, our study introduces a novel polarization-sensitive full-field swept-source OCT (FF-SS-OCT) that provides parallel-polarization and cross-polarization OCT measurements, predominantly capturing ballistically reflected photons and multiply scattered photons, respectively. Notably, parallel-polarization OCT unveils layer-like structures more effectively, including the inner plexiform layer (IPL) sub-layers, outer plexiform layer (OPL) sub-layers (in rod-dominant regions), and rod/cone outer segment (OS) tips, compared to cross-polarization OCT, where such sub-layers are not visible. Through a comparative analysis of parallel-polarization and cross-polarization OCT images of the outer retina, we discovered that the 2nd outer retinal OCT band results from contributions from both the ellipsoid zone (EZ) and the inner segment/outer segment (IS/OS) junction. Similarly, the 3rd outer retinal OCT band appears to reflect contributions from both the interdigitation zone (IZ) and photoreceptor OS tips. This polarization-sensitive approach advances our understanding of the origins of outer retinal OCT signals and proposes potential new biomarkers for assessing retinal health and diseases.

The Neural Representation of Binaural Sound Localization Cues Across Different Subregions of the Chicken's Inferior Colliculus.

The sound localization behavior of the nocturnally hunting barn owl and its underlying neural computations is a textbook example of neuroethology. Differences in sound timing and level at the two ears are integrated in a series of well-characterized steps, from brainstem to inferior colliculus (IC), resulting in a topographical neural representation of auditory space. It remains an important question of brain evolution: How is this specialized case derived from a more plesiomorphic pattern? The present study is the first to match physiology and anatomical subregions in the non-owl avian IC. Single-unit responses in the chicken IC were tested for selectivity to different frequencies and to the binaural difference cues. Their anatomical origin was reconstructed with the help of electrolytic lesions and immunohistochemical identification of different subregions of the IC, based on previous characterizations in owl and chicken. In contrast to barn owl, there was no distinct differentiation of responses in the different subregions. We found neural topographies for both binaural cues but no evidence for a coherent representation of auditory space. The results are consistent with previous work in pigeon IC and chicken higher-order midbrain and suggest a plesiomorphic condition of multisensory integration in the midbrain that is dominated by lateral panoramic vision.

Cavernous Malformation From Cranial Nerves: A Systematic Review With a Novel Classification and Patient-Level Analysis.

Cavernous malformations (CMs) occurring in the cranial nerve (CN) are extremely rare, and there is currently no comprehensive review on CN CMs, leading to a lack of sufficient understanding of CN CMs. We aimed to systematically review all published CN CM cases; summarize the epidemiology, clinical manifestations, treatment, and prognosis of CN CMs; and identify factors influencing the prognosis of CN CMs. This systematic review identified all cases potentially diagnosed with CN CM through a systematic search of PubMed, SCOPUS, Web of Science, and Cochrane databases. This represents the most comprehensive systematic review to date. We classified CN CMs based on their anatomic origins. Patient characteristics, disease manifestations, treatment approaches, and prognosis were summarized descriptively. Further analysis was conducted to identify factors influencing the prognosis of CN CMs. The final analysis included 108 articles (127 individual patient cases). The optic nerve (49/128, 38.3%) is the most commonly affected nerve. Notably, CN CMs can be categorized into 3 types: Intraneural, Perineural, and Extraneural. Preoperative nerve function status and novel classification were associated with the prognosis of CN CMs (P = .001; P < .001). The postoperative neurological deterioration rate for the Intraneural type was 19/37 (51.4%); for the Extraneural type, it was 13/69 (18.8%); and for the Perineural type, it was 1/22 (4.5%) (P < .001). We reviewed all the published CN CMs to date, offering a comprehensive description of CN CMs for the first time and identifying prognostic factors. The classification of CN CMs proposed in this study could serve as guidance for the selection of intraoperative treatment regimens. The findings of this systematic review are expected to provide a foundation for clinical decision-making in this crucial rare disease and lay the groundwork for developing relevant clinical guidelines.

A prospective observational study on magnetic resonance imaging (MRI) based evaluation of pelvic masses in females in tertiary care hospital in central India

Background Pelvic masses in females often present a diagnostic challenge, necessitating accurate detection and characterization for appropriate clinical management. Magnetic Resonance Imaging (MRI) has emerged as a valuable tool in pelvic mass evaluation, offering superior soft tissue contrast and multiplanar imaging capabilities. This prospective observational study aims to assess the diagnostic accuracy of pelvic MRI, determine anatomic origin, classify masses, estimate local spread, and evaluate the impact of gadolinium contrast in a tertiary care hospital in Central India. Methods The study will be conducted over a two-year period, enrolling female patients with lower back pain and clinical suspicion or inconclusive ultrasonographic findings of pelvic masses. A systematic approach to participant identification, recruitment, and engagement will be employed, with both verbal and written informed consent obtained. The imaging protocol will involve T1 and T2 weighted images, and gadolinium contrast administration when necessary. Data collection will encompass demographic information, medical history, clinical details, and MRI findings. Statistical analyses, including sensitivity, specificity, prevalence estimates, and regression analyses, will be performed to evaluate the diagnostic accuracy of pelvic MRI. Expected outcome We anticipate that pelvic MRI will exhibit high diagnostic accuracy in detecting and characterizing pelvic masses, providing valuable information on anatomic origin and pelvic compartment localization. The study aims to contribute evidence on the impact of gadolinium contrast in enhancing diagnostic capabilities. The findings are expected to optimize clinical decision-making for effective management of females with pelvic masses, leading to timely interventions and improved patient outcomes.

Iliotibial Band Origin Tendinopathy Is an Underrecognized Cause of Anterolateral Hip Pain: A Narrative Review and Clinical Commentary.

Hip pain is a common concern among athletes. With gluteal tendinopathy, femoroacetabular impingement, and osteoarthritis predominating sports medicine and musculoskeletal practices, less common etiologies may be overlooked. Complex pelvic anatomy and variable pain referral patterns may make identifying an accurate diagnosis challenging. Employing a systematic approach to evaluation and having a thorough understanding of hip region anatomy are essential. A potentially overlooked cause of anterolateral hip pain is iliotibial band origin tendinopathy. Patients often present with pain around the anterolateral hip and tenderness to palpation at the anterolateral iliac crest. While patients with iliotibial band origin tendinopathy usually respond to nonsurgical intervention, there is little literature to guide evaluation and treatment, highlighting a gap in the recognition of this condition. The purpose of this narrative review is to describe the anatomy of the proximal iliotibial band origin, outline the clinical diagnosis and imaging findings of ITBOT, and summarize current treatment options.

Schwannomas: Experience from a single center reference in Peru.

e14043 Background: Schwannomas are nerve sheath tumors that originate in Schwann cells. They are usually solitary and sporadic and manifest on peripheral, spinal or cranial nerves. It is the most common type of benign peripheral nerve tumor in adults. These tumors represent a diagnostic challenge due to their rarity and difficult differential diagnosis. Our objective was to determine the clinical and pathological characteristics, as well as the therapeutic management of patients with Schwannoma admitted to our institution over a period of time. Methods: A retrospective, cross-sectional and descriptive study was carried out on the cases of patients with Schwannoma over 14 years of age, diagnosed at the National Institute of Neoplastic Diseases from 2009 to 2023. Medical records and pathology reports were reviewed. Results: A total of 225 patients were diagnosed with schwannoma on anatomopathology. Median age was 44 years, with a range of 15 to 92 years. 135 (60%) patients were female and 90 (40%) male, with a ratio of 1.5:1. 19 (8.4%) patients had a second cancer before or after the diagnosis of schwannoma. 6 (2.66%) patients were previously diagnosed with neurofibromatosis. According to anatomical origin: 27 (12%) patients had schwanommas of the abdominal region, 36 (16%) of the head and neck, 42 (18.66%) of the spinal cord, 17 (7.55%) of the extremities, 83 ( 36.88%) of the intracranial region and 20 (8.88%) of the thorax. At the intracranial level, 71 patients had location at the cerebellopontine angle, 5 at the orbital level, 2 at the level of the cerebellum and 5 in another location. At the abdominal level, 13 patients had a retroperitoneal location, 8 at the gastric level, 2 at the renal level and 4 in another location. In 130 patients we can obtain the ki67, median score was 2% (1-50%). Regarding treatment, 156 (69.33%) patients underwent surgery, and 42 (18.66%) patients received radiation treatment. During their follow-up, only 5 (2.22%) patients had local recurrence. Conclusions: Schwannomas are rare benign tumors. In many cases, its suspected diagnosis is difficult due to its similarity to other tumors that must be part of the differential diagnosis. Its treatment is surgical, with the objective of complete macroscopic resection. Radiotherapy is a complementary treatment in case of residual disease.

A machine learning algorithm based on multi-omics biomarkers for the detection of tumor microsatellite instability.

1554 Background: Microsatellite instability (MSI) occurs via defects in mismatch repair (MMR) and is characterized by high tumor mutational burden (TMB) and a robust inflammatory response. Accurate MSI-high classification of immune-evasive tumors is vital due to the effectiveness of immune checkpoint inhibitor (ICI) therapy, such as pembrolizumab, which is FDA approved for all MSI-high tumors irrespective of anatomic origin. Detection methods of MSI-status vary widely, including immunohistochemistry (IHC), polymerase chain reaction (PCR), and next-generation sequencing (NGS). We developed a machine learning (ML) model to predict MSI status in patients with solid tumors using comprehensive genomic and immune profiling (CGIP), independent of direct sequencing data from microsatellite sites. Methods: We analyzed samples from 1,838 patients with colorectal cancer (CRC) by CGIP, which included DNA panel testing (523 genes) for pathogenic single nucleotide variants (pSNV) and determination of TMB (mut/Mb), and RNA sequencing (397 genes) for gene expression (GEX). The Boruta algorithm was used to select key genomic and GEX changes associated with MSI status. A distributed gradient boosting algorithm created a predictive model that was trained on 70% of the cohort. The model was tested on the remaining CRC cohort (Test), and in the PanCancer Atlas CRCs (TCGA), endometrial adenocarcinomas (EMCA), and CRC with indeterminate MSI testing by CGIP. Performance of the trained model was assessed using sensitivity, specificity, and positive (PPV) and negative (NPV) predictive value. Results: Feature selection identified 79 genes with pSNVs, 63 GEX changes, and TMB as informative for MSI prediction. The model showed high predictive accuracy in differentiating MSI-H tumors. Of the 39 cases that failed MSI component of CGIP (Indeterminate), 17 had MMR IHC results available, of which 1 demonstrated loss of MLH1/PMS2 and the other 16 showed intact (normal) expression. Testing of this cohort identified 3 cases as MSI-high, at least one of which was confirmed by IHC. No cases with intact MMR protein IHC were identified as MSI-high by the algorithm. Conclusions: Our ML-driven approach accurately assessed MSI status of CRC and EMCA using CGIP data. This approach also identified potential cases with MSI-high status where direct sequencing of microsatellites failed. This study highlights a method to identify patients with potential MSI-high status for orthogonal screening with the MSI component of a test fails. [Table: see text]

Immune phenotype profiling based on anatomic origin of melanoma and impact on clinical outcomes of immune checkpoint inhibitor treatment.

9569 Background: The inflamed immune phenotype is associated with a favorable response to immunotherapy in metastatic malignant melanoma. Although variations in molecular features across melanoma subtypes and differing ethnic distributions have been well reported, studies investigating immune phenotypes across multiple institutions within the context of different melanoma subtypes are scarce. We examined the association of immune phenotypes with outcomes after immunotherapy, based on subtypes of malignant melanoma. Methods: Two institutional advanced melanoma cohortsrepresenting Asian and Western populations (YUHS, n = 123; Stanford University, n = 102) were included. H&amp;E-stained tumor slides were assessed using Lunit SCOPE IO, an AI-powered whole slide image analyzer, to define the inflamed score (IS, % of inflamed area) and the inflamed phenotype (&gt;33.3% IS). Clinical outcomes after immune checkpoint inhibitor (anti-PD-1/PD-L1) treatment, including progression-free survival (PFS) and overall-survival (OS), were assessed. Results: In the overall cohort (n = 225), the inflamed phenotype was associated with prolonged PFS (HR = 0.634, 95% CI: 0.453 – 0.887, p = 0.007) and OS (HR = 0.655, 95% CI: 0.432 – 0.992, p = 0.044). On analysis of melanoma subtypes, we identified non-acral cutaneous melanomas (CM, n = 94), acral melanomas (AM, n = 52), mucosal melanomas (n = 43), uveal melanomas (n = 16), and melanomas of unknown primary site (n = 20), with a disproportionate enrichment of AM (37.4%) and mucosal (29.3%) melanoma cases in the YUHS cohort and CM cases (68.6%) in the Stanford cohort. The IS varied across different melanoma subtypes, with the highest IS observed in CM (median, [IQR]; 34.0, [5.8–52.2]), and significantly lower scores in AM (22.3, [7.7–36.9]), mucosal (13.6, [0–31.4]), and uveal melanoma (5.5, [0–13.6]). Among CM patients, the inflamed phenotype was significantly associated with better post-immunotherapy PFS (HR = 0.476, 95% CI: 0.274 – 0.826, p = 0.007). In contrast, the inflamed phenotype did not correlate with survival in AM patients (p = 0.58), who exhibited universally poorer PFS compared to non-AM patients (HR = 2.124, 95% CI: 1.486 - 3.005). Conclusions: AI-powered immune phenotype assessment highlights a heterogeneity of immune phenotypes across specific melanoma subtypes, as well as differential association with outcomes after immune checkpoint inhibitor treatment. While CM patients were well-stratified by immune phenotype, the predictive value of immune phenotyping was less pronounced in acral melanomas, which demonstrated poorer outcomes following immunotherapy.

PHASIX™ ST MESH FOR CRURAL REINFORCEMENT DURING GIANT HIATAL HERNIA REPAIR: PRESENTATION OF SURGICAL TECHNIQUE

Abstract Aim Crural mesh reinforcement during large hiatal hernia repair has been advocated to defend against early recurrences. However, the optimal mesh material and configuration remain in question. This study presents the rationale and surgical technique for crural repair augmentation using Phasix™ ST Mesh. Methods We present a case of a giant hiatal hernia and outline the rationale and surgical technique for using Phasix™ ST Mesh in the repair. Results A 72-year-old man presented with a giant type IV hiatal hernia. A massive mediastinal protrusion of intra-abdominal fat and viscera, and an associated crucial cardiorespiratory compromise were noted. A preoperative CT scan revealed a widened hiatus measuring 9.2 × 7.6 cm. The patient underwent laparoscopic hiatal hernia repair and Nissen fundoplication. During the procedure, following visceral reduction and hernia sac dissection and excision, a widened round hiatus and significantly thinned crura were found. To reinforce the primary crural suturing, two strips of Phasix™ ST Mesh, each measuring 1.5 × 4 cm, were used, and a U-shaped mesh was placed onlay to augment the repair. The procedure lasted 214 minutes, and the patient was discharged on the 3rd postoperative day without complications. Conclusions The application of Phasix™ ST Mesh in the repair of giant hiatal hernias offers the dual benefits of reconstructing the original anatomy and reinforcing the hiatus, while avoiding the implantation of permanent foreign material around the esophagus.