Cortical hypertrophy in intramuscular hemangioma mimicking bone tumor.

Although hemangiomas are the most common soft tissue tumors, intramuscular hemangiomas account for only 0.8% of all vascular tumors. These lesions are rarely located adjacent to the bone and cause changes in the adjacent bone. They are often mistakenly diagnosed as bone tumors. In this study, a case of a 19-year-old male patient with intramuscular hemangioma causing cortical thickening was reported.

Management of Diaphragm Tumors.

Diaphragm tumors are very rare, with secondary tumors being more common than primary tumors. The most common benign primary tumors include lipomas and cysts, and malignant primary tumors include rhabdomyosarcoma and leiomyosarcoma. Endometriosis is the most common benign secondary tumor, followed by malignant tumors with localized spread of disease. In addition, widely metastatic disease has been described. Benign lipomas and cysts can be managed conservatively, but more complex or concerning disease typically requires resection. The diaphragm can often be repaired primarily, though any large defect or tension would indicate the need for mesh or an autologous reconstruction.

Cardiac and Intramuscular Metastases Following Nephroureterectomy for Metachronous Urothelial Carcinoma.

BACKGROUND We present a case of metachronous cardiac and intramuscular metastases in a patient with a known history of radical nephroureterectomy for upper-tract urothelial carcinoma (UTUC). CASE REPORT A 58-year-old man had a history of metachronous renal pelvis urothelial carcinoma with prior left radical nephroureterectomy. He was also diagnosed with malignancy-associated deep vein thrombosis (DVT) and was on rivaroxaban. He presented at an oncology follow-up consult with shortness of breath and right scapular lump. CT scan revealed a soft-tissue mass at the surgical bed suspicious for local recurrence, as well as intracardiac hypodensities and intramuscular nodules in the right latissimus dorsi and right adductor muscles. The intracardiac hypodensities were located in the left atrial appendage and inter-atrial septum. Given that the patient had a history of DVT and in a pro-thrombotic state, differentials for the intracardiac densities included intracardiac thrombi or metastases. The intramuscular hypodensities were rim-enhancing. Given that the patient was on rivaroxaban, differentials included hematomas or metastases. As there was no overlying bruising and the lesions remained unchanged in size clinically, they were treated as metastases. The patient was treated with clexane but re-presented with worsening of shortness of breath and palpitations. CT scan showed increased size of intracardiac lesions, suggesting no response to anticoagulation, and therefore were likely metastatic in nature. He completed a 2-year course of IV pembrolizumab and was in complete remission. CONCLUSIONS Our case highlights the importance of this clinically challenging scenario when patients with known malignancy and on anticoagulation present with cardiac or musculoskeletal symptoms. Though these patients are at risk of thrombus and haematoma, cardiac and intramuscular metastasis should be considered, as the prognosis is guarded.

Advancing musculoskeletal tumor diagnosis: Automated segmentation and predictive classification using deep learning and radiomics.

OBJECTIVES: Musculoskeletal (MSK) tumors, given their high mortality rate and heterogeneity, necessitate precise examination and diagnosis to guide clinical treatment effectively. Magnetic resonance imaging (MRI) is pivotal in detecting MSK tumors, as it offers exceptional image contrast between bone and soft tissue. This study aims to enhance the speed of detection and the diagnostic accuracy of MSK tumors through automated segmentation and grading utilizing MRI. MATERIALS AND METHODS: The research included 170 patients (mean age, 58 years ±12 (standard deviation), 84 men) with MSK lesions, who underwent MRI scans from April 2021 to May 2023. We proposed a deep learning (DL) segmentation model MSAPN based on multi-scale attention and pixel-level reconstruction, and compared it with existing algorithms. Using MSAPN-segmented lesions to extract their radiomic features for the benign and malignant classification of tumors. RESULTS: Compared to the most advanced segmentation algorithms, MSAPN demonstrates better performance. The Dice similarity coefficients (DSC) are 0.871 and 0.815 in the testing set and independent validation set, respectively. The radiomics model for classifying benign and malignant lesions achieves an accuracy of 0.890. Moreover, there is no statistically significant difference between the radiomics model based on manual segmentation and MSAPN segmentation. CONCLUSION: This research contributes to the advancement of MSK tumor diagnosis through automated segmentation and predictive classification. The integration of DL algorithms and radiomics shows promising results, and the visualization analysis of feature maps enhances clinical interpretability.

Unique Case of Rare Non-Neural Granular Cell Tumor of the Rectus Abdominis Muscle.

Background and Objectives: Our report contributes a unique case of a non-neural GCT occurring in an unusual location, with its development during pregnancy adding to its rarity. Materials and Methods: Granular cell tumors (GCTs), also known as Abrikossoff's tumors, are rare neoplasms of Schwann cell origin with predominantly benign behavior. We present a case of a 29-year-old female with a non-neural variant of a GCT discovered incidentally during a cesarean section, situated on the posterior surface of the rectus abdominis muscle. Results: Histologically, the tumor exhibited features consistent with a benign non-neural GCT, confirmed through an immunohistochemical analysis. Despite the atypical presentation and challenging surgical removal due to prior scarring, the patient experienced no postoperative complications and showed no signs of recurrence during follow-up. Conclusions: This case highlights the importance of considering GCTs in differential diagnoses, particularly in unusual anatomical locations, and underscores the favorable prognosis associated with timely surgical intervention.

Recurrent Metastatic Ewing Sarcoma Involving Only in the Muscles of Extremities Shown on FDG PET/CT.

ABSTRACT: Ewing sarcoma is the second most common osseous malignancy in pediatric patient. Metastasis is common due to its aggressive nature, with 25% of patients with metastasis at diagnosis, commonly to the lungs, bone, or bone marrow. Muscle metastasis is uncommon. We report FDG PET/CT findings of multifocal muscle metastases of recurrent Ewing sarcoma in the extremities without lung and bone involvement in a 6-year-old boy.

Giant orbital leiomyoma in a pediatric patient: diagnostic and therapeutic challenge.

This manuscript describes an exceptional case of a long-standing orbital leiomyoma in a 14-year-old male. The tumor was unusually large, causing severe proptosis and significant involvement of the ocular muscles. The patient presented with amaurosis, complete ophthalmoplegia, spontaneous eye pain, and the inability to close the eyelids, leading to psychological distress. Due to the tumor's size and progression, a right orbital exenteration was performed to remove all orbital contents, including the tumor and the eyeball. The surgical procedure aimed to prevent tumor recurrence and improve the patient's quality of life. The histopathological analysis confirmed the diagnosis of orbital leiomyoma. This case presents a particular interest due to the degree of evolution it has reached. Complete tumor excision and long-term follow-up are necessary to prevent recurrence and ensure optimal patient outcomes. This report underscores global healthcare disparities and the complexity of managing rare orbital neoplasms in diverse country settings.

Genetic characterization of intramuscular myxomas.

Introduction: Intramuscular myxomas are benign tumors that are challenging to diagnose, especially on core needle biopsies. Acquired chromosomal aberrations and pathogenic variants in codon 201 or codon 227 in GNAS complex locus gene (GNAS) have been reported in these tumors. Here we present our genetic findings in a series of 22 intramuscular myxomas. Materials and methods: The tumors were investigated for the presence of acquired chromosomal aberrations using G-banding and karyotyping. Pathogenic variants in codon 201 or codon 227 of GNAS were assessed using direct cycle Sanger sequencing and Ion AmpliSeq Cancer Hotspot Panel v2 methodologies. Results: Eleven tumors carried chromosomal abnormalities. Six tumors had numerical, four had structural, and one had both numerical and structural chromosomal aberrations. Gains of chromosomes 7 and 8 were the most common abnormalities being found in five and four tumors respectively. Pathogenic variants in GNAS were detected in 19 myxomas (86%) with both methodologies. The detected pathogenic variants were p.R201H in nine cases (seven with abnormal and two with normal karyotypes), p.R201C in five cases, all with normal karyotypes, p.R201S in three cases (two with abnormal and one with normal karyotype), p.R201G in one case with a normal karyotype, and p.Q227E in one case with a normal karyotype. Conclusion: Firstly, our data indicate a possible association between chromosomal abnormalities and GNAS pathogenic variants in intramuscular myxomas. Secondly, the presence of the rare pathogenic variants R201S, p.R201G and p.Q227E in 26% (5 out of 19) of myxomas with GNAS pathogenic variants shows that methodologies designed to detect only the common "hotspot" of p.R201C and p.R201H will give false negative results. Finally, a comparison between Ion AmpliSeq Cancer Hotspot Panel v2 and direct cycle Sanger sequencing showed that direct cycle Sanger sequencing provides a quick, reliable, and relatively cheap method to detect GNAS pathogenic variants, matching even the most cutting-edge sequencing methods.

Rapidly growing intramuscular lipoma: a unique entity of benign lipomas in children.

This report presents a case of an intramuscular lipoma observed in the left back of a healthy female toddler. It was resected after 3 months of observation because of rapid enlargement, raising suspicion of malignancy. Histopathological examination confirmed a diagnosis of intramuscular lipoma without malignant and blastemal components. Intramuscular lipomas are benign neoplasms that mostly appear as a rapidly growing tumour. Several hypotheses regarding the pathogenesis of this characteristic growth pattern have been proposed, including atrophy of the surrounding muscle, reactive adipocytic neoformation and multiple contractive interactions between the lipoma and the surrounding muscle.

Inflammatory Rhabdomyoblastic Tumor: From a Nebulous Smooth Muscle Neoplasm to a Novel Skeletal Muscle Tumor Subtype.

Inflammatory rhabdomyoblastic tumor is a recently introduced name for neoplasms currently included in the World Health Organization classification of soft tissue tumors under the rubric inflammatory leiomyosarcoma. Inflammatory rhabdomyoblastic tumor is an excellent example of how surgical pathologists working in conjunction with tumor biologists can greatly improve tumor classification to the benefit of patients. Over the last 28 years, understanding of this entity has undergone a fascinating evolution. This review serves as a summary of the latest findings in inflammatory rhabdomyoblastic tumor research and a diagnostic manual for the practicing surgical pathologist.

Inflammatory Rhabdomyoblastic Tumor: Clinicopathologic and Molecular Analysis of 13 Cases.

Inflammatory rhabdomyoblastic tumors (IRMTs) are newly recognized skeletal muscle tumors with uncertain malignant potential. We investigated 13 IRMTs using clinicopathologic, genetic, and epigenetic methods. The cohort included 7 men and 6 women, aged 23 to 80 years (median, 50 years), of whom 2 had neurofibromatosis type 1. Most tumors occurred in the deep soft tissues of the lower limbs, head/neck, trunk wall, and retroperitoneum/pelvis. Two tumors involved the hypopharyngeal submucosa as polypoid masses. Eight tumors showed conventional histology of predominantly spindled cells with nuclear atypia, low mitotic activity, and massive inflammatory infiltrates. Three tumors showed atypical histology, including uniform epithelioid or plump cells and mitotically active histiocytes. The remaining 2 tumors demonstrated malignant progression to rhabdomyosarcoma; one had additional IRMT histology and the other was a pure sarcoma. All 11 IRMTs without malignant progression exhibited indolent behavior at a median follow-up of 43 months. One of the 2 patients with IRMTs with malignant progression died of lung metastases. All IRMTs were positive for desmin and PAX7, whereas myogenin and MyoD1 were expressed in a subset of cases. Targeted next-generation sequencing identified pathogenic mutations in NF1 (5/8) and TP53 (4/8). All TP53 mutations co-occurred with NF1 mutations. TP53 variant allele frequency was much lower than that of NF1 in 2 cases. These tumors showed geographic (subclonal) strong p53 immunoreactivity, suggesting the secondary emergence of a TP53-mutant clone. DNA methylation-based copy number analysis conducted in 11 tumors revealed characteristic flat patterns with relative gains, including chromosomes 5, 18, 20, 21, and/or 22 in most cases. Widespread loss of heterozygosity with retained biparental copies of these chromosomes was confirmed in 4 tumors analyzed via allele-specific profiling. Based on unsupervised DNA methylation analysis, none of the 11 tumors tested clustered with existing reference entities but formed a coherent group, although its specificity warrants further study.

AI-powered radiomics: revolutionizing detection of urologic malignancies.

PURPOSE OF REVIEW: This review aims to highlight the integration of artificial intelligence-powered radiomics in urologic oncology, focusing on the diagnostic and prognostic advancements in the realm of managing prostate, kidney, and bladder cancers. RECENT FINDINGS: As artificial intelligence continues to shape the medical imaging landscape, its integration into the field of urologic oncology has led to impressive results. For prostate cancer diagnostics, machine learning has shown promise in refining clinically-significant lesion detection, with some success in deciphering ambiguous lesions on multiparametric MRI. For kidney cancer, radiomics has emerged as a valuable tool for better distinguishing between benign and malignant renal masses and predicting tumor behavior from CT or MRI scans. Meanwhile, in the arena of bladder cancer, there is a burgeoning emphasis on prediction of muscle invasive cancer and forecasting disease trajectory. However, many studies showing promise in these areas face challenges due to limited sample sizes and the need for broader external validation. SUMMARY: Radiomics integrated with artificial intelligence offers a pioneering approach to urologic oncology, ushering in an era of enhanced diagnostic precision and reduced invasiveness, guiding patient-tailored treatment plans. Researchers must embrace broader, multicentered endeavors to harness the full potential of this field.

Cotyledonoid dissecting leiomyoma of the uterus: a case report and review of the literature.

BACKGROUND: Cotyledonoid dissecting leiomyoma, also named Sternberg tumor, is a rare variant of uterine leiomyoma. The tumor is benign, but the appearance and growth pattern are unusual and alarming. In this article, we report a case of cotyledonoid dissecting leiomyoma in a 55-year-old woman as well as review relevant literature. CASE PRESENTATION: We report a case of cotyledonoid dissecting leiomyoma in a 55-year-old Iranian woman who presented with vaginal bleeding 4 months after menopause. Ultrasound showed two heterogeneous hypoechoic masses on the uterine fundus. Total abdominal hysterectomy and bilateral salpingo-oophorectomy were performed for the patient. Macroscopically, a large heterogeneous intramural mass (140 mm × 120 mm × 120 mm) with a grape-like exophytic mass on the fundus was observed. Her health status was good after surgery, and the patient was discharged from the hospital after 2 days. In a 1-year follow-up period, no recurrence or any other related complications were found. CONCLUSION: It is important to recognize this rare variant of leiomyoma to prevent aggressive and inappropriate overdiagnosis and overtreatment. It is suggested to try to use frozen sections for better diagnosis and to preserve fertility in young women suffering from this lesion.

Solitary fibrous tumor resembling pulmonary fractionation disease: A case report.

RATIONALE: Preoperative differentiation between pulmonary fractionation and solitary fibrous tumors (SFTs) is challenging. Diaphragmatic primary tumors are relatively rare among SFTs, with limited reports of abnormal vascularity. PATIENT CONCERNS: A 28-year-old male patient was referred to our department for surgical resection of a tumor near the right diaphragm, Thoracoabdominal contrast-enhanced computed tomography (CT) scan revealed a 10 × 8 cm mass lesion at the base of the right lung. The inflow artery to the mass was an anomalous vessel in which the left gastric artery bifurcated from the abdominal aorta, and its origin was the common trunk and right inferior transverse artery. DIAGNOSIS: The tumor was diagnosed as right pulmonary fractionation disease based on the clinical findings. The postoperative pathological examination determined a diagnosis of SFT. INTERVENTIONS: The pulmonary vein was used to irrigate the mass. The patient was diagnosed with pulmonary fractionation and underwent surgical resection. Intraoperative findings revealed a stalked, web-like venous hyperplasia anterior to the diaphragm, contiguous with the lesion. An inflow artery was found at the same site. The patient was subsequently treated using a double ligation technique. The mass was partially contiguous with S10 in the right lower lung and stalked. An outflow vein was identified at the same site, and the mass was removed using an automatic suture machine. OUTCOMES: The patient received follow-up examinations that involved a chest CT scan every 6 months, and no tumor recurrence was reported during 1 year of postoperative follow-up. LESSONS: Differentiating between SFT and pulmonary fractionation disease may be challenging during preoperative diagnosis; therefore, aggressive surgical resection should be considered as SFTs may be malignant. Identification of abnormal vessels using contrast-enhanced CT scans may be effective in reducing surgical time and improving the safety of the surgical procedure.

Molecular classification of muscle-invasive bladder cancer based on a simplified immunohistochemical panel using GATA3, CK5/6 and p16.

The choice of therapy for muscle-invasive bladder cancer (MIBC) could be influenced by the tumor's molecular subtype. Currently, well-defined consensus subtypes are based on tumor microarray mRNA data. Clearly defined and easy-to-use surrogate molecular subtypes, based on immunohistochemistry (IHC) performed on whole slides, are needed to make subtyping cost-effective and useful in routine work and future research. To aid in the development of a simple immunohistochemical classifier, a retrospective single-center series of 92 cases of localized bladder cancer was identified. Routine IHC for GATA3, cytokeratins 5 and 6 (CK5/6), and p16 was performed on whole tissue blocks containing muscle-invasive disease. Electronic medical records were retrieved and searched for clinical variables, treatment, and survival data. The mean age was 69.6 years, and 73% were males. Conservative treatment was used in 55% of cases, while cystectomy with chemotherapy was used in 45%. GATA3 and CK5/6 expression divided cases into broad luminal and basal subtypes, respectively, while p16 expression was used to subclassify luminal cases into luminal papillary and luminal unstable types according to the consensus molecular classification. When subtyped in this way, GATA3 and CK5/6 negative cases showed worse overall survival. Molecular subtyping of MIBC on whole slides containing muscle-invasive tumor using only three commonly used, consensus-based antibodies, is a feasible and cost-effective method for detecting subtypes of invasive bladder cancer. Future work combining morphological analysis and IHC is needed to fully translate the consensus molecular classification into a comprehensive, cost-effective subtyping strategy.

Leiomyosarcoma, a rare smooth muscle cancer in the pancreas: An adjuvant radiotherapy treatment approach.

BACKGROUND: Leiomyosarcoma of visceral organs is uncommon, and pancreatic primary occurrence is even rarer. In terms of curative treatment, patients are generally managed with surgery alone, without significant data on the role or efficacy of adjuvant chemotherapy. CASE PRESENTATION: This manuscript presents a case of a 22-year-old female with advanced primary leiomyosarcoma of the pancreas, treated with radical surgery and adjuvant radiation therapy. CONCLUSION: With a low-survival rate, consideration of radiation therapy in some advanced and unresectable cases could be potentially beneficial.

Leiomyoma presenting as an anterior vaginal mass.

Leiomyoma, otherwise known as a fibroid, is commonly encountered in the uterus. Vaginal leiomyomas are extremely rare with a relative paucity of cases reported in the literature. Due to the rarity of the disease and complexity of the vaginal anatomy, definitive diagnosis and treatment are challenging. The diagnosis is often only made postoperatively after resection of the mass. They usually arise from the anterior vaginal wall and women may present with dyspareunia, lower abdominal pain, vaginal bleeding or dysuria. Imaging with a transvaginal ultrasound scan and MRI can confirm the vaginal origin of the mass. Surgical excision is the treatment of choice. The diagnosis is confirmed following histological assessment. The authors present the case of a woman in her late 40s presenting to the gynaecology department with an anterior vaginal mass. Further investigation with a non-contrast MRI was suggestive of a vaginal leiomyoma. She underwent surgical excision. Histopathological features were in keeping with the diagnosis of a hydropic leiomyoma. A high index of clinical suspicion is required to establish the diagnosis as it can be mistaken for a cystocele, Skene duct abscess or Bartholin gland cyst. Although it is a benign entity, local recurrence following incomplete resection and sarcomatous changes have been reported.