Lipoma

Cardiac lipoma is an uncommon primary cardiac tumor. With the advancement of diagnostic methods and treatment techniques, more cases of cardiac lipomas have been reported and suggest that the entity previously widely thought to display classic features may also show atypical findings. A systemic review of the rare cardiac tumor was done by searching the literature of cardiac lipoma. We endeavor to summarize the clinical features of the rare disease from pathogenesis to treatment. Literature of cardiac lipoma was retrospectively searched through PubMed and 255 cases of cardiac lipoma were included into this analysis. Cardiac lipomas can occur anywhere within the heart, 53.1% were located within the cardiac chambers, 32.5% in the pericardium, 10,7% within the myocardium and 3.7% involved multiple structures. More than half of the reported cardiac lipomas (66%) may be clinically symptomatic, presenting with symptoms ranging from chest discomfort to syncope depending on their size and location as well as extent of myocardial involvement. Noninvasive cardiac imaging has replaced the role of autopsy and cardiothoracic surgery in detection and diagnosis of cardiac lipomas. Most symptomatic patients (83.7%) were treated by resection of cardiac lipomas and 68.3% of asymptomatic patients also underwentprophylactic resection. Overgrowth and myocardial infiltration of lipomas may result in unsuccessful resection. Recurrence of cardiac lipomas was rare but reported in a few cases. The early detection and accurate diagnosis of cardiac lipoma is of great significance in clinical management, to avoid an unfavourable outcome due to overgrowth.

BackgroundTheragnostic management, treatment according to precise pathological molecular targets, requests to unravel patients' genotypes. We used targeted next-generation sequencing (NGS) or digital droplet polymerase chain reaction (ddPCR) to screen for somatic PIK3CA mutations on DNA extracted from resected lesional tissue or lymphatic endothelial cells (LECs) isolated from lesions. Our cohort (n = 143) was composed of unrelated patients suffering from a common lymphatic malformation (LM), a combined lymphatic malformation [lymphatico-venous malformation (LVM), capillaro-lymphatic malformation (CLM), capillaro-lymphatico-venous malformation (CLVM)], or a syndrome [CLVM with hypertrophy (Klippel-Trenaunay-Weber syndrome, KTS), congenital lipomatous overgrowth-vascular malformations-epidermal nevi -syndrome (CLOVES), unclassified PIK3CA-related overgrowth syndrome (PROS) or unclassified vascular (lymphatic) anomaly syndrome (UVA)].ResultsWe identified a somatic PIK3CA mutation in resected lesions of 108 out of 143 patients (75.5%). The frequency of the variant allele ranged from 0.54 to 25.33% in tissues, and up to 47% in isolated endothelial cells. We detected a statistically significant difference in the distribution of mutations between patients with common and combined LM compared to the syndromes, but not with KTS. Moreover, the variant allele frequency was higher in the syndromes.ConclusionsMost patients with an common or combined lymphatic malformation with or without overgrowth harbour a somatic PIK3CA mutation. However, in about a quarter of patients, no such mutation was detected, suggesting the existence of (an)other cause(s). We detected a hotspot mutation more frequently in common and combined LMs compared to syndromic cases (CLOVES and PROS). Diagnostic genotyping should thus not be limited to PIK3CA hotspot mutations. Moreover, the higher mutant allele frequency in syndromes suggests a wider distribution in patients' tissues, facilitating detection. Clinical trials have demonstrated efficacy of Sirolimus and Alpelisib in treating patients with an LM or PROS. Genotyping might lead to an increase in efficacy, as treatments could be more targeted, and responses could vary depending on presence and type of PIK3CA-mutation.

BackgroundEsophageal lipomatous tumors, also reported as fibrovascular polyp, fibrolipoma, angiolipoma, and liposarcoma, account for less than 1% of all benign mesenchymal submucosal tumors of the esophagus. Clinical presentation and therapy may differ based on location, size, and morphology. A comprehensive and updated systematic review of the literature is lacking.MethodsA systematic review of the literature was performed according to PRISMA guidelines. Pubmed, Embase, Cochrane, and Medline databases were consulted using MESH keywords. Non-English written articles and abstracts were excluded. Sex, age, symptoms at presentation, diagnosis, tumor location and size, surgical approach and technique of excision, pathology, and morphology were extracted and recorded in an electronic database.ResultsSixty-seven studies for a total of 239 patients with esophageal lipoma or liposarcoma were included in the qualitative analysis. Among 176 patients with benign lipoma, the median age was 55. The main symptoms were dysphagia (64.2%), transoral polyp regurgitation (32.4%), and globus sensation (22.7%). The majority of lipomas (85.7%) were intraluminal polyps, with a stalk originating from the upper esophagus. Overall, 165 patients underwent excision of the mass through open surgery (65.5%), endoscopy (27.9%), or laparoscopy/thoracoscopy (3.6%). Only 5 (3%) of patients required esophagectomy. Of the 11 untreated patients with an intraluminal polyp, 7 died from asphyxia. Overall, liposarcoma was diagnosed in 63 patients, and 12 (19%) underwent esophagectomy.ConclusionEsophageal lipomatous tumors are rare but potentially lethal when are intraluminal and originate from the cervical esophagus. Modern radiological imaging has improved diagnostic accuracy. Minimally invasive transoral and laparoscopic/thoracoscopic techniques represent the therapeutic approach of choice.

Fat-containing soft-tissue tumors encompass a broad spectrum of entities, ranging from indolent lipomas to aggressive liposarcomas, many of which share overlapping MRI features that pose diagnostic challenges even for experienced radiologists. In this review, we provide a focused, evidence-based synthesis of the current literature to outline a practical framework for the imaging evaluation of adipocytic soft-tissue lesions. Key MRI features that aid in distinguishing benign from intermediate and malignant tumors are discussed, with emphasis on imaging-pathology correlation and common diagnostic pitfalls. While conventional MRI criteria, such as lesion size, depth, septal thickness, and nodularity, remain central to risk stratification, we also review the complementary role of contrast-enhanced MRI and molecular testing, including MDM2 amplification and FUS::DDIT3 fusion analysis, particularly in indeterminate cases. Emerging tools, such as radiomics and artificial intelligence-based approaches, are briefly addressed as evolving adjuncts. By integrating classical imaging principles with contemporary classification frameworks, this article aims to serve as a comprehensive and clinically relevant reference for radiologists involved in the assessment and management of fat-containing soft-tissue tumors.