A scoring system combining clinical, radiological, and histopathological examinations for differential diagnosis between lipoma and atypical lipomatous tumor/well-differentiated liposarcoma.

This study evaluated the diagnostic accuracy of clinical, radiological, and histopathological examinations for differential diagnosis between atypical lipomatous tumor (ALT)/well-differentiated liposarcoma (WDLS) and lipoma, and aimed to develop a new combined scoring system for the preoperative diagnosis of ALT/WDLS. Eighty-nine lipomas and 56 ALT/WDLS were included and their clinical characteristics, magnetic resonance imaging (MRI) findings, histological findings by hematoxylin and eosin (HE) staining were investigated. Then, univariate and multivariate logistic regression analyses were performed for the findings, and a combined scoring system consisted of predictive factors of ALT/WDLS was developed. The univariate and multivariate logistic regression analyses revealed that tumor location (lower extremity), deep site, size (> 11 cm), thick septa (> 2 mm), enhancement of septa or nodular lesions, and lipoblasts were significantly different for the diagnosis of ALT/WDLS. We developed a combined scoring system based on the six predictive factors (total 0-16 points, the cutoff was 9 points). The area under the curve was 0.945, and sensitivity was 87.6% and specificity was 91.1% by the receiver operating characteristics curve. This combined scoring system does not require special equipment and reagents such as fluorescence in situ hybridization (FISH), and anyone can use it easily in many medical institutions with high diagnostic accuracy.

Reduced lipolysis in lipoma phenocopies lipid accumulation in obesity.

BACKGROUND: Elucidation of lipid metabolism and accumulation mechanisms is of paramount importance to understanding obesity and unveiling therapeutic targets. In vitro cell models have been extensively used for these purposes, yet, they do not entirely reflect the in vivo setup. Conventional lipomas, characterized by the presence of mature adipocytes and increased adipogenesis, could overcome the drawbacks of cell cultures. Also, they have the unique advantage of easily accessible matched controls in the form of subcutaneous adipose tissue (SAT) from the same individual. We aimed to determine whether lipomas are a good model to understand lipid accumulation. METHODS: We histologically compared lipomas and control SAT, followed by assessment of the lipidome using high-resolution 1H NMR spectroscopy and ESI-IT mass spectrometry. RNA-sequencing was used to obtain the transcriptome of lipomas and the matched SAT. RESULTS: We found a significant increase of small-size (maximal axis < 70 µm) and very big (maximal axis > 150 µm) adipocytes within lipomas. This suggests both enhanced adipocyte proliferation and increased lipid accumulation. We further show that there is no significant change in the lipid composition compared to matched SAT. To better delineate the pathophysiology of lipid accumulation, we considered two groups with different genetic backgrounds: (1) lipomas with HMGA2 fusions and (2) without gene fusions. To reduce the search space for genes that are relevant for lipid pathophysiology, we focused on the overlapping differentially expressed (DE) genes between the two groups. Gene Ontology analysis revealed that DE genes are enriched in pathways related to lipid accumulation. CONCLUSIONS: We show that the common shared lipid accumulation mechanism in lipoma is a reduction in lipolysis, with most gene dysregulations leading to a reduced cAMP in the adipocyte. Superficial lipomas could thus be used as a model for lipid accumulation through altered lipolysis as found in obese patients.

Compressive Neuropathy of the Ulnar Nerve in the Hypothenar Region by Lipoma: Case Report

Lipomas are well-defined tumors of the adipose tissue that often occur in the torso or the extremities of adult patients. These tumors usually develop painlessly and insidiously, but theymay compress adjacent structures. The objective of the present study is to describe the case of a 68-year-old female patient with a giant lipoma located at the hypothenar region, with manifestation of compression of the common palmar digital nerves, the ulnar nerve, andthe abductormuscle of theVfinger. Regarding the symptoms, the patient feltmoderate pain in the hypothenar region, with no Tinel sign, and no changes in the motor function or sensibility of the digits innervated by the ulnar nerve. Lipomasmay present a varied range of histological characteristics, and malignant tumors may be a differential diagnosis. An imaging exammay aid in the diagnosis, which is confirmed by a histopathological study. For the present case, as recommended in the literature, a surgical procedure was performed for the resection of the tumor, which resulted in the control of the symptoms.

Pedunculated Lipoma of the Caecum Causing Colocolic Intussusception in an Adult.

INTRODUCTION: Colocolic intussusception in adults is uncommon and poses both a diagnostic and therapeutic dilemma. The association of an underlying malignancy necessitates a preoperative confirmation of diagnosis. The presenting features are variable. Hence contrast enhanced computed tomography of the abdomen is pivotal for diagnosis. An en bloc resection of the specimen in accordance with standard oncological principles is the mainstay of treatment. CASE REPORT: A case of colocolic intussusception in an adult is presented to highlight the difficulties in preoperative diagnosis and in selecting the best surgical option for treatment. CONCLUSION: Adult bowel intussusception is a diagnostic dilemma with preoperative diagnosis being the biggest challenge. CT scan of the abdomen is an excellent diagnostic modality with high diagnostic accuracy. Explorative laparotomy with en bloc resection is mainstay of treatment in adults.

Holoprosencephaly or severe hydrocephalus: T1 sequence tells the story.

Intracranial lipoma is a relatively rare benign lesion. Many are incidental findings; however, some others may present with headache, hydrocephalus or other neurological symptoms; thus, correct diagnosis of this condition is important. These lesions are of high signal intensity on T2-weighted MRI and especially those close to cerebrospinal fluid (CSF) spaces, can easily be overlooked in the background of high signal intensity of CSF. Here, we present a case of tectal lipoma, with subsequent severe hydrocephalus and absence of septum pellucidum which was initially misinterpreted as a form of holoprosencephaly, due to inadequate attention to T1-weighted images.

Lipoma obstructivo de laringe / Obstructive laryngeal lipoma

Los lipomas de laringe son tumores benignos de crecimiento lento, pero pueden producir síntomas graves como disnea inspiratoria, apneas del sueño y disfagia. Se describe el caso clínico de un paciente con un lipoma extenso de laringe e hipofaringe que consultó por disfagia y disnea inspiratoria intermitente, y que fue tratado con éxito mediante un abordaje transoral con microscopio asistido con cauterio y láser de CO2. (AU)

Laryngeal lipomas are benign, slow-growing tumors, but they can produce severe symptoms such as inspiratory dyspnea, sleep apnea, and dysphagia. We describe the clinical case of a patient with an extensive lipoma of the larynx and hypopharynx who consulted for dysphagia and intermittent inspiratory dyspnea, and who was successfully treated by a transoral approach with microscope and assisted with cautery and CO2 laser. (AU)

Laparoscopic resection of large pelvic lipoma causing obstructive uropathy in a 66 year old female - A case report from Greece.

Lipomas are benign, usually asymptomatic, tumours and pelvic lipomas are extremely rare. We describe the case of a giant pelvic lipoma causing obstructive uropathy to a 66-year-old morbidly obese female treated in the 4th Surgical Department of the Medical School of Aristotle University of Thessaloniki in General Hospital "G. Papanikolaou" in March 2016. The patient presented with a history of nocturia and frequent daytime urination for 1 year. Her medical history included diffuse lipomatosis. Computer tomography revealed a giant pelvic mass which lead to left side hydronephrosis, hydrouterer and a pear-shaped bladder, with the differential diagnosis including pelvic lipoma or liposarcoma. An ultrasound guided biopsy excluded the diagnosis of liposarcoma. The patient was submitted to laparoscopic resection of the pelvic lipoma, with complete remission of urinary symptoms. The key-point is to consider the possibility that the pelvic mass is a well-differentiated liposarcoma and to manage it adequately and thus, we recommend intact excision of the mass through a wound protector, and extreme caution to avoid any rupture of the capsule.

Fatty Images of the Heart: Spectrum of Normal and Pathological Findings by Computed Tomography and Cardiac Magnetic Resonance Imaging.

Ectopic cardiac fatty images are not rarely detected incidentally by computed tomography and cardiac magnetic resonance, or by exams focused on the heart as in general thoracic imaging evaluations. A correct interpretation of these findings is essential in order to recognize their normal or pathological meaning, focusing on the eventually associated clinical implications. The development of techniques such as computed tomography and cardiac magnetic resonance allowed a detailed detection and evaluation of adipose tissue within the heart. This pictorial review illustrates the most common characteristics of cardiac fatty images by computed tomography and cardiac magnetic resonance, in a spectrum of normal and pathological conditions ranging from physiological adipose images to diseases presenting with cardiac fatty foci. Physiologic intramyocardial adipose tissue may normally be present in healthy adults, being not related to cardiac affections and without any clinical consequence. However cardiac fatty images may also be the expression of various diseases, comprehending arrhythmogenic right ventricular dysplasia, postmyocardial infarction lipomatous metaplasia, dilated cardiomyopathy, and lipomatous hypertrophy of the interatrial septum. Fatty neoplasms of the heart as lipoma and liposarcoma are also described.

Placode rotation in transitional lumbosacral lipomas: are there implications for origin and mechanism of deterioration?

PURPOSE: Rotation of the lipoma-neural placode has been noted in transitional lumbosacral lipomas. The purpose of this study was to confirm this rotation; that this rotation occurs with a preference to the left, and correlates with clinical symptoms. In addition, this study tests the hypothesis that this rotation occurs through local mechanical forces rather than intrinsic congenital malformation. METHODS: Lipomas were classified as per the Chapman classification. Degree of rotation of the placode from the coronal plane was recorded along with the presence of herniation outside of the vertebral canal. Abnormalities on urodynamic testing were recorded, along with neuro-orthopaedic signs picked up on formal neuro-physiotherapy assessment. RESULTS: Placode rotation occurs more frequently in the transitional group. Regardless of lipoma classification, rotation was much more common to the left. Furthermore, when lateralisation of symptoms was present, this strongly correlated with the direct of rotation. There was no difference in rotation of the placode whether it was within (lipomyelocoele) or without the vertebral canal (lipomyelomeningocoele). CONCLUSIONS: Placode rotation is a feature of transitional lumbosacral lipomas and may account for the increase in symptoms amongst this subgroup. Herniation of the placode outside the vertebral canal does not increase the risk of rotation suggesting a congenital cause for this finding rather than a purely mechanical explanation.

Parosteal lipoma as a rare cause of peripheral neuropathy and local irritation: A report of 12 cases.

OBJECTIVE: The aim of this study was to evaluate the clinical features and functional results of patients with parosteal lipomas. METHODS: A total of 12 patients (8 females and 4 males; mean age: 45 (10-62) years) with parosteal lipomas who were treated between April 1986 and April 2014, were included into the study. The medical records of the patients were reviewed to analyze the clinical features and functional results of the patients. RESULTS: Of the 12 lipomas, 5 were localized in the proximal arm, 4 in the forearm, 1 in the distal arm, 1 in the distal thigh and 1 in the distal tibia. All patients presented with a progressive, slow-growing mass that was associated with thumb extension weakness in 1 case, and brachialgia-like symptoms in 1 case. Plain radiographs showed a juxtacortical mass in all cases and irregular ossification in 3 cases. In all cases, marginal excision was performed and no clinical recurrence was observed after a mean follow-up of 16 months. CONCLUSION: Parosteal lipomas are uncommon tumors that can be diagnosed with their characteristic radiological features. Parosteal lipomas occurring in the proximal radius may easily cause paralysis of the posterior interosseous nerve or muscle weakness. LEVEL OF EVIDENCE: Level IV, Therapeutic study.

Complex Truncal Masses in the Setting of CLOVES Syndrome: Aesthetic and Functional Implications.

BACKGROUND: Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal abnormalities (CLOVES) is a complex overgrowth syndrome with dramatic aesthetic and functional implications. The truncal masses characteristic of CLOVES syndrome are described as vascular malformations or lipomatous lesions with variable vascular components. Herein, we describe our single-institution experience with surgical excision of CLOVES-related truncal masses and discuss future directions in treatment of these complex anomalies. METHODS: A single-institution retrospective review was performed for patients diagnosed with CLOVES syndrome. Patients undergoing excision of truncal vascular malformations were included. Outcome measures included perioperative characteristics [estimated blood loss (EBL), specimen size/anatomic location, blood-product requirement], as well as length-of-stay [LOS], and complication profile. Mean follow-up was 23.4 months (range 4.2-44). RESULTS: Three consecutive patients were reviewed, accounting for 4 surgical operations. One patient underwent two operations for two distinct masses. All lesions were located on the upper back or flank with various degrees of muscular involvement. One patient required no transfusions with an uneventful 2-day hospitalization. The remaining three patients had an EBL ranging from 1500 to 6450 mL, requiring 9-13 units of packed red blood cells and 5-8 units of fresh frozen plasma during LOS (averaging 5 days). Mean weight of resected masses was 6.26 lbs (range 2.04-12 lbs) and mass dimensions ranged between 1778.9 and 15,680 cm3. One patient with recurrence was subsequently treated with a combination of sclerotherapy and rapamycin, leading to significant mass reduction. CONCLUSIONS: Management of CLOVES syndrome requires a collaborative and multimodal approach. Although surgical debulking is one treatment option, non-invasive medical modalities and sclerotherapy should be considered prior to surgical resection. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Adipose-Derived Stromal Cells from Lipomas: Isolation, Characterisation and Review of the Literature.

OBJECTIVE: The aim of this study was to characterize adipose-derived stromal cells (ADSCs) from patients diagnosed with multiple symmetric lipomatosis (MSL) in order to obtain potentially new insights into the pathophysiology, pathogenesis and treatment of this disease. METHODS: Cells from the stromal vascular fraction were analysed by the colony-forming efficiency assay and flow cytometry using standard markers. Moreover, the power of adipogenic plasticity was evaluated. Finally, a literature review was performed from 1982 to 2015 using the US National Institutes of Health's PubMed database. RESULTS: Three European-descent patients diagnosed with either MSL type I or II could be identified for analysis. The resulting mean colony-forming efficiency assay was 14.3 ± 5%. Flow-cytometric analysis of the ADSCs revealed high levels of CD34 (70 ± 9%), CD45 (37 ± 13%) and CD73 (55.8 ± 14%), whereas low levels of CD31 (16.8 ± 14%) and CD105 (5.8 ± 0.7%) were detected. Furthermore, ADSCs showed a strong adipogenic potential, which is in line with the literature review. The stem cell pool in lipoma shows several alterations in biological activities, such as proliferation, apoptosis and stemness. CONCLUSIONS: ADSCs from lipoma may be interesting in the application of regenerative medicine. We discuss possible molecular treatment options to regulate their activities at the source of the MSL.

Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome.

Nasopalpebral lipoma-coloboma syndrome (NPLCS, OMIM%167730) is an uncommon malformation entity with autosomal dominant inheritance characterized by the combination of nasopalpebral lipoma, colobomas in upper and lower eyelids, telecanthus, and maxillary hypoplasia. To date, no genetic defects have been associated with familial or sporadic NPLCS cases and the etiology of the disease remains unknown. In this work, the results of whole exome sequencing in a sporadic NPLCS patient are presented. Exome sequencing identified a de novo heterozygous frameshift dinucleotide insertion c.6245_6246 insTT (p.His2082fs*67) in ZDBF2 (zinc finger, DBF-type containing 2), a gene located at 2q33.3. This variant was absent in parental DNA, in a set of 300 ethnically matched controls, and in public exome variant databases. This is the first genetic variant identified in a NPLCS patient and evidence supporting the pathogenicity of the identified mutation is discussed. © 2016 Wiley Periodicals, Inc.

Development of intraspinal ectopic endometrial tissue in connection with tethered cord syndrome.

We herein report a rare case of intraspinal ectopic endometrial tissue associated with tethered cord syndrome. The patient underwent MR imaging of the lumbar spine and CT spinal angiography. Asymptomatic dysraphism was also detected, including spinal bifida, low-lying conus medullaris, spinal meningocele and a lumbosacral lipoma. Venous reflux obstruction was also suggested. The patient underwent L2-S1 laminectomy and microdecompression of the lesion. The histological and immunohistochemical features were characteristic of ectopic endometrial tissue. Since the surgery, no neurological signs have been noted, either during or outside the patient's menstrual periods. The two-month follow-up MRI scans showed a regression of the lesion.

Spontaneous improvement in urological dysfunction in children with congenital spinal lipomas of the conus medullaris.

Congenital spinal lipomas of the conus (SLCs) are among the most common closed neural tube defects. The treatment of SLC is an area of controversy because the true natural history of this condition is unknown. Here, the authors present two cases of SLC presenting in infancy with compromised lower urinary tract function, which was objectively confirmed by abnormal urodynamic studies. In both cases, there was spontaneous improvement in urodynamic parameters, with stable normal urinary function at the long-term follow-up. Although cases of spontaneous radiological regression of SLC have very infrequently been reported, they have not been associated with the reversal of already present neurological deficits. This report reinforces the need for further delineation of the true natural history of SLC and highlights the dynamic nature of associated neurological compromise over time.