OBJECTIVE: To investigate the value of using MDM2 amplification probe and DDIT3 dual-color, break-apart rearrangement probe fluorescence in situ hybridization (FISH) technique in the diagnosis of liposarcoma. METHODS: In the study, 62 cases of liposarcoma diagnosed in Peking University First Hospital from January 2015 to December 2019 were analysed for clinicopathological information. Of these 62 cases of liposarcoma, all were analysed for MDM2 amplification and 48 cases were analysed for DDIT3 rearrangement using a FISH technique. Our study aimed to evaluate the status of MDM2 and DDIT3 by FISH in liposarcoma and correlate it with diagnosis of different subtypes of liposarcoma. The subtypes of liposarcoma were classified according to the FISH results, combined with the relevant clinicopathological features. RESULTS: The patients aged 31-89 years (mean: 59 years) with a 1.75:1 male to female ratio. Histologically, there were 20 cases of atypical lipomatous tumour/well-differentiated liposarcoma (ALT/WDLPS), 26 cases of dedifferentiated liposarcoma (DDLPS), 13 myxoid liposarcoma (MLPS) and 3 pleomorphic liposarcoma (PLPS). Tumors with DDLPS (23/26) and WDLPS (8/20) were localized retroperitoneally, while both tumours of MLPS and PLPS were localized extra-retroperitoneally, and the difference of sites among the four subtypes of liposarcoma was statistically significant (P < 0.05). Histologically, varied mucoid matrix could be observed in the four subtypes of liposarcoma, and the difference was statistically significant (P < 0.05). MDM2 gene amplification was demonstrated in all cases of ALT/WDLPS and DDLPS (100%, 20/20 and 26/26 respectively); DDIT3 gene rearrangement was noted only in MLPS (100%, 13/13); most cases of DDLPS (96.2%, 25/26) and ALT/WDLPS (83.3%, 5/6, 6 cases selected for detection) demonstrated the picture of amplification of the DDIT3 telomeric tag. According to the instructions of DDIT3 break-apart rearrangement probe, the 5' telomere probe and 3' centromere probe spanned but did not cover the DDIT3 gene itself, on the contrary, the 5' telomere probe covered the CDK4 gene, while the DDIT3 and CDK4 gene were located adjacent to each other on chromosome, therefore, when the amplification signal appeared on the telomeric tag of the DDIT3 rearrangement probe, it indeed indicated the CDK4 gene amplification rather than the DDIT3 gene rearrangement. Then the 10 cases with DDIT3 telomeric tag amplification were selected for CDK4 and DDIT3 gene amplification probe FISH tests, and all the cases showed CDK4 gene amplification (100%, 10/10) and two of the 10 cases demonstrated co-amplification of CDK4 and DDIT3 (20%, 2/10); DDIT3 polysomy detected by DDIT3 gene rearrangement probe was found in 1 case of DDLPS and 2 cases of PLPS (66.7%, 2/3) with morphology of high-grade malignant tumour and poor prognosis. CONCLUSION Our results indicate that a diagnosis of different subtype liposarcoma could be confirmed based on the application of MDM2 and DDIT3 FISH, combined with clinicopathological findings. It is also noteworthy that atypical signals should be correctly interpreted to guide correct treatment of liposarcomas.
Male ; Female ; Humans ; In Situ Hybridization, Fluorescence/methods* ; Cyclin-Dependent Kinase 4/metabolism* ; Liposarcoma/pathology* ; Lipoma/pathology* ; Gene Amplification ; Transcription Factor CHOP/genetics* ; Proto-Oncogene Proteins c-mdm2/metabolism*

Objective: To investigate the clinicopathological characteristics, immunophenotype, molecular genetics and differential diagnoses of fibrocartilaginous lipomas which consist of adipose tissue, fibrocartilage and fibrous elements. Methods: The clinicopathological features, immunohistochemical profiles and molecular profiles in six cases of fibrocartilaginous lipomas diagnosed at Foshan Traditional Chinese Medicine Hospital, Fudan University Shanghai Cancer Center, the Fifth Affiliated Hospital of Zhengzhou University and the Fourth Affiliated Hospital of Harbin Medical University from January 2017 to February 2022 were included. The follow-up information, diagnosis and differential diagnoses were evaluated. Results: There were three males and three females with a median age of 53 years (range 36-69 years) at presentation. Tumors were located in the extremities, the head and neck region and trunk; and presented as painless masses that were located in the subcutaneous tissue or deep soft tissue. Grossly, three cases were well defined with thin capsule, one case was well circumscribed without capsule, two cases were surrounded by some skeletal muscle. The tumors were composed of fatty tissue with intermingled gray-white area. The tumors ranged from 1.50-5.50 cm (mean 2.92 cm). Microscopically, the hallmark of these lesions was the complex admixture of mature adipocytes, fibrocartilage and fibrous element in varying proportions; the fibrocartilage arranged in a nodular, sheet pattern with some adipocytes inside. Tumor cells had a bland appearance without mitotic activity. Immunohistochemical analysis using antibodies to SMA, desmin, S-100, SOX9, HMGA2, RB1, CD34, adipopholin was performed in six cases; the fibrocartilage was positive for S-100 and SOX9, adipocytes were positive for S-100, adipopholin and HMGA2; CD34 was expressed in the fibroblastic cells, while desmin and SMA were negative. Loss of nuclear RB1 expression was not observed. Other genetic abnormalities had not been found yet in four cases. Follow-up information was available in six cases; there was no recurrence in five, and one patient only underwent biopsy of the mass. Conclusions: Fibrocartilaginous lipoma is a benign lipomatous tumor with mature adipocytes, fibrocartilage and fibrous elements. By immunohistochemistry, they show the expression of fat and cartilage markers. No specific molecular genetics changes have been identified so far. Familiarity with its clinicopathological features helps the distinction from its morphologic mimics.
Male ; Female ; Humans ; Adult ; Middle Aged ; Aged ; Desmin/analysis* ; China ; Lipoma/pathology* ; Fibroblasts/pathology* ; S100 Proteins/analysis* ; Diagnosis, Differential ; Fibrocartilage/pathology* ; Biomarkers, Tumor/analysis*

Humans ; Lipoma/pathology* ; Immunohistochemistry

Arthritis, Gouty ; complications ; Epidural Space ; Humans ; Lipoma ; pathology ; Spinal Cord ; Spinal Cord Compression ; etiology

BACKGROUND: Hibernoma is a rare benign tumor of adults that is composed of multivacuolated adipocytes resembling brown fat cells. Hibernoma typically occurs in soft tissue, and intraosseous examples are very rare. Intraosseous hibernomas can radiologically mimic metastatic carcinoma and other tumorous conditions. METHODS: To collect the intraosseous hibernomas, we searched the pathologic database and reviewed the hematoxylin and eosin (H&E)–stained slides of bone biopsy samples performed to differentiate radiologically abnormal bone lesions from 2006 to 2016. A total of six intraosseous hibernoma cases were collected, and clinical and radiological information was verified from electronic medical records. H&E slide review and immunohistochemical staining for CD68, pan-cytokeratin, and S-100 protein were performed. RESULTS: Magnetic resonance imaging of intraosseous hibernomas showed low signal intensity with slightly hyperintense foci on T1 and intermediate to high signal intensity on T2 weighted images. Intraosseous hibernomas appeared as heterogeneous sclerotic lesions with trabecular thickening on computed tomography scans and revealed mild hypermetabolism on positron emission tomography scans. Histopathologically, the bone marrow space was replaced by sheets of multivacuolated, foamy adipocytes resembling brown fat cells, without destruction of bone trabeculae. In immunohistochemical analysis, the tumor cells were negative for CD68 and pan-cytokeratin and positive for S-100 protein. CONCLUSIONS: Intraosseous hibernoma is very rare. This tumor can be overlooked due to its rarity and resemblance to bone marrow fat. Pathologists need to be aware of this entity to avoid misdiagnosis of this rare lesion.
Adipocytes ; Adipocytes, Brown ; Adult ; Biopsy ; Bone Marrow ; Bone Neoplasms ; Diagnostic Errors ; Electronic Health Records ; Eosine Yellowish-(YS) ; Hematoxylin ; Humans ; Immunohistochemistry ; Lipoma* ; Magnetic Resonance Imaging ; Pathology ; Positron-Emission Tomography ; S100 Proteins

A 50-year-old Chinese man presented with abdominal pain associated with bloody mucoid stools, loss of appetite and weight loss. Contrast-enhanced computed tomography of the abdomen and pelvis revealed a colocolic intussusception secondary to a lipoma. The patient subsequently underwent a left hemicolectomy. Clinical and imaging findings of intussusception in adults are discussed in this article.
Colectomy ; Colonic Diseases ; complications ; diagnostic imaging ; pathology ; surgery ; Colonic Neoplasms ; diagnostic imaging ; Humans ; Intussusception ; complications ; diagnostic imaging ; pathology ; surgery ; Lipoma ; complications ; diagnostic imaging ; Male ; Middle Aged ; Singapore

A 54-year-old woman presented with a large mass on her right hand that was progressively enlarging over a period of a few years. She had cosmetic concerns about the enlarging mass and experienced interference with routine activity. Physical examination revealed a soft, mobile, non-tender, lobulated mass with well-defined margins. Magnetic resonance imaging showed the soft lump to be a lipomatous mass in the deep palmar space of the hand, which was subsequently surgically resected. The imaging features of deep palmar lipomas of the hand and other common benign lesions at this location are discussed.
Arteriovenous Malformations ; diagnostic imaging ; Female ; Hand ; diagnostic imaging ; pathology ; Hemangioma ; diagnostic imaging ; Humans ; Lipoma ; diagnosis ; diagnostic imaging ; Magnetic Resonance Imaging ; Middle Aged ; Soft Tissue Neoplasms ; diagnosis ; diagnostic imaging ; Tenosynovitis ; diagnostic imaging

STUDY DESIGN: Fifty patients surgically treated for tethered cord syndrome (TCS) were retrospectively studied at Liaquat National Hospital, Karachi from 2010 until 2014. PURPOSE: To assess the common presentations of TCS in our part of the world and the surgical outcome of the different presentations. OVERVIEW OF LITERATURE: TCS is a stretch-induced functional disorder of the spinal cord with its caudal part anchored by an inelastic structure, which results in characteristic symptoms and signs. Due to the variety of lesions and clinical presentations and the absence of high-quality clinical outcome data, the decision regarding treatment is difficult. METHODS: Fifty consecutive patients with TCS were reviewed retrospectively with a follow-up period of 12–48 months. The majority of the patients were 0-15 years of age with the mean age of 4 years. The presenting complaints and the associated pathologies were documented, and the patients were assessed using the new Karachi TCS severity scale for clinical assessment. RESULTS: Eighty five percent of the patients with thickened filum terminale improved. Sixty six percent of the patients with diastematomyelia, 60% with lipoma and only 46% with myelomeningocele showed clinical improvement postoperatively. Sixty two percent of the patients who presented with paraperesis improved following surgery while 37% remained stable and only one patient deteriorated. Back and leg pain improved in 93% of patients and 50% of patients with urinary impairment improved. CONCLUSIONS: Outcome of patients with TCS varies according to pathology and severity of symptoms. Diastematomyelia and thickened filum had the best outcome. The Karachi TCS severity scale is a valid tool for future studies.
Cauda Equina ; Follow-Up Studies ; Humans ; Leg ; Lipoma ; Meningomyelocele ; Neural Tube Defects* ; Pathology ; Retrospective Studies ; Spinal Cord ; Spine

Adult ; Bone Neoplasms ; diagnosis ; diagnostic imaging ; pathology ; Diagnosis, Differential ; Diaphyses ; diagnostic imaging ; pathology ; Humans ; Knee Joint ; diagnostic imaging ; pathology ; Lipoma ; diagnosis ; diagnostic imaging ; pathology ; Magnetic Resonance Imaging ; Male ; Radiography ; Tibia ; diagnostic imaging ; pathology

Arrested pneumatization of the sphenoid sinus is a developmental variant that is not always well recognized and is often confused with other pathologies associated with the skull base. This report describes the case of a patient referred for cone-beam computed tomography (CBCT) imaging for dental implant therapy. CBCT demonstrated a well-defined incidental lesion in the left sphenoid sinus with soft tissue-like density and sclerotic borders with internal curvilinear opacifications. The differential diagnoses included intraosseous lipoma, arrested pneumatization of the sphenoid sinus, chondrosarcoma, chondroid chordoma, and ossifying fibroma. The radiographic diagnosis of arrested pneumatization was based on the location of the lesion, its well-defined nature, the presence of internal opacifications, and lack of expansion. Gray-scale CBCT imaging of the area demonstrated values similar to fatty tissue. This case highlighted the fact that benign developmental variants associated with the skull base share similar radiographic features with more serious pathological entities.
Adipose Tissue ; Chondrosarcoma ; Chordoma ; Cone-Beam Computed Tomography ; Dental Implants ; Diagnosis ; Diagnosis, Differential ; Fibroma, Ossifying ; Humans ; Lipoma ; Pathology ; Skull Base* ; Sphenoid Sinus*