1.Clinical value of fluorescence in situ hybridization with MDM2 and DDIT3 probe in diagnosis of liposarcoma.
Wei WANG ; Xin LI ; Ping LIU ; Ying DONG
Journal of Peking University(Health Sciences) 2023;55(2):228-233
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*
2.Myxiod pleomorphic liposarcoma: a clinicopathological and molecular genetic analysis of six cases.
Xin Chun ZHENG ; Hai Jian HUANG ; Zhi Jie YOU ; Jie LIN ; Xiao Yan CHEN ; Dingrong ZHONG
Chinese Journal of Pathology 2022;51(8):738-742
Objective: To investigate the clinicopathologic and molecular genetic characteristics of myxoid pleomorphic liposarcoma (MPLPS). Methods: Six cases of MPLPS diagnosed and consulted in Fujian Provincial Hospital from 2015 to 2021 were collected for histomorphological observation, immunohistochemistry, and fluorescence in situ hybridization (FISH) detection of DDIT3 (CHOP) gene translocation and MDM2/CDK4 gene amplification. Results: There were four males and two females, aged 26-74 years (mean 53.8 years). The tumor size was 3.8-16.0 cm (mean 11.8 cm). All six cases had similar histopathologic features, showing overlapping histologic morphology of myxoid liposarcoma and pleomorphic liposarcoma. Four cases (4/6) were positive for S-100 protein, and the Ki-67 index was 50%-95%. All cases (6/6) were negative for DDIT3 (CHOP) translocation and MDM2/CDK4 amplification by FISH. TP53 (p.R248w) germline mutation was found in one case. Conclusions: MPLPS is a rare subtype of liposarcoma, characterized by overlapping morphology of myxoid liposarcoma and pleomorphic liposarcoma. Genetically, a few of them have TP53 gene germline mutations, but they lack of DDIT3 (CHOP) translocation or MDM2/CDK4 amplification.
Female
;
Humans
;
Immunohistochemistry
;
In Situ Hybridization, Fluorescence
;
Liposarcoma/pathology*
;
Liposarcoma, Myxoid/diagnosis*
;
Male
;
Molecular Biology
;
Proto-Oncogene Proteins c-mdm2/genetics*
;
Translocation, Genetic
4.PET/CT imaging manifestations of different pathological subtypes of liposarcoma.
Jianlan FU ; Fahuan SONG ; Aiping CHENG
Journal of Zhejiang University. Medical sciences 2019;48(2):193-199
OBJECTIVE:
To analyze PET/CT imaging manifestations of different pathological subtypes of liposarcoma.
METHODS:
The F-fluorodeoxyglucose(FDG) PET/CT features of 13 patients pathologically confirmed as liposarcoma were retrospectively reviewed. The metabolism degree and distribution of different subtypes of liposarcoma were compared.
RESULTS:
The well-differentiated liposarcoma showed fat density mass with septa and irregular strip with mild FDG uptake. The myxoid liposarcoma showed cystic or cystic solid mass, single or multiple with mild-moderate FDG uptake heterogeneously or homogeneously. The dedifferentiated liposarcoma showed mixed soft tissue mass with high FDG uptake heterogeneously, larger lesion with necrosis centrally. The mixed type contained well differentiated type and dedifferentiated type, and showed multiple lesion with combined imaging manifestations. There were local invasions in 12 cases, no lymph node matastasis, and the recurrence of dedifferentiated liposarcoma with lung metastasis in 1 case. The maximum standard values (SUVmax) of FNCCLE grade G1, G2 and G3 liposarcoma were 3.00, 5.67 and 10.33, respectively; there was significant difference between G1 and G3 groups, G2 and G3 groups (all <0.05).
CONCLUSIONS
PET/CT manifestations of liposarcoma of various pathological subtypes are different. Preoperative PET/CT examination can clarify the pathological types, scope of tumor invasion and metastasis of liposarcoma, which provides more information for clinical decision-making and is helpful for the preparation of surgical plan.
Humans
;
Liposarcoma
;
classification
;
diagnostic imaging
;
pathology
;
Neoplasm Recurrence, Local
;
Positron Emission Tomography Computed Tomography
;
Retrospective Studies
;
Tomography, X-Ray Computed
5.Epididymal liposarcoma with metastases to the retroperitoneal space and peritoneal cavity: A case report and literature review.
National Journal of Andrology 2017;23(12):1103-1106
Objective:
To report a rare case of epididymal liposarcoma with multiple metastases to the retroperitoneal space and peritoneal cavity for the purpose of improving the diagnosis and treatment of the disease.
METHODS:
We retrospectively analyzed the clinical data about a case of epididymal liposarcoma with multiple metastases to the retroperitoneal space and peritoneal cavity, reviewed relevant literature at home and abroad, and investigated the presentation, diagnosis and treatment of the disease.
RESULTS:
A 47-year-old male patient with epididymal liposarcoma underwent radical left orchiectomy with high ligation of the spermmatic cord. Ten years later, recurrence and metastasis were observed in the retroperitoneal space with a mass of 15.6 × 9.4 × 25.5 cm occupying an area from the upper pole of the left kidney to the pelvic cavity and enclosing the left kidney and upper ureter, for which the patient received radical resection of the retroperitoneal tumor. However, multiple retroperitoneal and intraperitoneal metastases occurred again 4 years later, which was treated by another surgical resection. The patient died of lung failure a year later.
CONCLUSIONS
Epididymal liposarcoma is a rare entity, which can be diagnosed by careful clinical and radiological examinations and confirmed by pathology. For its treatment, radical inguinal orchiectomy should be performed as early as possible, but the roles of adjuvant radiotherapy and chemotherapy remain controversial. Given the high rate of recurrence and metastasis, long-term follow-up is necessitated for the patient postoperatively.
Epididymis
;
pathology
;
Genital Neoplasms, Male
;
pathology
;
Humans
;
Kidney
;
Liposarcoma
;
pathology
;
secondary
;
Male
;
Middle Aged
;
Neoplasm Recurrence, Local
;
Orchiectomy
;
Peritoneal Cavity
;
Peritoneal Neoplasms
;
secondary
;
Retroperitoneal Neoplasms
;
secondary
;
Retroperitoneal Space
6.A Case of Pleomorphic Liposarcoma Originating from Mesentery.
Jin Young CHOI ; Ji Eun KIM ; Seung Min LEE ; Ho Jun KANG ; Ji Hee SUNG ; Byung Sung KOH ; Ju Sang PARK ; Il Dong KIM ; So Ya BAIK
The Korean Journal of Gastroenterology 2015;65(3):182-185
Liposarcoma is one of the most common soft tissue sarcomas that occurs in adults and is currently divided into five main subgroups: well-differentiated, myxoid, round cell, pleomorphic, and dedifferentiated. Primary mesenteric liposarcoma is extremely rare, and the treatment strategy is surgical resection with a wide free margin, often followed by radiation and adjuvant chemotherapy if distant metastasis is not detected. A 73-year-old male patient presented with lower abdominal distension. Abdominal CT scan revealed a large homogeneously enhancing mass lesion abutting the sigmoid colon and urinary bladder. At laparotomy, the solid mass measured 28x26x12 cm in size, was well-demarcated, and originated from the mesentery of the middle ileum. It was removed along with some small intestine (ileocecal valve upper 50-150 cm) and ileal mesentery because of adhesion. Histologically, the tumor proved to be pleomorphic liposarcoma. The patient did not undergo any adjuvant treatment following surgery, but he remains disease free until 33 months after surgery. Herein, we report a case of pleomorphic liposarcoma arising from small bowel mesentery.
Aged
;
Humans
;
Liposarcoma/*diagnosis/pathology/surgery
;
Male
;
Mesentery/*pathology
;
Peritoneal Neoplasms/*diagnosis/pathology/surgery
;
Tomography, X-Ray Computed
7.Occurrence of colonic liposarcoma after retroperitoneal liposarcoma.
Jin Hwa CHOI ; In Gyu HWANG ; Seong Jae CHA ; Tae Jin LEE ; Joung Soon JANG
The Korean Journal of Internal Medicine 2015;30(1):125-128
No abstract available.
Aged
;
Biopsy
;
Chemotherapy, Adjuvant
;
Colectomy
;
Colonic Neoplasms/*pathology/therapy
;
Humans
;
Liposarcoma/*pathology/therapy
;
Male
;
Neoplasms, Second Primary/*pathology/therapy
;
Radiotherapy, Adjuvant
;
Retroperitoneal Neoplasms/*pathology/therapy
;
Time Factors
;
Tomography, X-Ray Computed
;
Treatment Outcome
8.Diagnoses and Approaches of Soft Tissue Tumors for Orthopaedic Non-Oncologists.
The Journal of the Korean Orthopaedic Association 2015;50(4):269-279
Soft tissue tumors are classified into benign and malignant on the basis of the patient's age, medical history, physical examination, pathological and radiologic examination. We have to caution against misdiagnosis of malignant tumor which can delay the treatment time. Lipoma, schwannoma, hemangioma, and ganglion cysts are common benign tumors, usually of small size and are often located in the superficial layer. Although it may be suspected as a benign tumor, performing contrast-enhanced magnetic resonance maging is preferably advantageous. Liposarcoma and undifferentiated pleomorphic sarcoma, the most common malignant soft tissue tumors, usually occur after middle age; rhabdomyosarcoma is usually presented in children and synovial sarcoma often occurs at a younger age. The magnetic resonance (MR) signal intensity of lipoma shows uniformity with subcutaneous fat, sarcoma should be suspected if it has a contrast-enhanced and non-fat-suppressed part. The MR signals of ganglion cysts show homogeneous and same signal intensity with joint fluid and urine, while the liquid containing sarcoma, like synovial sarcoma, is characterized by heterogeneous signal intensity and contrast enhancement. If surgery is performed, an incision should be made in the longitudinal direction of the limb and the excised tumor should be sent for pathology analysis. When the macroscopic finding of the tumor during surgery is different from the expected diagnosis, the operation should cease with biopsy only or the small superficial tumor can be excised widely if possible. The transfer should be considered unless you can be sure of a benign tumor in hands and feet of children. When diagnosed as malignant tumors, patients should be provided with sufficient information that can lead them to a musculoskeletal tumor specialist.
Biopsy
;
Child
;
Diagnosis*
;
Diagnostic Errors
;
Extremities
;
Foot
;
Ganglion Cysts
;
Hand
;
Hemangioma
;
Humans
;
Joints
;
Lipoma
;
Liposarcoma
;
Middle Aged
;
Neurilemmoma
;
Pathology
;
Physical Examination
;
Rhabdomyosarcoma
;
Sarcoma
;
Sarcoma, Synovial
;
Specialization
;
Subcutaneous Fat
9.Histopathological and imaging features for soft tissue liposarcoma of extremities.
Journal of Central South University(Medical Sciences) 2015;40(8):928-933
OBJECTIVE:
To analyze the histopathological and imaging features for soft tissue liposarcoma of extremities and to provide guide for clinical diagnosis.
METHODS:
Nine patients with soft tissue liposarcoma of extremities received treatment in Qinghai University Affiliated Hospital from October 2012 to October 2014. The imaging features of CT and MRI as well as the histopathological features were retrospectively analyzed. The pattern, size and border of tumor were observed, and the correlation between the pathological features and the imaging features was analyzed.
RESULTS:
Lower limb lesion was found in 8 patients, including the left lower leg, left and right thigh, respectively. One patient had right upper arm lesion, 1 case had bleeding, and 1 case displayed with calcification and liquefaction performance. The CT examination showed low density shadow and linear separated shadow. The ultrasound examination displayed different intensity fat-like echo. There was short signal intensity on T1 weighted imaging and long signal intensity on T2 weighted imaging in MRI.
CONCLUSION
MRI and other imaging examinations show good performance in detecting the features of soft tissue liposarcoma of extremities, which possess diagnostic value.
Humans
;
Liposarcoma
;
diagnosis
;
pathology
;
Magnetic Resonance Imaging
;
Retrospective Studies
;
Soft Tissue Neoplasms
;
diagnosis
;
pathology
;
Tomography, X-Ray Computed
10.Diagnostic value of ultrasound-guided core needle biopsy for soft tissue tumors.
Jia NA ; Zhi-wei FANG ; Ai-lian ZHAO ; Ji-you LI
Chinese Journal of Pathology 2013;42(3):158-162
OBJECTIVETo study the diagnostic value and pitfalls of ultrasound-guided core needle biopsy (CNB) of soft tissue tumors.
METHODSOne hundred and six cases of CNB specimens encountered during the period from 2007 to 2012 were enrolled into the study. The pathologic diagnosis using CNB was compared with that using surgical specimens. Diagnostic accuracy was analyzed using Chi-square test, with respect to the histologic pattern (such as spindle cell and myxoid), biologic behavior (benign versus malignant) and immunohistochemical results. The 59 cases of sarcoma were subdivided into three grades according to FNCLCC grading system.
RESULTSHistologic diagnosis could be made in 84.0% (89/106) cases. Thirteen cases were non-diagnostic on CNB. There were 4 cases on CNB showing diagnostic discrepancy with surgical specimens. Four cases of "benign lesions" on CNB found to be myxoid liposarcoma and lipoma-like liposarcoma upon resection. In general, myxoid pattern (9/17) seen on CNB showed less diagnostic correlation with surgical specimens, as compared to spindle cell and other histologic patterns (P < 0.01). The rate of diagnostic correlation was 79.7% (49/59) for the 59 cases of sarcoma studied, with grade 2 and grade 3 sarcoma showing better correlation (in contrast to 7/17 for grade 1 sarcoma) (P < 0.01). Comparative analysis showed no significant difference between benign/borderline tumors and sarcomas. The application of immunohistochemical study did not result in significant improvement in diagnostic accuracy on CNB.
CONCLUSIONSUltrasound-guided CNB is a reliable tool in pathologic diagnosis of soft tissue tumors and shows a high accuracy rate especially for high-grade sarcoma. Tumors with myxoid pattern, lipomatous tumors and grade 1 sarcomas are associated with lower diagnostic accuracy on CNB. Correlation with clinicoradiologic findings would also be helpful in diagnostic evaluation and surgical planning.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Biopsy, Large-Core Needle ; methods ; Diagnostic Errors ; Extremities ; Female ; Humans ; Liposarcoma, Myxoid ; diagnosis ; diagnostic imaging ; pathology ; Male ; Middle Aged ; Neoplasm Grading ; Sarcoma ; diagnosis ; diagnostic imaging ; pathology ; Soft Tissue Neoplasms ; diagnosis ; diagnostic imaging ; pathology ; Ultrasonography, Interventional ; methods ; Young Adult

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