scholarly journals FluorescenceIn SituHybridization forMDM2Amplification as a Routine Ancillary Diagnostic Tool for Suspected Well-Differentiated and Dedifferentiated Liposarcomas: Experience at a Tertiary Center

Sarcoma ◽  
2015 ◽  
Vol 2015 ◽  
pp. 1-10 ◽  
Author(s):  
Khin Thway ◽  
Jayson Wang ◽  
John Swansbury ◽  
Toon Min ◽  
Cyril Fisher
Keyword(s):  
Gene Amplification ◽  
Diagnostic Tool ◽  
Spindle Cell ◽  
Significant Group ◽  
Lipomatous Tumor ◽  
Tertiary Center ◽  
Benign Histology ◽  
Well Differentiated ◽  
Correlation Rate

Background. The assessment ofMDM2gene amplification by fluorescencein situhybridization (FISH) has become a routine ancillary tool for diagnosing atypical lipomatous tumor (ALT)/well-differentiated liposarcoma and dedifferentiated liposarcoma (WDL/DDL) in specialist sarcoma units. We describe our experience of its utility at our tertiary institute.Methods. All routine histology samples in whichMDM2amplification was assessed with FISH over a 2-year period were included, and FISH results were correlated with clinical and histologic findings.Results. 365 samples from 347 patients had FISH forMDM2gene amplification. 170 were positive (i.e., showedMDM2gene amplification), 192 were negative, and 3 were technically unsatisfactory. There were 122 histologically benign cases showing a histology:FISH concordance rate of 92.6%, 142 WDL/DDL (concordance 96.5%), and 34 cases histologically equivocal for WDL (concordance 50%). Of 64 spindle cell/pleomorphic neoplasms (in which DDL was a differential diagnosis), 21.9% showedMDM2amplification. Of the cases with discrepant histology and FISH, all but 3 had diagnoses amended following FISH results. For discrepancies of benign histology but positive FISH, lesions were on average larger, more frequently in “classical” (intra-abdominal or inguinal) sites for WDL/DDL and more frequently core biopsies. Discrepancies of malignant histology but negative FISH were smaller, less frequently in “classical” sites but again more frequently core biopsies.Conclusions. FISH has a high correlation rate with histology for cases with firm histologic diagnoses of lipoma or WDL/DDL. It is a useful ancillary diagnostic tool in histologically equivocal cases, particularly in WDL lacking significant histologic atypia or DDL without corresponding WDL component, especially in larger tumors, those from intra-abdominal or inguinal sites or core biopsies. There is a significant group of well-differentiated adipocytic neoplasms which are difficult to diagnose on morphology alone, in which FISH forMDM2amplification is diagnostically contributory.

Atypical Lipomatous Tumor/Well-Differentiated Liposarcoma With Features Mimicking Spindle Cell Lipoma

2019 ◽  
Vol 28 (3) ◽  
pp. 336-340 ◽  
Author(s):  
Judith A. S. Jebastin ◽  
Kyle D. Perry ◽  
Dhananjay A. Chitale ◽  
Michael P. Mott ◽  
Jessica Sanchez ◽  
...  
Keyword(s):  
Spindle Cell ◽  
Spindle Cell Lipoma ◽  
Rb1 Gene ◽  
Prognostic Features ◽  
Atypical Lipomatous Tumor ◽  
Lipomatous Tumor ◽  
Well Differentiated ◽  
Mdm2 Amplification ◽  
Lipomatous Tumors

Atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDL) and spindle cell lipoma are lipomatous tumors with distinct clinical, molecular, and prognostic features. Although histological and immunophenotypic features can overlap between ALT/WDL and spindle cell lipoma, the oncogenesis and clinical behavior are markedly different. In borderline cases, molecular analysis for MDM2 or CDK4 amplification can aid in distinguishing ALT/WDL from spindle cell lipoma. Although dedifferentiated liposarcoma has been reported to harbor both MDM2 amplification and loss of the RB1 region, we are not aware of a reported RB1 loss in well-differentiated ALT/WDL. In this article, we present a 69-year-old woman with a lipomatous tumor in the gluteal region that histologically, immunohistochemically, and molecularly mimicked spindle cell lipoma (with positive immunohistochemical staining for CD34 and loss of the RB1 gene region), yet harbored amplification of MDM2 and CDK4 confirmed by fluorescence in situ hybridization, supporting classification as ALT/WDL. This case strengthens the argument that in atypical clinical contexts, molecular studies for MDM2/CDK4 should be considered in tumors resembling spindle cell lipoma.

scholarly journals Dedifferentiated Liposarcoma Arising in an Esophageal Polyp: A Case Report

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Jorge Torres-Mora ◽  
Ann Moyer ◽  
Mark Topazian ◽  
Jeffrey Alexander ◽  
Tsung-Teh Wu ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Case Report ◽  
Fluorescence In Situ Hybridization ◽  
Gene Amplification ◽  
Dedifferentiated Liposarcoma ◽  
Well Differentiated

Liposarcoma is one of the most common sarcomas in adults, but only rarely presents as an esophageal primary. There have been several reports of well-differentiated liposarcoma (WDL) arising in the esophagus, but we present a case of dedifferentiated liposarcoma (DL) presenting as a large esophageal polyp. We believe this is the first reported case of DL of the esophagus with morphologic evidence of both well-differentiated and dedifferentiated components. The diagnosis was confirmed by demonstration of CPM gene amplification by fluorescence in situ hybridization (FISH).

Spindle Cell Lipoma with Ossification Mimicking Atypical Lipomatous Tumor/Well-Differentiated Liposarcoma: A Case Report

2021 ◽  
pp. 106689692110557
Author(s):  
Jiro Ichikawa ◽  
Tomonori Kawasaki ◽  
Hiroki Imada ◽  
Atsushi Enomoto ◽  
Naofumi Taniguchi ◽  
...  
Keyword(s):  
Spindle Cell ◽  
Final Diagnosis ◽  
Positive Staining ◽  
Cyclin Dependent Kinase ◽  
Spindle Cell Lipoma ◽  
Osteoid Tissue ◽  
Well Differentiated ◽  
Atypical Lipomatous Tumors ◽  
Lipomatous Tumors

Although spindle cell lipoma (SCL) is a subtype of lipoma, the characteristics of SCL are observed in both lipomatous and non-lipomatous tumors. In this article, we present a case of SCL with ossification mimicking atypical lipomatous tumors/well-differentiated liposarcomas (ALTs/WDLs). Considering the findings of magnetic resonance imaging and needle biopsy, which exhibited ALTs/WDLs, marginal resection was performed. Histopathological findings demonstrated mature adipocytes and spindle cells without atypia and no malignant osteoid tissue in the ossified region. In addition, immunohistochemistry (IHC) showed positive staining for CD34, heterogeneous retinoblastoma protein deficiency, and negative staining for mouse double minute 2 homolog (MDM2) and cyclin-dependent kinase. Fluorescence in-situ hybridization showed negative amplification of MDM2. The final diagnosis of the tumor was established using IHC as an extremely rare SCL with ossification.

PALMAR WELL DIFFERENTIATED SPINDLE CELL LIPOSARCOMA: PRESENTATION OF A RARE TUMOR AT A RARE SITE

Hand Surgery ◽  
2013 ◽  
Vol 18 (01) ◽  
pp. 115-120 ◽  
Author(s):  
Sanjay D. Deshmukh ◽  
Harveen K. Gulati ◽  
Prashant Yadav ◽  
Pooja Naik
Keyword(s):  
World Literature ◽  
Spindle Cell ◽  
Soft Tissue Sarcomas ◽  
Low Grade ◽  
Aggressive Approach ◽  
Lipomatous Tumor ◽  
Synovial Sarcomas ◽  
Rare Site ◽  
Aggressive Tumors ◽  
Well Differentiated

The most common soft tissue sarcomas of hand are epitheloid sarcomas, synovial sarcomas and malignant fibrous histiocytomas which are high grade, aggressive tumors. Liposarcomas of the hand are extremely rare and to the best of our knowledge less than 20 cases have been reported so far in the literature. Well differentiated spindle cell liposarcoma is an extremely rare subtype of well differentiated liposarcoma/atypical lipomatous tumor which is different from the other subtypes clinicopathologically, genetically and prognostically. Palmar localization of this rare variant of liposarcoma at this site makes ours only the second case reported in the world literature so far. This recently described entity is low grade lesion and the hand surgeons need to adopt a less aggressive approach in the treatment of this subtype.

Cytologic evidence for gene amplification in methotrexate-resistant cells obtained from a patient with ovarian adenocarcinoma.

1984 ◽  
Vol 2 (1) ◽  
pp. 8-15 ◽  
Author(s):  
J M Trent ◽  
R N Buick ◽  
S Olson ◽  
R C Horns ◽  
R T Schimke
Keyword(s):  
Gene Amplification ◽  
Gene Dosage ◽  
Dhfr Gene ◽  
Ovarian Adenocarcinoma ◽  
Serous Adenocarcinoma ◽  
Ovarian Serous Adenocarcinoma ◽  
Colony Forming Units ◽  
Well Differentiated ◽  
Free Media

To analyze if methotrexate (MTX) resistance arises from gene amplification in a patient treated clinically with MTX, the cytogenetic and drug sensitivity profile of the tumor colony forming units (TCFUs) from a 58-year-old woman with stage III well-differentiated ovarian serous adenocarcinoma was studied. This patient had not received treatment directed against her tumor for nine months before this study, but had received oral-dose MTX (2.5 mg, twice weekly) for three years for the treatment of psoriasis. Analysis of TCFUs grown in nucleoside-free media demonstrated MTX resistance at concentrations of up to 100 micrograms/mL (2.2 X 10(-4)M). Cytologic evidence for dihydrofolate reductase (DHFR) gene amplification in TCFUs was determined by in situ hybridization, using radiolabeled cDNA to DHFR mRNA. Results localized the DHFR sequences to an abnormally staining region present on chromosome 4q. This study supports the notion that alterations in gene dosage (that is, gene amplification) play a role in the development of drug resistance in spontaneous human cancers.

“Fat-Rich” (Spindle Cell-Poor) Variant of Atypical Spindle Cell/Pleomorphic Lipomatous Tumor: Striking Mimic of “Classical” Atypical Lipomatous Tumor/Well-Differentiated Liposarcoma

2019 ◽  
Vol 27 (8) ◽  
pp. 868-871 ◽  
Author(s):  
David Creytens ◽  
Thomas Mentzel ◽  
Liesbeth Ferdinande ◽  
Joost van Gorp ◽  
Jo Van Dorpe ◽  
...  
Keyword(s):  
Spindle Cell ◽  
Molecular Genetic ◽  
Low Grade ◽  
Tissue Mass ◽  
Atypical Lipomatous Tumor ◽  
Lipomatous Tumor ◽  
Multinucleated Cells ◽  
Pericytic Mimicry ◽  
Well Differentiated ◽  
The Right

We report the case of a “fat-rich” (spindle cell-poor) variant of an atypical spindle cell/pleomorphic lipomatous tumor in a 63-year-old female patient presenting with a firm, painless soft tissue mass on the right hip. Atypical spindle cell/pleomorphic lipomatous tumor is a very recently described low-grade adipocytic neoplasm, which occurs predominantly in adults with a predilection for the limbs and limb girdles. In the present case, the diagnosis of an atypical spindle cell/pleomorphic lipomatous tumor was challenging because the tumor was almost exclusively composed of an atypical adipocytic component (resembling “classical” atypical lipomatous tumor/well-differentiated tumor) with only very focal presence of the diagnostic atypical morphologic features (atypical spindle-shaped cells, floret-like multinucleated cells, and “bizarre” pleomorphic [multinucleated] cells). The possibility of a “classical” atypical lipomatous tumor/well-differentiated liposarcoma was ruled out by immunohistochemistry (lack of MDM2 expression and loss of Rb expression) and molecular genetic testing (no amplification of MDM2 and presence of monoallelic deletion of RB1). Another interesting morphologic observation in this case was the striking perivascular location of the atypical spindle/pleomorphic cells in some areas (so-called “pericytic mimicry”). To our knowledge, pericytic mimicry has not been reported in the setting of an atypical spindle cell/pleomorphic lipomatous tumor.

scholarly journals Fluorescence in situ hybridization for MDM2 gene amplification as a diagnostic tool in lipomatous neoplasms

2008 ◽  
Vol 21 (8) ◽  
pp. 943-949 ◽  
Author(s):  
Joshua Weaver ◽  
Erinn Downs-Kelly ◽  
John R Goldblum ◽  
Sondra Turner ◽  
Sucheta Kulkarni ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Gene Amplification ◽  
Diagnostic Tool ◽  
Mdm2 Gene

A PILOT STUDY OF HER-2/NEU GENE AMPLIFICATION ASSESSED BY FLUORESCENCE IN SITU HYBRIDIZATION (FISH) IN GASTRIC CANCER

2014 ◽  
pp. 15-20
Author(s):  
Van Huy Tran ◽  
Thi Minh Thi Ha ◽  
Trung Nghia Van ◽  
Viet Nhan Nguyen ◽  
Phan Tuong Quynh Le ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Cancer Patients ◽  
Gene Amplification ◽  
Cancer Tissue ◽  
Tissue Samples ◽  
Her 2 ◽  
Gastric Cancer Patients

Background: HER-2/neu is a predictive biomarker for treatment of gastric cancer using trastuzumab in combination with chemotherapy. This study aimed to evaluate the status of HER-2/neu gene amplification using fluorescence in situ hybridization (FISH) in gastric cancer. Patients and methods: thirty six gastric cancer patients were assessed HER-2/neu gene amplification by FISH using PathVysionTM HER-2 DNA Probe kit (including HER-2/neu probe and CEP-17 probe) with biopsy and surgical specimens. Results: The HER-2/neu gene amplification was observed in three cases (8.3%), the HER-2/neu gene amplification rate in Lauren’s intestinal-type and diffuse-type were 11.8% and 5.2%, respectively. Conclusion: We applied successfully FISH technique with gastric cancer tissue samples. This technique could be performed as routine test in gastric cancer in order to select patients that benefit from trastuzumab in combination with chemotherapy.

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