scholarly journals Sensitivity of MDM2 amplification and unexpected multiple faint alphoid 12 (alpha 12 satellite sequences) signals in atypical lipomatous tumor

2012 ◽  
Vol 25 (10) ◽  
pp. 1384-1396 ◽  
Author(s):  
Takeshi Kashima ◽  
Dina Halai ◽  
Hongtao Ye ◽  
Sandra Nalini Hing ◽  
David Delaney ◽  
...  
2020 ◽  
Vol 86 (9) ◽  
pp. 1208-1211
Author(s):  
Chase J. Wehrle ◽  
J. Will Daigle ◽  
Asad Ullah ◽  
Suash Sharma ◽  
Edmond F. Ritter ◽  
...  

Atypical spindle cell lipomatous neoplasm, also known as well-differentiated spindle cell liposarcoma, represents a newly discovered entity of adipocytic tumors. Recent research has shown this tumor variant to be more related to spindle cell lipoma, rather than the originally hypothesized atypical lipomatous tumor spectrum. Here we present a case of a 58-year-old man with a history of chronic lymphocytic leukemia with an enlarging mass on the posterior left shoulder, initially hypothesized to be a benign lipoma. However, magnetic resonance imaging showed a large, multiseptated, heterogeneous mass concerning for soft tissue sarcoma. After resection, pathologic analysis showed cells closely resembling spindle cell lipoma, with additional cellular and fascicular zones containing lipoblasts and mitotic figures. Molecular analysis showed no MDM2 amplification. This lack of amplification indicates this tumor is distinctly different from an atypical lipomatous tumor, which characteristically displays MDM2 amplification. However, tumor expression of RB1 was normal. The majority of atypical spindle cell lipomatous neoplasms are associated with RB1 deletions. We conclude that we have a unique example of an atypical spindle cell lipomatous tumor.


2019 ◽  
Vol 28 (3) ◽  
pp. 336-340 ◽  
Author(s):  
Judith A. S. Jebastin ◽  
Kyle D. Perry ◽  
Dhananjay A. Chitale ◽  
Michael P. Mott ◽  
Jessica Sanchez ◽  
...  

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.


Author(s):  
Bérengère Dadone‐Montaudié ◽  
Fanny Burel‐Vandenbos ◽  
Christine Soler ◽  
Olivier Rosello ◽  
Corinne Boyer ◽  
...  

2016 ◽  
Vol 78 (4) ◽  
pp. 379-381 ◽  
Author(s):  
Tatsuya OGAWA ◽  
Shijima TAGUCHI ◽  
Yoshio NAKAYAMA

Diagnostics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 496
Author(s):  
Raf Sciot

Murine Double Minute Clone 2, located at 12q15, is an oncogene that codes for an oncoprotein of which the association with p53 was discovered 30 years ago. The most important function of MDM2 is to control p53 activity; it is in fact the best documented negative regulator of p53. Mutations of the tumor suppressor gene p53 represent the most frequent genetic change in human cancers. By overexpressing MDM2, cancer cells have another means to block p53. The sarcomas in which MDM2 amplification is a hallmark are well-differentiated liposarcoma/atypical lipomatous tumor, dedifferentiated liposarcoma, intimal sarcoma, and low-grade osteosarcoma. The purpose of this review is to summarize the typical clinical, histopathological, immunohistochemical, and genetic features of these tumors.


2013 ◽  
Vol 40 (4) ◽  
pp. 379-384 ◽  
Author(s):  
Tariq Al-Zaid ◽  
Wei-Lien Wang ◽  
Dolores Lopez-Terrada ◽  
Dina Lev ◽  
Jason L. Hornick ◽  
...  

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