An Initially Painless Mass Indicative of Non-Atypical Lipomatous Tumor by MDM2 Amplification by Fish Found to be a Malignant Grade 3 Rhabdomyosarcoma

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.

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

International Journal of Surgical Pathology ◽

10.1177/1066896919884648 ◽

2019 ◽

Vol 28 (3) ◽

pp. 336-340 ◽

Cited By ~ 1

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.

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

Modern Pathology ◽

10.1038/modpathol.2012.90 ◽

2012 ◽

Vol 25 (10) ◽

pp. 1384-1396 ◽

Cited By ~ 29

Author(s):

Takeshi Kashima ◽

Dina Halai ◽

Hongtao Ye ◽

Sandra Nalini Hing ◽

David Delaney ◽

...

Keyword(s):

Atypical Lipomatous Tumor ◽

Lipomatous Tumor ◽

Satellite Sequences ◽

Mdm2 Amplification

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Atypical Lipomatous Tumor/Well-Differentiated Liposarcoma with Intramuscular Lipoma-Like Component of the Thigh

Case Reports in Surgery ◽

10.1155/2020/8846932 ◽

2020 ◽

Vol 2020 ◽

pp. 1-6

Author(s):

Chairat Burusapat ◽

Nuttadon Wongprakob ◽

Nutthapong Wanichjaroen ◽

Chatchai Pruksapong ◽

Kantang Satayasoontorn

Keyword(s):

Growth Pattern ◽

English Literature ◽

Atypical Lipomatous Tumor ◽

Lipomatous Tumor ◽

Large Size ◽

Intramuscular Lipoma ◽

Mesenchymal Neoplasm ◽

Infiltrative Growth Pattern ◽

Well Differentiated ◽

Painless Mass

Atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDLPS) is a locally aggressive mesenchymal neoplasm composed either entirely or partly of an adipocytic proliferation showing at least focal nuclear atypia in both adipocytes and stromal cells. ALT most frequently occurs in deep soft tissue of proximal extremities (thigh and buttock) and usually presents as a deep-seated, painless mass that can slowly attain a very large size, which is one of the most common sarcomas of extremity. In the patients who presented with deep-seated tumor, distinction between intramuscular lipoma and well-differentiated liposarcoma is important due to the differences in treatment and prognosis. However, atypical well-differentiated liposarcoma with intramuscular lipoma-like component of the thigh is extremely rare. Moreover, the infiltrative growth pattern or intramuscular component may lead to a misinterpretation as intramuscular lipoma on a small biopsy. We present an unusual case of a female who presented with symptomatic mass at the thigh which has rarely been reported in English literature as an infiltrative intramuscular lipoma-like growth pattern of well-differentiated liposarcoma. Therefore, preoperative diagnosis is necessary, and correlation with imaging studies is required when one encounters with a large deep-seated mass. Atypical lipomatous tumor or well-differentiated liposarcoma should be kept in mind in the patient who presents with abnormal thigh mass.

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Double minute chromosomes harboring MDM2 amplification in a pediatric atypical lipomatous tumor

Genes Chromosomes and Cancer ◽

10.1002/gcc.22754 ◽

2019 ◽

Author(s):

Bérengère Dadone‐Montaudié ◽

Fanny Burel‐Vandenbos ◽

Christine Soler ◽

Olivier Rosello ◽

Corinne Boyer ◽

...

Keyword(s):

Atypical Lipomatous Tumor ◽

Lipomatous Tumor ◽

Double Minute ◽

Mdm2 Amplification ◽

Double Minute Chromosomes

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A Case of Atypical Lipomatous Tumor of the Lower Leg

Nishi Nihon Hifuka ◽

10.2336/nishinihonhifu.78.379 ◽

2016 ◽

Vol 78 (4) ◽

pp. 379-381 ◽

Cited By ~ 1

Author(s):

Tatsuya OGAWA ◽

Shijima TAGUCHI ◽

Yoshio NAKAYAMA

Keyword(s):

Lower Leg ◽

Atypical Lipomatous Tumor ◽

Lipomatous Tumor

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NI-01 Usefulness of preoperative evaluation of glioma elasticity by the magnetic resonance elastography

Neuro-Oncology Advances ◽

10.1093/noajnl/vdaa143.054 ◽

2020 ◽

Vol 2 (Supplement_3) ◽

pp. ii12-ii13

Author(s):

Shinichiro Koizumi ◽

Kazuhiko Kurozumi

Keyword(s):

Elastic Modulus ◽

Magnetic Resonance ◽

Preoperative Evaluation ◽

Tumor Resection ◽

High Grade Glioma ◽

Magnetic Resonance Elastography ◽

Low Grade ◽

Intracranial Tumors ◽

Grade 3 ◽

Malignant Grade

Abstract Introduction: The elasticity of intracranial tumors is difficult to assess non-invasively because the lesion is surrounded by the skull. Therefore, intracranial tumors have not been verified before surgery in terms of elastic modulus. Magnetic resonance elastography (MRE) is an epoch-making method capable of non-invasively imaging the elasticity of internal organs. We have examined the elasticity of meningiomas and pituitary adenomas and reported their usefulness. This time, we measured the glioma elasticity and verified usefulness of MRE. Method: Twenty-four gliomas (mean age 51.8±15.7 years, male: female = 17: 7) who underwent tumor resection after MRE imaging from July 2017 to May 2020 were targeted. The average elasticity was measured as an evaluation of tumor elastic modulus by MRE. Gliomas were divided into a low-grade glioma group (LGG: Grade 1, 2) and a high-grade glioma group (HGG: Grade 3, 4). Then, a comparative statistical study was conducted. Results: The average values of the average elasticity of LGG group (9 cases) and HGG group (15 cases) were 1.8±0.8 kPa and 2.5±0.8 kPa, respectively. The average elasticity was significantly higher in the HGG group (p=0.023). In the ROC analysis, the cutoff value was 2.1 kPa (sensitivity 70%, specificity 70%). Therefore, it was suggested that the tumor is likely to be HGG when the average elasticity is 2.1 kPa or more. Discussion: The glioma elasticity by preoperative MRE was significantly higher in the HGG group. Based on actual surgical experience, the tumor seems to be hard in the HGG group, and it was judged to be consistent with this our MRE research. The preoperative evaluation of glioma elasticity by MRE was considered useful, and it might help in planning a surgical strategy considering malignant grade.

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MDM2 Amplified Sarcomas: A Literature Review

Diagnostics ◽

10.3390/diagnostics11030496 ◽

2021 ◽

Vol 11 (3) ◽

pp. 496

Author(s):

Raf Sciot

Keyword(s):

Suppressor Gene ◽

Negative Regulator ◽

Low Grade ◽

P53 Mutations ◽

Lipomatous Tumor ◽

Double Minute ◽

Genetic Features ◽

Murine Double Minute ◽

Well Differentiated ◽

Mdm2 Amplification

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.

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