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David Suster1, Shira Ronen2, Jess F Peterson2

  • 1Beth Israel Deaconess Medical Center, Department of Pathology, Harvard Medical School, Boston, MA, 02215.

Human Pathology
|March 3, 2019
PubMed
Summary
This summary is machine-generated.

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Sarcomatoid renal cell carcinoma (RCC) can mimic soft tissue sarcomas. MDM2 pathway alterations, including gene amplification, are frequent and may lead to misdiagnosis, impacting treatment decisions.

Area of Science:

  • Oncology
  • Pathology
  • Genetics

Background:

  • Sarcomatoid renal cell carcinoma (RCC) is an aggressive cancer.
  • Its metastases can be misdiagnosed as soft tissue sarcomas.
  • Diagnostic challenges arise from similar marker expression.

Purpose of the Study:

  • To investigate MDM2 pathway alterations in sarcomatoid RCC.
  • To assess MDM2 immunohistochemistry and gene amplification.
  • To evaluate diagnostic pitfalls in metastatic lesions.

Main Methods:

  • Analyzed 49 sarcomatoid RCC cases.
  • Used immunohistochemistry for MDM2 expression.
  • Employed fluorescence in situ hybridization for MDM2 amplification and polysomy 12.
Keywords:
FISHMDM2 AmplificationRCCRenalSarcomatoid

Related Experiment Videos

Main Results:

  • MDM2 gene amplification found in 10% of cases.
  • Polysomy 12 detected in 10% of cases.
  • Nuclear MDM2 expression observed in 61% of cases, higher in metastases (78%).

Conclusions:

  • MDM2 pathway alterations are common in sarcomatoid RCC.
  • MDM2 expression/amplification can mimic dedifferentiated liposarcoma.
  • Panel testing and awareness of MDM2 alterations are crucial for accurate diagnosis and potential therapy.