Undifferentiated pleomorphic sarcoma with co-existence of KRAS/PIK3CA mutations

Int J Clin Exp Pathol. 2015 Jul 1;8(7):8563-7. eCollection 2015.

Abstract

Undifferentiated pleomorphic sarcoma (UPS), previously known as malignant fibrous histiocytoma, comprises a series of high-grade soft tissue sarcomas, which fail to exhibit any specific line of differentiation by using currently available ancillary techniques. Studies on gene mutation screening occurring in UPS are rarely conducted. In this study, we described a case of UPS and analyzed its mutation changes. We detected 19 hotspot oncogenes in the case. To the best of our knowledge, this study is the first to use a high-throughput OncoCarta panel 1.0 and MassARRAY system to detect 238 known mutations in 19 hotspot oncogenes in UPS. In this study, our result revealed two missense mutations, namely, KRAS mutation (35G > A, G12D) and PIK3CA mutation (1636C > A, Q546K) in the case.

Keywords: MassARRAY; Undifferentiated soft tissue sarcoma; mutations.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Biomarkers, Tumor / analysis
  • Biomarkers, Tumor / genetics*
  • Biopsy
  • Cell Differentiation*
  • Class I Phosphatidylinositol 3-Kinases
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease
  • High-Throughput Nucleotide Sequencing
  • Histiocytoma, Malignant Fibrous / enzymology
  • Histiocytoma, Malignant Fibrous / genetics*
  • Histiocytoma, Malignant Fibrous / pathology*
  • Histiocytoma, Malignant Fibrous / surgery
  • Humans
  • Immunohistochemistry
  • Mutation, Missense*
  • Phenotype
  • Phosphatidylinositol 3-Kinases / genetics*
  • Proto-Oncogene Proteins p21(ras) / genetics*
  • Sarcoma / enzymology
  • Sarcoma / genetics*
  • Sarcoma / pathology*
  • Sarcoma / surgery
  • Soft Tissue Neoplasms / enzymology
  • Soft Tissue Neoplasms / genetics*
  • Soft Tissue Neoplasms / pathology*
  • Soft Tissue Neoplasms / surgery
  • Thigh

Substances

  • Biomarkers, Tumor
  • KRAS protein, human
  • Phosphatidylinositol 3-Kinases
  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CA protein, human
  • Proto-Oncogene Proteins p21(ras)