Undifferentiated pleomorphic sarcoma with co-existence of KRAS/PIK3CA mutations.
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.
Department of Pathology, Shihezi University School of Medicine and The Key Laboratories for Xinjiang Endemic and Ethnic Diseases, Chinese Ministry of Education Shihezi 832002, Xinjiang, China.
Bingcheng
B
Li
Department of Pathology, The First Affiliated Hospital, Shihezi University School of Medicine Shihezi 832002, Xinjiang, China.
Li
L
Li
Department of Pathology, Shihezi University School of Medicine and The Key Laboratories for Xinjiang Endemic and Ethnic Diseases, Chinese Ministry of Education Shihezi 832002, Xinjiang, China.
Xiaoying
X
Li
Department of Pathology, Shihezi University School of Medicine and The Key Laboratories for Xinjiang Endemic and Ethnic Diseases, Chinese Ministry of Education Shihezi 832002, Xinjiang, China.
Yuanyuan
Y
Wang
Department of Pathology, Shihezi University School of Medicine and The Key Laboratories for Xinjiang Endemic and Ethnic Diseases, Chinese Ministry of Education Shihezi 832002, Xinjiang, China.
Yuwen
Y
Xie
Department of Pathology, Shihezi University School of Medicine and The Key Laboratories for Xinjiang Endemic and Ethnic Diseases, Chinese Ministry of Education Shihezi 832002, Xinjiang, China ; Department of Pathology, The First Affiliated Hospital, Shihezi University School of Medicine Shihezi 832002, Xinjiang, China.
Chunxia
C
Liu
Department of Pathology, Shihezi University School of Medicine and The Key Laboratories for Xinjiang Endemic and Ethnic Diseases, Chinese Ministry of Education Shihezi 832002, Xinjiang, China ; Department of Pathology, The First Affiliated Hospital, Shihezi University School of Medicine Shihezi 832002, Xinjiang, China.
Feng
F
Li
D000368:Aged; D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics*; D001706:Biopsy; D002454:Cell Differentiation; D058534:Class I Phosphatidylinositol 3-Kinases; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D059014:High-Throughput Nucleotide Sequencing; D051677:Histiocytoma, Malignant Fibrous / Q000201:enzymology / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D006801:Humans; D007150:Immunohistochemistry; D020125:Mutation, Missense; D010641:Phenotype; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics*; D016283:Proto-Oncogene Proteins p21(ras) / Q000235:genetics*; D012509:Sarcoma / Q000201:enzymology / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D012983:Soft Tissue Neoplasms / Q000201:enzymology / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D013848:Thigh
D014408:Biomarkers, Tumor; C117307:KRAS protein, human; D019869:Phosphatidylinositol 3-Kinases; D058534:Class I Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human; D016283:Proto-Oncogene Proteins p21(ras)
MassARRAY; Undifferentiated soft tissue sarcoma; mutations