DNA methylation profiling for diagnosing undifferentiated sarcoma with capicua transcriptional receptor (CIC) alterations: International Journal of Molecular Sciences

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Undifferentiated soft tissue sarcomas are a group of diagnostically challenging tumors in the pediatric population. Molecular techniques are instrumental for the categorization and differential diagnosis of these tumors. A subgroup of recently identified soft tissue sarcomas with undifferentiated round cell morphology was characterized by Capicua transcriptional receptor (CIC) rearrangements. Recently, an array‐based DNA methylation analysis of undifferentiated tumors with small blue round cell histology was shown to provide a highly robust and reproducible approach for precisely classifying this diagnostically challenging group of tumors. We describe the case of an undifferentiated sarcoma of the abdominal wall in a 12‐year‐old girl. The patient presented with a voluminous mass of the abdominal wall, and multiple micro‐nodules in the right lung. The tumor was unclassifiable with current immunohistochemical and molecular approaches. However, DNA methylation profiling allowed us to classify this neoplasia as small blue round cell tumor with CIC alterations. The patient was treated with neoadjuvant chemotherapy followed by complete surgical resection and adjuvant chemotherapy. After 22 months, the patient is disease‐free and in good clinical condition. To put our experience in context, we conducted a literature review, analyzing current knowledge and state‐of‐the‐art diagnosis, prognosis, and clinical management of CIC rearranged sarcomas. Our findings further support the use of DNA methylation profiling as an important tool to improve diagnosis of non‐Ewing small round cell tumors. © 2020 by the authors. Licensee MDPI, Basel, Switzerland.
Original languageEnglish
JournalInt. J. Mol. Sci.
Issue number5
Publication statusPublished - 2020


  • CIC alteration
  • Diagnosis
  • DNA methylation profiling
  • Undifferentiated sarcoma
  • actin
  • activin receptor like kinase 1
  • CD34 antigen
  • CD99 antigen
  • cytokeratin 7
  • cytokeratin AE1
  • cytokeratin AE3
  • desmin
  • DNA nucleotidylexotransferase
  • doxorubicin
  • epithelial membrane antigen
  • ifosfamide
  • melan A
  • myeloperoxidase
  • MyoD protein
  • myogenin
  • neuron specific enolase
  • platelet endothelial cell adhesion molecule 1
  • protein bcl 2
  • protein p63
  • protein S 100
  • receptor type tyrosine protein phosphatase C
  • stem cell factor receptor
  • synaptophysin
  • transcription factor Fli 1
  • transducin
  • transducin like enhancer of split 1
  • tumor necrosis factor receptor superfamily member 8
  • unclassified drug
  • unindexed drug
  • WT1 protein
  • CIC protein, human
  • repressor protein
  • tumor marker
  • abdominal pain
  • bioinformatics
  • cancer chemotherapy
  • cancer grading
  • cancer staging
  • case report
  • child
  • CIC gene
  • clinical article
  • clinical examination
  • diffusion weighted imaging
  • DNA methylation
  • emergency ward
  • female
  • follow up
  • gene
  • gene rearrangement
  • high throughput sequencing
  • histopathology
  • human
  • immunohistochemistry
  • microarray analysis
  • multiple cycle treatment
  • multiplex polymerase chain reaction
  • nuclear magnetic resonance imaging
  • positron emission tomography-computed tomography
  • Review
  • rhabdomyosarcoma
  • school child
  • scoring system
  • treatment response
  • tumor biopsy
  • x-ray computed tomography
  • bone tumor
  • cell differentiation
  • differential diagnosis
  • Ewing sarcoma
  • genetics
  • multimodality cancer therapy
  • mutation
  • prognosis
  • sarcoma
  • small cell sarcoma
  • Biomarkers, Tumor
  • Bone Neoplasms
  • Cell Differentiation
  • Child
  • Combined Modality Therapy
  • Diagnosis, Differential
  • DNA Methylation
  • Female
  • Humans
  • Mutation
  • Prognosis
  • Repressor Proteins
  • Sarcoma
  • Sarcoma, Ewing
  • Sarcoma, Small Cell


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