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Oncogenic NRAS Mutation in Incipient Sarcomatous Transformation of Cystic Nephroma From a Patient With DICER1-Related

Nahir Cortes-Santiago1,2, Sarah B Whittle3,4, Sarah Scollon3,4,5

  • 1Department of Pathology, Texas Children's Hospital, Houston, Texas, USA.

Pediatric Blood & Cancer
|December 23, 2025
PubMed

Insights

Pediatric cystic nephroma (PCN) may precede anaplastic sarcoma of the kidney (ASK). Researchers found an NRAS Q61R mutation in an early-stage tumor, identifying a key genetic driver for malignant transformation in kidney tumors.

Area of Science:

  • Pediatric Oncology
  • Cancer Genomics
  • Nephropathology

Background:

  • Anaplastic sarcoma of the kidney (ASK) is a rare malignant tumor in children, presumed to develop from a benign precursor, pediatric cystic nephroma (PCN).
  • The specific genetic events initiating the malignant transformation from PCN to ASK remain largely unknown.
  • Understanding these early oncogenic alterations is crucial for diagnosing and treating pediatric kidney cancers.

Purpose of the Study:

  • To investigate the genomic landscape of a pediatric cystic nephroma (PCN) exhibiting early signs of sarcomatous transformation.
  • To identify the initial oncogenic alterations responsible for the transition from benign PCN to malignant ASK.
  • To elucidate the histogenetic link between PCN and ASK at a molecular level.

Main Methods:

  • Genomic characterization using multi-region sequencing.
  • Analysis of both germline and somatic mutations in tumor tissues.
  • Comparison of genetic profiles between benign PCN areas and foci of anaplasia.

Main Results:

  • The study identified an NRAS Q61R mutation exclusively in the focal anaplastic areas of the PCN, indicative of early sarcomatous change.
  • Germline and somatic DICER1 alterations were present in both the benign PCN and the anaplastic regions.
  • This NRAS mutation was absent in the non-anaplastic portions of the tumor.

Conclusions:

  • The NRAS Q61R mutation represents a potential initiating oncogenic event in the malignant transformation of PCN to ASK.
  • This finding provides the first molecular evidence of an early oncogenic alteration in incipient sarcomatous transformation within a PCN.
  • The study reinforces the proposed histogenetic relationship between pediatric cystic nephroma and anaplastic sarcoma of the kidney.
Keywords:
DICER1 mutationNRAS mutationanaplastic sarcoma of the kidneypediatric cystic nephroma

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