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Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Cancers Originate from Somatic Mutations in a Single Cell02:21

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Comparative Lesions Analysis Through a Targeted Sequencing Approach
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Primary cutaneous carcinosarcoma: insights into its clonal origin and mutational pattern expression analysis through

Alberto E Paniz Mondolfi1, George Jour, Matthew Johnson

  • 1Baylor College of Medicine, Division of Investigative and Molecular Pathology, Department of Pathology and Immunology, Houston, TX 77030, USA; Fundación Jacinto Convit (SAIB/IVSS) & Universidad de Los Andes (ULA), Departments of Biochemistry and Dermatopathology, Caracas, Venezuela 1010-A.

Human Pathology
|September 28, 2013
PubMed
Summary

Primary cutaneous carcinosarcoma, a rare cancer with epithelial and sarcomatous parts, likely originates from a single progenitor cell. Genetic analysis revealed identical TP53 mutations in both tumor components, supporting a common clonal origin.

Keywords:
Biphenotypic tumorsCancer stem cellsCarcinosarcomaCutaneousMutationNext-generation sequencingTP53Tumorigenesis

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Last Updated: May 7, 2026

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Area of Science:

  • Oncology
  • Dermatopathology
  • Molecular Pathology

Background:

  • Primary cutaneous carcinosarcoma is a rare biphenotypic neoplasm with poorly understood origins.
  • It is postulated to arise from progenitor cells differentiating into epithelial and sarcomatous components.

Observation:

  • Histological, ultrastructural, and immunohistochemical analyses were performed on a cutaneous carcinosarcoma case.
  • Transitional cells showed progenitor cell markers (K19, c-kit, CD34, Bcl-2), and both components expressed EpCAM.
  • Ultrastructural examination revealed cells with features of both epithelial and mesenchymal differentiation.

Findings:

  • Laser capture microdissection separated epithelial and sarcomatous components for next-generation sequencing.
  • Identical TP53 point mutations in exon 5 were found in both tumor components.
  • These mutations correlated with p53 protein expression, suggesting a common genetic alteration.

Implications:

  • The findings strongly suggest a common clonal origin for the distinct epithelial and sarcomatous elements of cutaneous carcinosarcoma.
  • This research provides insights into the pathogenesis of this rare tumor.
  • Understanding the clonal origin may inform future diagnostic and therapeutic strategies.