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Related Concept Videos

Cancers Originate from Somatic Mutations in a Single Cell02:21

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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...
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Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
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Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
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Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
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Tissue-Specific Genomic Evolution Despite Shared MED12 Mutations in Benign Tumors.

Jeong Namkung1, Sang Ho Park2, Ayoung Hwang3

  • 1Department of Obstetrics and Gynecology, Eunpyeong St. Mary's Hospital, College of Medicine, The Catholic University of Korea, 1021 Tongil-ro, Eunpyeong-gu, Seoul 03312, Republic of Korea.

Journal of Clinical Medicine
|October 29, 2025
PubMed
Summary

Uterine leiomyomas (ULs) and breast fibroadenomas (FAs) share initial MED12 mutations but diverge in genomic evolution. ULs show chromosomal instability, while FAs develop a mutator phenotype, impacting tumor biology and risk stratification.

Keywords:
MED12 mutationbreast fibroadenomauterine leiomyomawhole-exome sequencing

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Area of Science:

  • Oncology
  • Genomics
  • Molecular Biology

Background:

  • Uterine leiomyomas (ULs) and breast fibroadenomas (FAs) are common hormone-responsive benign tumors in women.
  • Both tumor types frequently harbor MED12 mutations but their distinct clinical behaviors suggest divergent molecular evolution.
  • Understanding these divergent pathways is crucial for accurate diagnosis and risk stratification.

Purpose of the Study:

  • To compare the somatic mutations, copy number alterations (CNAs), and mutational signatures of ULs and FAs.
  • To investigate whether ULs and FAs diverge in their oncogenic trajectories despite shared initiating genetic alterations.
  • To elucidate the molecular basis for the distinct clinical behaviors of ULs and FAs.

Main Methods:

  • Whole-exome sequencing (WES) of 15 ULs and 7 FAs with matched normal controls.
  • Analysis of somatic variants, CNAs using FACETS and GISTIC2, and mutational signatures using SigProfiler.
  • Determination of microsatellite instability status using MSIsensor2.

Main Results:

  • Both ULs and FAs share identical MED12 p.G44D mutations, indicating a common molecular initiation.
  • ULs exhibit chromosomal instability with oncogene amplifications, while FAs are chromosomally stable but hypermutated.
  • A benign FA displayed mutations typically associated with malignant breast cancer, challenging traditional classifications.

Conclusions:

  • ULs and FAs evolve through distinct genomic pathways: ULs via chromosomal instability and FAs via a mutator phenotype.
  • These findings highlight tissue-specific oncogenic evolution and the potential of genomic profiling for risk stratification.
  • Genomic profiling may distinguish benign tumors with atypical molecular features, impacting clinical management.