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Related Concept Videos

The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
The Ras Gene02:38

The Ras Gene

The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a superfamily...
Abnormal Proliferation02:23

Abnormal Proliferation

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 daughter...
ATP Driven Pumps III: V-type Pumps01:30

ATP Driven Pumps III: V-type Pumps

V-type pumps are ATP-driven pumps found in the vacuolar membranes of plants, yeast, endosomal and lysosomal membranes of animal cells, plasma membranes of a few specialized eukaryotic cells, and some prokaryotes. They are also known as the V1Vo-ATPase, that couple ATP hydrolysis to transport protons against a concentration gradient.
The peripheral or cytosolic V1 domain with eight subunits is involved in ATP hydrolysis. The integral or transmembrane V0 domain containing at least five subunits...

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Granular Cell Dermatofibroma Demonstrates Loss-of-Function Mutations in V-ATPase Component Genes.

Xingyuan Jiang1, Ronghua Hu1, Keith A Choate1,2,3

  • 1Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut, USA.

Journal of Cutaneous Pathology
|May 11, 2026
PubMed
Summary
This summary is machine-generated.

Granular cell dermatofibroma (GCDF) harbors V-ATPase gene mutations, similar to granular cell tumors (GCT). Identifying these genetic links helps distinguish benign GCDF from malignant GCT, guiding appropriate patient management.

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Area of Science:

  • Dermatopathology
  • Molecular Biology
  • Oncology

Background:

  • Granular cell dermatofibroma (GCDF) is a rare variant of dermatofibroma.
  • Its pathogenesis and molecular alterations are poorly understood.
  • Granular cell tumors (GCT) are linked to mutations in V-ATPase component genes.

Purpose of the Study:

  • To investigate the molecular basis of GCDF.
  • To identify genetic mutations associated with GCDF.
  • To differentiate GCDF from GCT.

Main Methods:

  • Whole exome sequencing was performed on six GCDF cases.
  • Comparative analysis of lesional and paired control tissues was conducted.
  • Genetic mutations in GCDF were identified.

Main Results:

  • Fifty percent (3/6) of GCDF cases showed mutations in V-ATPase component genes (ATP6AP1, ATP6V0C, ATP6AP2).
  • This expands the known spectrum of V-ATPase-associated tumors.
  • Findings suggest a molecular link between GCDF and GCT.

Conclusions:

  • GCDF harbors V-ATPase gene mutations, similar to GCT.
  • Awareness of these molecular findings aids in differentiating benign GCDF from GCT.
  • This distinction is crucial for avoiding aggressive surgical management of GCDF.