Related Experiment Video

Updated: Nov 3, 2025

Simple and Rapid Method to Obtain High-quality Tumor DNA from Clinical-pathological Specimens Using Touch Imprint Cytology
11:20

Simple and Rapid Method to Obtain High-quality Tumor DNA from Clinical-pathological Specimens Using Touch Imprint Cytology

Published on: March 21, 2018

11.1K

A Rare Case of Progressive Malignant Triton Tumor With Rare Somatic Mutation in TSC2 Gene

Reshad S Ghafouri1, Nawar M Hakim2, Ioannis T Konstantinidis3

  • 1Division of Hematology-Oncology, Department of Internal Medicine, Texas Tech University Health Sciences Center El Paso, El Paso, TX, U.S.A.; alexander.philipovskiy@ttuhsc.edu s.reshad.ghafouri@ttuhsc.edu.

Anticancer Research
|June 4, 2021
PubMed
Abstract

Insights

Malignant triton tumor (MTT), a rare cancer, can spread aggressively. This case highlights splenic metastasis and a TSC2 gene mutation, emphasizing early diagnosis and surgical intervention for better outcomes.

Area of Science:

  • Oncology
  • Genetics
  • Pathology

Background:

  • Malignant triton tumor (MTT) is a rare, aggressive peripheral nerve sheath tumor with rhabdomyosarcoma differentiation.
  • MTTs are associated with rapid progression and poor clinical outcomes.
  • Limited data exists on MTT treatment efficacy, with chemotherapy and radiation therapy effects remaining controversial.

Observation:

  • This report details a rare case of metastatic malignant triton tumor in an adult male.
  • The patient presented with multiple distant organ metastases, including the spleen.
  • Initial treatment refusal was followed by disease progression.

Findings:

  • This is the first reported case of MTT with multiple splenic metastases.
  • A novel frame-shift mutation in the tuberous sclerosis complex 2 (TSC2) gene was identified in the patient's tumor.
  • The patient underwent above-knee amputation and palliative chemotherapy, but succumbed to rapid disease progression.

Implications:

  • The findings underscore the aggressive nature of MTT and its propensity for early metastasis.
  • Early diagnosis and surgical intervention are critical for improving patient outcomes.
  • The identification of a TSC2 mutation may offer new avenues for understanding MTT pathogenesis and developing targeted therapies.
Keywords:
Malignant triton tumorSchwann cell tumorchemotherapyneurofibromaperipheral nerve tumor

More Related Videos

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.4K
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

24.7K

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,...
4.3K
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...
13.4K
mTOR Signaling and Cancer Progression03:03

mTOR Signaling and Cancer Progression

The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
4.0K
Tumor Progression02:07

Tumor Progression

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.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
6.7K
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

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.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
8.5K
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...
4.8K