Related Experiment Video

Updated: Jul 3, 2025

Isolation, Enrichment, and Maintenance of Medulloblastoma Stem Cells
06:32

Isolation, Enrichment, and Maintenance of Medulloblastoma Stem Cells

Published on: September 1, 2010

16.3K

Molecular and Treatment Characteristics of SMARCB1 or SMARCA4-Deficient Undifferentiated Tumor: Retrospective Case

Hyeon Gyu Kang1, Jiwon Koh2, Tae Min Kim3

  • 1Seoul National University College of Medicine, Seoul, Korea.

Cancer Research and Treatment
|February 14, 2024
PubMed

Insights

SMARCB1/SMARCA4-deficient cancers are aggressive. CD274 (PD-L1) amplification indicates potential response to immune checkpoint inhibitors, offering a promising treatment avenue.

Area of Science:

  • Oncology
  • Genetics
  • Immunology

Background:

  • SMARCB1 or SMARCA4-deficient sinonasal carcinoma and thoracic undifferentiated tumors exhibit aggressive behavior and poor prognoses.
  • Current treatments like chemotherapy, radiation, and immune checkpoint inhibitors show limited efficacy in these patients.

Purpose of the Study:

  • To investigate potential therapeutic targets and prognostic markers in SMARCB1/SMARCA4-deficient cancers.
  • To identify patient subgroups that may benefit from specific treatments, particularly immune checkpoint inhibitors.

Main Methods:

  • Diagnosis confirmed via immunohistochemistry or next-generation sequencing.
  • Analysis of treatment responses in relation to tumor characteristics, including CD274 (PD-L1) amplification.

Main Results:

  • Surgical intervention offered a potential cure for some patients.
  • Patients without CD274 (PD-L1) amplification showed resistance to conventional therapies.
  • A notable response to immune checkpoint inhibitors was observed in a patient with CD274 (PD-L1) amplification, correlating with a favorable prognosis.

Conclusions:

  • CD274 (PD-L1) amplification is a significant predictive biomarker for immune checkpoint inhibitor therapy in SMARCB1/SMARCA4-deficient cancers.
  • Identifying CD274 (PD-L1) status can guide optimal treatment selection for improved patient outcomes.
  • This finding offers new hope and a targeted approach for managing these aggressive malignancies.
Keywords:
SMARCA4SMARCB1Undifferentiated tumor

More Related Videos

Tumorsphere Derivation and Treatment from Primary Tumor Cells Isolated from Mouse Rhabdomyosarcomas09:21

Tumorsphere Derivation and Treatment from Primary Tumor Cells Isolated from Mouse Rhabdomyosarcomas

Published on: September 13, 2019

7.2K
Cell Population Analyses During Skin Carcinogenesis06:53

Cell Population Analyses During Skin Carcinogenesis

Published on: August 21, 2013

12.4K

Related Concept Videos

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...
4.5K
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,...
4.1K
Targeted Cancer Therapies02:57

Targeted Cancer Therapies

The targeted cancer therapies, also known as “molecular targeted therapies,” take advantage of the molecular and genetic differences between the cancer cells and the normal cells. It needs a thorough understanding of the cancer cells to develop drugs that can target specific molecular aspects that drive the growth, progression, and spread of cancer cells without affecting the growth and survival of other normal cells in the body.
There are several types of targeted therapies against...
7.6K
Cancer Stem Cells and Tumor Maintenance02:40

Cancer Stem Cells and Tumor Maintenance

Early diagnosis and treatment can often cure cancer. However, even with treatment, residual cells called cancer stem cells (CSC) might remain, often causing tumor recurrence. These cancer stem cells possess the potential for self-renewal and multi-lineage differentiation and are often responsible for the therapeutic resistance displayed in most cancers.
Cancer stem cells are thought to originate from tissue-specific normal stem cells or progenitor cells. The normal stem cells usually reside in...
4.9K