Related Experiment Video
Updated: Jun 11, 2025
08:57
Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors
Published on: May 17, 2024
1.9K
Sarcomatoid Morphology in Pediatric Langerhans Cell Neoplasm Does Not Always Predict Aggressive Clinical Course
Sam Sirotnikov1,2, Louis P Dehner3, José E Velázquez Vega1,2
1Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, GA, USA.
Summary
Langerhans cell sarcoma (LCS) is a rare myeloid neoplasm. This study details two pediatric cases of LCS with high-grade sarcomatous features, revealing an OSBPL9::BRAF fusion and BRAF V600E mutation.
Area of Science:
- Oncology
- Hematology
- Genetics
Background:
- Langerhans cell sarcoma (LCS) is a rare myeloid neoplasm.
- Malignant Langerhans cells (LC) exhibit significant mitotic activity.
- While predominantly seen in adults, pediatric LCS cases are infrequently reported with varied outcomes.
Purpose of the Study:
- To report two pediatric cases of Langerhans cell neoplasm.
- To characterize these neoplasms by high-grade sarcomatous features.
- To identify specific genetic alterations, including gene fusions and mutations.
Main Methods:
- Clinical case presentation.
- Histopathological examination of tumor samples.
- Molecular genetic analysis to detect gene fusions and mutations.
Main Results:
- Two pediatric patients diagnosed with high-grade Langerhans cell sarcoma.
- Identification of an OSBPL9::BRAF fusion in both cases.
- Detection of BRAF V600E mutation in conjunction with the fusion.
Conclusions:
- These findings highlight rare pediatric cases of LCS.
- The OSBPL9::BRAF fusion and BRAF V600E mutation may be significant in pediatric LCS pathogenesis.
- Further research is warranted to understand the clinical implications of these genetic findings.
Related Concept Videos
02:07Tumor Progression
6.2K
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...
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...
6.2K
02:23Abnormal Proliferation
4.5K
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