Disseminated Juvenile Xanthogranuloma Harboring a GAB2::BRAF fusion Successfully Treated with Trametinib: a Case Report DOI

Kaini Shen,

He Lin,

Long Chang

et al.

British Journal of Dermatology, Journal Year: 2024, Volume and Issue: unknown

Published: Aug. 16, 2024

We present an interesting case of disseminated juvenile xanthogranuloma harbouring a GAB2::BRAF fusion that exhibited dramatic response to trametinib, highlighting the utility RNA sequencing and targeted next-generation in non-Langerhans cell histiocytosis identifying potential therapeutic targets.

Language: Английский

Tumour-agnostic kinase inhibitors DOI
Jacob J. Adashek, Mina Nikanjam, Razelle Kurzrock

et al.

Nature Reviews Drug Discovery, Journal Year: 2025, Volume and Issue: unknown

Published: March 6, 2025

Language: Английский

Citations

2
Molecular Targeting of the BRAF Proto-Oncogene/Mitogen-Activated Protein Kinase (MAPK) Pathway across Cancers DOI Open Access
Khine Shan, Tauseef Ur Rehman,

S. G. Ivanov

et al.

International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(1), P. 624 - 624

Published: Jan. 3, 2024

The mitogen-activated protein kinase (MAPK) pathway is essential for cellular proliferation, growth, and survival. Constitutive activation of this by BRAF mutations can cause downstream kinases, leading to uncontrolled growth carcinogenesis. Therefore, inhibition the substrate MEK has been shown be effective in controlling tumor proliferation. Over last decade, several inhibitors have investigated, ranging from primarily melanoma various cancer types with alterations. This subsequently led Food Drug Administration (FDA) approvals BRAF/MEK melanoma, non-small cell lung cancer, anaplastic thyroid colorectal histiocytosis neoplasms, finally, tumor-agnostic indications. Here, comprehensive review will cover developments melanomas indications, novel drugs, challenges, future directions, importance those drugs personalized medicine.

Language: Английский

Citations

14
Trametinib for a child with refractory Rosai–Dorfman–Destombes disease harboring a novel somatic mutation in MAP2K1 DOI
Yuichi Taneyama, Akira Morimoto,

Hidemasa Ochiai

et al.

International Journal of Hematology, Journal Year: 2024, Volume and Issue: 120(4), P. 520 - 524

Published: July 14, 2024

Language: Английский

Citations

4
MEK Inhibition With Trametinib for the treatment of MAP2K1‐Mutated Rosai–Dorfman–Destombes Disease Arising from the Nasopharynx in a Paediatric Patient DOI Open Access

Claire Cuerden,

Mahmoud Al-Salem,

Eleanor Sproson

et al.

Pediatric Blood & Cancer, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 16, 2025

Language: Английский

Citations

0
Case Report: Coexistence of Rosai-Dorfman disease and B-cell acute lymphoblastic leukemia in an adolescent DOI Creative Commons

Alireza Jenabzadeh,

Fariba Binesh, Amir Pasha Amel Shahbaz

et al.

Frontiers in Pediatrics, Journal Year: 2025, Volume and Issue: 13

Published: Feb. 26, 2025

Rosai-Dorfman disease (RDD) is an unusual, non-malignant proliferative disorder involving non-Langerhans cell histiocytes, characterized by a wide range of clinical presentations and distinctive atypical morphological patterns. The concurrent manifestation acute lymphoblastic leukemia (ALL) alongside RDD exceptionally rare. Here, we present the case 14-year-old male patient diagnosed with ALL who, during consolidation phase chemotherapy, developed multifocal bone, dural, liver lesions, as confirmed through CT MRI imaging. Histopathological evaluations bone lesions identified features consistent disease. To best our knowledge, this represents first reported instance co-occurring high-risk pre-B-cell in adolescent undergoing chemotherapy. Unfortunately, experienced relapse died due to fungal infection. In report, analyze distinct progression both conditions offer extensive review relevant literature.

Language: Английский

Citations

0
Advances in Understanding and Management of Erdheim-Chester Disease DOI Creative Commons
Aniruddha Murahar Kulkarni, Prasanna Kumar Reddy Gayam, Jesil Mathew Aranjani

et al.

Life Sciences, Journal Year: 2024, Volume and Issue: 348, P. 122692 - 122692

Published: May 6, 2024

Erdheim Chester Disease (ECD) is a rare histiocytic disorder marked by infiltration of organs with CD68+ histiocytes. ECD stems from mutations BRAF and MAP2K1 in hematopoietic stem progenitor cells (HSPCs), which further differentiate into monocytes Histopathology reveals lipid-containing histiocytes, test positive for CD68 CD133 immunohistochemistry. Signs symptoms vary depend on the organ/s manifestation. Definitive radiological results associated include hairy kidney, coated aorta, cardiac pseudotumor. Treatment options primarily anti-cytokine therapy inhibitors MEK signaling.

Language: Английский

Citations

3
A Novel Lysosome Targeting Chimera for Targeted Protein Degradation via Split-and-Mix Strategy DOI
Jinpeng Wang, Yuechen Wang,

Fenfang Yang

et al.

ACS Chemical Biology, Journal Year: 2024, Volume and Issue: 19(5), P. 1161 - 1168

Published: April 25, 2024

Targeted protein degradation is becoming more and important in the field of drug development. Compared with proteasomal-based degraders, lysosomal-based degraders have a broader target spectrum targets, which been demonstrated to great potential, especially degrading undruggable proteins. Recently, we developed programmable facile screening PROTAC development platform based on peptide self-assembly termed split-and-mix (SM-PROTAC). In this study, applied technology for lysosome-based named chaperone-mediated autophagy-based degrader (SM-CMAD). We successfully SM-CMAD as universal by several including ERα, AR, MEK1/2, BCR-ABL. Different from other was capable ligand ratios. believe that our work will promote multifunctional molecules clinical translation degraders.

Language: Английский

Citations

2
Successful treatment of MAP2K1 mutant stage IV-M1d melanoma with trametinib plus low-dose dabrafenib: a case report DOI Creative Commons
Iris Dirven,

Evan Calliauw,

Gil Awada

et al.

Frontiers in Medicine, Journal Year: 2024, Volume and Issue: 11

Published: Sept. 9, 2024

Clonal MAPK-pathway activating mutations in the

Language: Английский

Citations

2
Current State of Targeted Therapy in Adult Langerhans Cell Histiocytosis and Erdheim–Chester Disease DOI
Lin He, Xinxin Cao

Targeted Oncology, Journal Year: 2024, Volume and Issue: 19(5), P. 691 - 703

Published: July 11, 2024

Language: Английский

Citations

2
Investigating the correlation between small molecular inhibitor utilization, peripheral blood monocytes, and treatment outcomes in Rosai Dorfman disease DOI

Samuel B Reynolds,

Sabrina Wilcox,

Qing Li

et al.

Annals of Hematology, Journal Year: 2023, Volume and Issue: 103(1), P. 37 - 59

Published: Nov. 9, 2023

Language: Английский

Citations

4