Associated Papers
Recurrent ETV3::NCOA2 fusions and MAPK pathway mutations in indeterminate dendritic cell histiocytosis.
Kemps PG et al.
Blood Advances, 2025
39361730 (PubMed )
Supplement: BLOODA_ADV-2024-013696-mmc1.pdf
An Unexpected Finding of a PTPN11 Germline Mutation in a Patient With a Melanocytic Lesion With a Somatic MAP2K1 Mutation. Coincidence or Not?
van der Woude S et al.
Journal of Cutaneous Pathology, 2025
Beyond BRAFV600E: Investigating the Clinical and Genetic Spectrum of Langerhans Cell Histiocytosis in Children.
Tang X et al.
Cancer Medicine, 2024
Indeterminate DC histiocytosis is distinct from LCH and often associated with other hematopoietic neoplasms.
Ozkaya N et al.
Blood Advances, 2024
Intramuscular hemangioma capillary type with HRAS mutation: Expanding the molecular genetic spectrum with an emphasis on overlap with arteriovenous malformations and distinct from infantile hemangioma.
Xue S et al.
Human Pathology, 2024
An integrated genetic analysis of epileptogenic brain malformed lesions.
Fujita A et al.
Acta Neuropathologica Communications, 2023
Clinicogenomic associations in childhood Langerhans cell histiocytosis: an international cohort study.
Kemps PG et al.
Blood Advances, 2023
36083130 (PubMed )
Supplement: BLOODA_ADV-2022-007947-mmc1.pdf
Clinical study of MAP2K1-mutated Langerhans cell histiocytosis in children.
Yang Y et al.
Journal of Cancer Research and Clinical Oncology, 2022
MAP2K1-Mutated Melanocytic Neoplasms With a SPARK-Like Morphology.
Donati M et al.
The American Journal of Dermatopathology, 2021
Analysis of the BRAF and MAP2K1 mutations in patients with Langerhans cell histiocytosis in Japan.
Hayase T et al.
International Journal of Hematology, 2020
Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.
Manca A et al.
Journal of Translational Medicine, 2019
31455347 (PubMed )
Supplement: 12967_2019_2039_MOESM1_ESM.xlsx › Validation_cohort_nsyn_variants
Genotype-Guided Medical Treatment of an Arteriovenous Malformation in a Child.
Lekwuttikarn R et al.
Jama Dermatology, 2019
Germline Predisposition and Copy Number Alteration in Pre-stage Lung Adenocarcinomas Presenting as Ground-Glass Nodules.
Ren Y et al.
Frontiers in Oncology, 2019
31058088 (PubMed )
Supplement: Data_Sheet_1.PDF
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
Al-Olabi L et al.
The Journal of Clinical Investigation, 2018
Mutually exclusive extracellular signal-regulated kinase pathway mutations are present in different stages of multi-focal pulmonary Langerhans cell histiocytosis supporting clonal nature of the disease.
Kamionek M et al.
Histopathology, 2016
Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis.
Chakraborty R et al.
Blood, 2014
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