A study of pathological characteristics and BRAF V600E status in Langerhans cell histiocytosis of Vietnamese children
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Background: Langerhans cell histiocytosis (LCH) is more common in children than adults and involves many organs. In children, the BRAF V600E mutation is associated with recurrent and high-risk LCH. Methods: We collected paraffin blocks of 94 pediatric LCH patients to detect BRAF V600E mutation by sequencing. The relationship between BRAF V600E status and clinicopathological parameters were also critically analyzed. Results: BRAF V600E mutation exon 15 was detected in 45 cases (47.9%). Multiple systems LCH showed a significantly higher BRAF V600E mutation rate than a single system (p = .001). No statistical significance was evident for other clinical characteristics such as age, sex, location, risk organs involvement, and CD1a expression. Conclusions: In Vietnamese LCH children, the proportion of BRAF V600E mutational status was relatively high and related to multiple systems.
Abstract
Background: Langerhans cell histiocytosis (LCH) is more common in children than adults and involves many organs. In children, the BRAF V600E mutation is associated with recurrent and high-risk LCH. Methods: We collected paraffin blocks of 94 pediatric LCH patients to detect BRAF V600E mutation by sequencing. The relationship between BRAF V600E status and clinicopathological parameters were also critically analyzed. Results: BRAF V600E mutation exon 15 was detected in 45 cases (47.9%). Multiple systems LCH showed a significantly higher BRAF V600E mutation rate than a single system (p = .001). No statistical significance was evident for other clinical characteristics such as age, sex, location, risk organs involvement, and CD1a expression. Conclusions: In Vietnamese LCH children, the proportion of BRAF V600E mutational status was relatively high and related to multiple systems.
참고문헌 (27)
- Guyot-Goubin A, "Descriptive epidemiology of childhood Langerhans cell histiocytosis in France, 2000-2004", Pediatr Blood Cancer, 51, pp.71~75 (2008)
- Salotti JA, "Incidence and clinical features of Langerhans cell histiocytosis in the UK and Ireland", Arch Dis Child, 94, pp.376~380 (2009)
- Arceci RJ, "The histiocytoses : the fall of the Tower of Babel", Eur J Cancer, 35, pp.747~767 (1999)
- Gadner H, "Therapy prolongation improved outcome in multisystem Langerhans cell histiocytosis", Blood, 121, pp.5006~5014 (2013)
- Abla O, "Treatment of Langerhans cell histiocytosis : role of BRAF", MAPK inhibition, 2015, pp.2015, 565~570
- Birbeck MS, "An electron microscope study of basal melanocytes and high-level clear cells(Langerhans cell)in vitiligo", J Investig Dermatol, 37, pp.51~64 (1961)
- Minkov M, "Multisystem Langerhans cell histiocytosis in children : current treatment and future directions", Paediatr Drugs, 13, pp.75~86 (2011)
- Davies H, "Mutations of the BRAF gene in human cancer", Nature, 417, pp.949~954 (2002)
- Fiskus W, "B-Raf inhibition in the clinic : present and future", Annu Rev Med, 67, pp.29~43 (2016)
- Wooster R, "Sequencing analysis of BRAF mutations in human cancers", Methods Enzymol, 407, pp.218~224 (2006)
- Ascierto PA, "The role of BRAF V600mutation in melanoma", J Transl Med, 10, pp.85~ (2012)
- Heritier S, "BRAF mutation correlates with high-risk Langerhans cell histiocytosis and increased resistance to first-line therapy", J Clin Oncol, 34, pp.3023~3030 (2016)
- Berres ML, "BRAF-V600E expression in precursor versus differentiated dendritic cells defines clinically distinct LCH risk groups", J Exp Med, 212, pp.281~ (2015)
- Mehes G, "Activating BRAF V600E mutation in aggressive pediatric Langerhans cell histiocytosis : demonstration by allele-specific PCR", direct sequencing and immunohistochemistry, 2014, pp.38, 1644~1648
- Brown NA, "High prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis", Blood, 124, pp.1655~1658 (2014)
- Haroche J, "High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses", Blood, 120, pp.2700~2703 (2012)
- Nelson DS, "Somatic activating ARAF mutations in Langerhans cell histiocytosis", Blood, 123, pp.3152~3155 (2014)
- Sahm F, "BRAFV600E mutant protein is expressed in cells of variable maturation in Langerhans cell histiocytosis", Blood, 120, pp.e28~e34 (2012)
- Satoh T, "B-RAF mutant alleles associated with Langerhans cell histiocytosis, a granulomatous pediatric disease", PLoS One, 7, pp.e33891~ (2012)
- Ballester LY, "The use of BRAF V600E mutation-specific immunohistochemistry in pediatric Langerhans cell histiocytosis", Hematol Oncol, 36, pp.307~315 (2018)
- Alayed K, "BRAF and MAP2K1 mutations in Langerhans cell histiocytosis : a study of 50 cases", Hum Pathol, 52, pp.61~67 (2016)
- Roden AC, "BRAF V600E expression in Langerhans cell histiocytosis : clinical and immunohistochemical study on 25 pulmonary and 54 extrapulmonary cases", Am J Surg Pathol, 38, pp.548~551 (2014)
- Badalian-Very G, "Recurrent BRAF mutations in Langerhans cell histiocytosis", Blood, 116, pp.1919~1923 (2010)
- Ozer E, "BRAF V600E mutation : a significant biomarker for prediction of disease relapse in pediatric Langerhans cell histiocytosis", Pediatr Dev Pathol, 22, pp.449~455 (2019)
- Sasaki Y, "Analysis of the BRAFV600E mutation in 19 cases of Langerhans cell histiocytosis in Japan", Hematol Oncol, 35, pp.329~334 (2017)
- Go H, "Frequent detection of BRAF(V600E)mutations in histiocytic and dendritic cell neoplasms", Histopathology, 65, pp.261~272 (2014)
- Liu X, "High prevalence of BRAF V600E mutations in Langerhans cell histiocytosis of head and neck in Chinese patients", Int J Surg Pathol, 27, pp.836~843 (2019)