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Master Thesis

Comparaison des profils épidémiologiques, cliniques, fonctionnels et scannographiques des patients atteints d’Histiocytose Langerhansienne pulmonaire selon leur statut mutationnel BRAF

Abstract : Introduction: pulmonary LCH Histiocytosis has a varying evolution and severity, sometimes independent of continuation or smoking cessation, with patients with rapid declines in respiratory function or severe impairment. Recent evidence of the V600E BRAF mutation in some patients leads to the question of the association between this mutation and the evolution or severity of the disease. The main objective of this study was to compare the clinical, functional and scanographiques profiles of mutated and unmutated patients. The secondary objective was to compare the functional scalability of these patients. Method: we based ourselves on the cohort of Pierry et al. Patients were considered mutated if the digital PCR returned positive. Clinical, functional and scanographiques data were collected retrospectively. The thoracic CT was reread by Dr. DOURNES (Radiologist): the lungs were divided into 18 segments, with an analysis of the elemental lesions performed by segment. Results: the study examined 31 patients, 12 had the V600E BRAF mutation. Scanographiques data were available for 20 patients. Unmutated patients had significantly more pneumothorax. On CT of the mutated patients, there was a significant increase in bud-tree nodules and more unique cysts per reading field. VEMS to follow-up in% was significantly lower in non-mutated patients than in mutated patients. Conclusion: non-mutated patients BRAF V600E showed more pneumothorax than non-mutated patients. There was no functional difference in diagnosis in mutated and non-mutated patients. However, there appeared to be a tendency towards more severe changes in obstruction in non-mutation patients. On the scan plane, the presence of the V600E BRAF mutation was associated with an increase in bud-tree micronodules and unique cysts.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-01959327
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Submitted on : Tuesday, December 18, 2018 - 4:21:22 PM
Last modification on : Saturday, January 19, 2019 - 1:15:41 AM
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Camille Brochet. Comparaison des profils épidémiologiques, cliniques, fonctionnels et scannographiques des patients atteints d’Histiocytose Langerhansienne pulmonaire selon leur statut mutationnel BRAF. Médecine humaine et pathologie. 2018. ⟨dumas-01959327⟩

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