[Histiocytosis of Rosai-Dorfman-Destombes extranodal of the jawbone: Report of a case and review of the literature]. / Histiocytose de Rosai-Dorfman-Destombes extra-ganglionnaire du maxillaire : à propos d'un cas et revue de la littérature.

Rosai-Dorfman-Destombes histiocytosis is a rare histiocytosis characterized by an accumulation of histiocytes within the tissues. It is a heterogeneous entity with various clinical phenotypes: isolated lymph nodes, in association with extranodal involvement, autoimmune disease or neoplasm. These extra nodal lesions mainly affect the skin, the nasal cavity, orofacial sinuses, or are lytic bone lesions or even damage to the central nervous system. The diagnosis is histopathological. We present here the case of a histiocytosis of Rosai-Dorfman-Destombes in a 46-year-old patient with a lesion of the left palate. Our observation discuss the diagnostic hypotheses in front of a lytic lesion of the ENT sphere predominantly histiocytic.

Somatic Molecular Heterogeneity in Bilateral Macronodular Adrenocortical Disease (BMAD) Differs Among the Pathological Subgroups.

Bilateral macronodular adrenocortical disease (BMAD) is an uncommon cause of Cushing's syndrome leading to bilateral macronodules. Isolated BMAD has been classified into three molecular groups: patients with ARMC5 alteration, KDM1A alteration, and patients without known genetic cause. The aim of this study was to identify by NGS, in a cohort of 26 patients with BMAD, the somatic alterations acquired in different nodules after macrodissection from patients with germline ARMC5 or KDM1A alterations and to analyze potential somatic alterations in a panel of five other genes involved in adrenal pathology (GNAS, PDE8B, PDE11A, PRKAR1A, and PRKACA). Twenty-three patients (7 ARMC5, 3 KDM1A, and 13 BMAD with unknown genetic cause) were analyzable. Somatic ARMC5 or KDM1A events were exclusively observed in patients with germline ARMC5 and KDM1A alterations, respectively. Six out of 7 ARMC5 patients have a high heterogeneity in identified somatic events, whereas one ARMC5 and all KDM1A patients show a loss of heterozygosity (LOH) in all nodules. Except for passenger alterations of GNAS, no genetic alteration susceptible to causing the disease was detected in the BMAD with unknown genetic cause. Our study reinforces our knowledge of the somatic genetic heterogeneity of ARMC5 and the somatic homogeneity of KDM1A. It reveals the absence of purely somatic events in these two genes and provides a new tool for detecting KDM1A alterations by FISH 1p36/1q25.