RT Journal Article
SR Electronic
T1 Peritoneal or mesenteric tumours revealing histiocytosis
JF BMJ Open Gastroenterology
JO BMJ Open Gastro
FD BMJ Publishing Group Ltd
SP e000622
DO 10.1136/bmjgast-2021-000622
VO 8
IS 1
A1 Fleur Cohen-Aubart
A1 Irena Ungureanu
A1 Jerome Razanamahery
A1 Frédéric Charlotte
A1 Séverine Valmary-Degano
A1 Zofia Hélias-Rodzewicz
A1 Dominique Cazals-Hatem
A1 Peggy Dartigues
A1 Manuela Delage-Corre
A1 Janick Selves
A1 Patrick Tas
A1 Sebastien Humbert
A1 Alexandre Malakhia
A1 Merja Kunnamo
A1 Liana Veresezan
A1 Chrystalla Prokopiou
A1 Andreas Seeber
A1 Abdellatif Tazi
A1 Jean Donadieu
A1 Olivier Lucidarme
A1 Julien Haroche
A1 Jean-François Emile
YR 2021
UL http://bmjopengastro.bmj.com//content/8/1/e000622.abstract
AB Objective Peritoneal or mesenteric tumours may correspond to several tumour types or tumour-like conditions, some of them being represented by histiocytosis. This rare condition often poses diagnostic difficulties that can lead to important time delay in targeted therapies. Our aim was to describe main features of histiocytoses with mesenteric localisation that can improve the diagnostic process.Design We performed a retrospective study on 22 patients, whose peritoneal/mesenteric biopsies were infiltrated by histiocytes.Results Abdominal pain was the revealing symptom in 10 cases, and 19 patients underwent surgical biopsies. The diagnosis of histiocytosis was proposed by initial pathologists in 41% of patients. The other initial diagnoses were inflammation (n=7), sclerosing mesenteritis (n=4) and liposarcoma (n=1). The CD163/CD68+CD1a- histiocytes infiltrated subserosa and/or deeper adipose tissues in 16 and 14 cases, respectively. A BRAFV600E mutation was detected within the biopsies in 11 cases, and two others were MAP2K1 mutated. The final diagnosis was histiocytosis in 18 patients, 15 of whom had Erdheim-Chester disease. The median diagnostic delay of histiocytosis was 9 months. Patients treated with BRAF or MEK inhibitors showed a partial response or a stable disease. One patient died soon after surgery, and five died by the progression of the disease.Conclusion Diagnosis of masses arising in the mesentery should be carefully explored as one of the possibilities in histiocytosis. This diagnosis is frequently missed on mesenteric biopsies. Molecular biology for detecting the mutations in BRAF or in genes of the MAP kinase pathway is a critical diagnostic tool.Data are available on reasonable request. All data relevant to the study are included in the article or uploaded as supplementary information. Data requests should be addressed to J-FE, MD, PhD at the following mail: jean-francois.emile@uvsq.fr.