Article Text

Peritoneal or mesenteric tumours revealing histiocytosis
  1. Fleur Cohen-Aubart1,2,
  2. Irena Ungureanu3,4,
  3. Jerome Razanamahery5,
  4. Frédéric Charlotte6,
  5. Séverine Valmary-Degano7,
  6. Zofia Hélias-Rodzewicz3,8,
  7. Dominique Cazals-Hatem9,
  8. Peggy Dartigues10,
  9. Manuela Delage-Corre11,
  10. Janick Selves12,
  11. Patrick Tas13,
  12. Sebastien Humbert5,
  13. Alexandre Malakhia14,
  14. Merja Kunnamo15,
  15. Liana Veresezan16,
  16. Chrystalla Prokopiou17,
  17. Andreas Seeber18,19,
  18. Abdellatif Tazi20,21,
  19. Jean Donadieu8,22,
  20. Olivier Lucidarme23,24,
  21. Julien Haroche1,25,
  22. Jean-François Emile3,8
  1. 1Sorbonne University, Paris, Île-de-France, France
  2. 2Service de Médecine Interne et Centre National de Référence Maladies Systémiques Rares et Histiocytoses, University Hospital Pitié Salpêtrière, Paris, Île-de-France, France
  3. 3Department of Pathology, Hôpital Ambroise-Pare, Boulogne-Billancourt, Île-de-France, France
  4. 4Department of Pathology, University Emergency Hospital Bucharest, Bucharest, Romania
  5. 5Department of Internal Medicine and Clinical Immunology, University Hospital Centre Dijon, Dijon, France
  6. 6Department of Pathology, University Hospital Pitié Salpêtrière, Paris, Île-de-France, France
  7. 7Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309, University Grenoble Alpes, Grenoble, Rhône-Alpes, France
  8. 8EA4340-BECCOH, Versailles Saint-Quentin-en-Yvelines University, Versailles, Île-de-France, France
  9. 9Department of Pathology, Hopital Beaujon, Clichy, France
  10. 10Department of Pathology, Gustave Roussy Institute, Villejuif, Île-de-France, France
  11. 11Department of Pathology, CHU Limoges, Limoges, Limousin, France
  12. 12Department of Pathology, Institut Universitaire du Cancer Toulouse Oncopole, Toulouse, Occitanie, France
  13. 13Department of Pathology, CHU Pontchaillou, Rennes, Bretagne, France
  14. 14Department of Radiology, University Hospital Centre Besancon, Besancon, France
  15. 15Department of Medicine, Central Finland Central Hospital, Jyvaskyla, Central Finland, Finland
  16. 16Department of Pathology, Centre Henri Becquerel, Rouen, Haute-Normandie, France
  17. 17Limassol General Hospital, Lemesos, Cyprus
  18. 18Medical University of Innsbruck, Innsbruck, Austria
  19. 19Department of Hematology and Oncology, Comprehensive Cancer Center Innsbruck, Innsbruck, Austria
  20. 20Centre National de Référence des Histiocytoses, Department of Pneumology, Hospital Saint-Louis, Paris, Île-de-France, France
  21. 21FR-75006, Université de Paris, Paris, Île-de-France, France
  22. 22Department of Pediatric Hematology and Oncology, Centre de Référence des Histiocytoses, Hôpital Armand-Trousseau, Paris, Île-de-France, France
  23. 23Department of Radiology, University Hospital Pitié Salpêtrière, Paris, Île-de-France, France
  24. 24CNRS, INSERM, Laboratoire d'Imagerie Biomédicale, Sorbonne University, Paris, Île-de-France, France
  25. 25Service de Médecine Interne et Centre National de Référence Maladies Systémiques Rares, University Hospital Pitié Salpêtrière, Paris, Île-de-France, France
  1. Correspondence to Dr Jean-François Emile; jean-francois.emile{at}uvsq.fr

Abstract

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.

  • abdominal pain
  • molecular biology
  • cancer

Data availability statement

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.

http://creativecommons.org/licenses/by-nc/4.0/

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

Statistics from Altmetric.com

Data availability statement

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.

View Full Text

Supplementary materials

  • Supplementary Data

    This web only file has been produced by the BMJ Publishing Group from an electronic file supplied by the author(s) and has not been edited for content.

Footnotes

  • FC-A, IU and JR contributed equally.

  • Contributors FC-A prepared the original manuscript draft and was in charge with the clinical analysis of the cases. IU prepared the original manuscript draft and was in charge with the histopathological analysis of the cases. JR handled clinical data collection and data analysis. FC was in charge with histopathology analysis. SV-D handled data collection and data analysis. ZH-R handled the interpretation of molecular tests. DC-H handled histopathological data collection and analysis. PD handled histopathological data collection and analysis. MD-C handled histopathological data collection and analysis. JS handled histopathological data collection and analysis. PT handled histopathological data collection and analysis. SH handled clinical data collection and data analysis. AM handled data collection and data analysis related to radiology. MK provided clinical data. LV handled histopathological data collection and analysis. CP handled clinical data collection and data analysis. AS handled clinical data collection and data analysis. AT handled data collection and data analysis. JD handled data collection and data analysis. OL handled data collection and data analysis related to radiology. JH designed and conducted the study, prepared the original manuscript draft and was in charge with the clinical analysis of the cases. J-FE designed and conducted the study, prepared the original manuscript draft and was in charge with the pathology and molecular analysis of the cases. All the authors corrected and approved the final version of the manuscript.

  • Funding Work funded in part by Association Pour la Recherche et L'enseignement en Pathologie.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.