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Article ; Online: ALK-Positive Histiocytosis-A Distinct Histiocytic Entity Deserving Recognition.

Kemps, Paul G / Picarsic, Jennifer L / Emile, Jean-François

2024

Language	English
Publishing date	2024-04-24
Publishing country	United States
Document type	Journal Article
ZDB-ID	2701761-8
ISSN	2168-6084 ; 2168-6068
ISSN (online)	2168-6084
ISSN	2168-6068
DOI	10.1001/jamadermatol.2024.0750
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Article ; Online: Cutaneous histiocytoses in children.

Fraitag, Sylvie / Emile, Jean-Francois

Histopathology

2021 Volume 80, Issue 1, Page(s) 196–215

Abstract: Cutaneous histiocytoses constitute a heterogeneous group of diseases characterised by the cutaneous accumulation of cells with the cytological and phenotypic features of macrophages or dendritic cells. The clinical spectrum ranges from self-resolving, ... ...

Abstract	Cutaneous histiocytoses constitute a heterogeneous group of diseases characterised by the cutaneous accumulation of cells with the cytological and phenotypic features of macrophages or dendritic cells. The clinical spectrum ranges from self-resolving, skin-limited conditions to severe, multiorgan disease with a high morbidity rate. Until recently, cutaneous histiocytoses were classified according to the immunophenotype of the pathological cells, with differentiation between Langerhans cell histiocytosis (LCH) [CD1a+, CD207 (langerin)+] and non-Langerhans cell histiocytosis (CD68+, CD163+, CD1a-, CD207-). Over the last 12 years, a number of new pathophysiological findings (in particular, molecular pathology results) regarding histiocytoses have contributed to a new classification based on molecular alterations, as well as on clinical and imaging characteristics and the phenotype. The most frequent entities in children are juvenile xanthogranuloma and LCH.
MeSH term(s)	Child ; Disease Progression ; Histiocytosis/pathology ; Histiocytosis, Langerhans-Cell/pathology ; Humans ; Skin/pathology ; Xanthogranuloma, Juvenile/pathology
Language	English
Publishing date	2021-12-26
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	131914-0
ISSN	1365-2559 ; 0309-0167
ISSN (online)	1365-2559
ISSN	0309-0167
DOI	10.1111/his.14569
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Article: Localisation hépatique isolée d’une histiocytose langerhansienne : à propos d’un cas.

Allaume, Pierre / Meneyrol, Eric / Bernard, Gontran / Houssel-Debry, Pauline / Emile, Jean-François / Turlin, Bruno

Annales de pathologie

2024 Volume 44, Issue 1, Page(s) 69–74

Abstract: Langerhans cell histiocytosis (LCH) is a disease whose physiopathology remains unclear, involving both inflammatory processes and clonal proliferation. It is observable at any given age, although about ten times more frequent in children than adults. ... ...

Title translation	Isolated liver involvement in Langerhans cell histiocytosis: A case report.
Abstract	Langerhans cell histiocytosis (LCH) is a disease whose physiopathology remains unclear, involving both inflammatory processes and clonal proliferation. It is observable at any given age, although about ten times more frequent in children than adults. Hepatic involvement is not rare, mostly part of a systemic disease, and linked to a poor prognosis. We report here a case of LCH with solitary hepatic involvement in a 74 year-old patient. This case demonstrated molecular anomaly of the MAPK pathway, BRAF N486_P490del. Through this observation, we precise the epidemiological and histological aspects and diagnostic criteria of this rare disease.
MeSH term(s)	Aged ; Humans ; Histiocytosis, Langerhans-Cell/diagnosis ; Liver/pathology ; Rare Diseases
Language	French
Publishing date	2024-01-11
Publishing country	France
Document type	Case Reports ; English Abstract ; Journal Article
ZDB-ID	225720-8
ISSN	0242-6498
ISSN	0242-6498
DOI	10.1016/j.annpat.2023.12.001
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Article ; Online: Treatment of Cerebral Histiocytosis With Low Dose of Cobimetinib: A Report of 2 Cases.

Schubert, Charlotte / Schiffmann, Insa / Farschtschi, Said C / Emile, Jean-François / Friese, Manuel A

Neurology(R) neuroimmunology & neuroinflammation

2024 Volume 11, Issue 3, Page(s) e200233

Abstract: Objectives: Histiocytic disorders are pathologic expansions of myeloid cells in multiple organs, including the CNS. They share activation of the MAP kinase pathway due to either : Methods: We present 2 histiocytosis cases without : Results: In ... ...

Abstract	Objectives: Histiocytic disorders are pathologic expansions of myeloid cells in multiple organs, including the CNS. They share activation of the MAP kinase pathway due to either Methods: We present 2 histiocytosis cases without Results: In both cases, comprehensive analysis of the RAS-RAF-MEK-ERK signaling pathway secured the diagnosis. Treatment with the MEK inhibitor cobimetinib brought the disease to a complete halt. However, side effects such as thrombosis and serous macular edema made it necessary to reduce cobimetinib dosage. Low-dose cobimetinib maintenance medication was successful in preventing recurrence of histiocytic disease. Discussion: CNS involvement of histiocytic disorders can lead to detrimental neurologic symptoms. MEK inhibitors are effective treatment options for some of these patients. Since side effects are common, according to our cases we propose a low-dose treatment of 20 mg per day to balance treatment effects with side effects. Classification of evidence: This case report provides Class IV evidence. This is a single observational study without controls.
MeSH term(s)	Humans ; Proto-Oncogene Proteins B-raf/genetics ; Proto-Oncogene Proteins B-raf/metabolism ; Mutation ; Histiocytosis/drug therapy ; Histiocytosis/chemically induced ; Histiocytosis/pathology ; Protein Kinase Inhibitors/adverse effects ; Mitogen-Activated Protein Kinase Kinases ; Azetidines ; Piperidines
Chemical Substances	cobimetinib (ER29L26N1X) ; Proto-Oncogene Proteins B-raf (EC 2.7.11.1) ; Protein Kinase Inhibitors ; Mitogen-Activated Protein Kinase Kinases (EC 2.7.12.2) ; Azetidines ; Piperidines
Language	English
Publishing date	2024-04-08
Publishing country	United States
Document type	Observational Study ; Case Reports ; Journal Article
ZDB-ID	2767740-0
ISSN	2332-7812 ; 2332-7812
ISSN (online)	2332-7812
ISSN	2332-7812
DOI	10.1212/NXI.0000000000200233
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Article: Granulomatous splenic mass with necrosis revealing an EBV-positive inflammatory follicular dendritic cell sarcoma.

Ungureanu, Irena Antonia / Lupinacci, Renato Micelli / Parrens, Marie / Emile, Jean-François

Journal of surgical case reports

2022 Volume 2022, Issue 5, Page(s) rjac034

Abstract: Epstein-Barr virus-positive inflammatory follicular dendritic cell sarcoma is a variant of follicular dendritic cell neoplasm most often arising in the liver or spleen. Two histological patterns can be identified in this variant, namely a granulomatous ... ...

Abstract	Epstein-Barr virus-positive inflammatory follicular dendritic cell sarcoma is a variant of follicular dendritic cell neoplasm most often arising in the liver or spleen. Two histological patterns can be identified in this variant, namely a granulomatous and an eosinophil-rich one. We present the case of a 69-year-old woman with a splenic mass. After being removed, the mass was gray-whitish with an area of necrosis. Histology showed a diffuse distribution of epithelioid granulomas in a background of a dense lymphoplasmacytic infiltrate. Rare atypical cells EBV+ and CD21+ were present in the intergranulomatous areas. Differential diagnosis for the granulomatous type EBV+ inflammatory follicular dendritic cell sarcoma includes infection, sarcoidosis, inflammatory myofibroblastic tumor, T cell lymphoma and vasculitis. The origin of this neoplasm is the follicular dendritic cell, and, due to its similarities with a myofibroblast, differential diagnosis can be challenging. Immunohistochemistry for dendritic markers and
Language	English
Publishing date	2022-05-05
Publishing country	England
Document type	Case Reports
ZDB-ID	2580919-2
ISSN	2042-8812
ISSN	2042-8812
DOI	10.1093/jscr/rjac034
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Article ; Online: PU.1 is a useful nuclear marker to distinguish between histiocytosis and histiocyte-rich tumours.

Ungureanu, Irena Antonia / Cohen-Aubart, Fleur / Héritier, Sébastien / Haroche, Julien / Donadieu, Jean / Emile, Jean-François

Histopathology

2023 Volume 83, Issue 2, Page(s) 320–325

Abstract: Aims: The aim was to test the expression of PU.1 on different types of histiocytoses and to test the utility of PU.1 in confirming or excluding a histiocytic origin in tumour samples with suspicion of histiocytosis.: Methods and results: We analysed ... ...

Abstract	Aims: The aim was to test the expression of PU.1 on different types of histiocytoses and to test the utility of PU.1 in confirming or excluding a histiocytic origin in tumour samples with suspicion of histiocytosis. Methods and results: We analysed 66 biopsies of nonmalignant histiocytoses represented by Langerhans-cell histiocytosis (n = 13), Erdheim-Chester disease (ECD) (n = 19), Rosai-Dorfman disease (RDD) (n = 14), mixed ECD-RDD (n = 3), ALK-positive histiocytosis (n = 6), and juvenile xanthogranuloma (n = 11). All cases were positive for PU.1 in reactive and neoplastic histiocytes. In addition, 39 cases of tumours with high-grade cytological atypia were referred to our center as suspicion of malignant histiocytosis/histiocytic sarcoma and only 18 were confirmed. Indeed, more than half of these tumours (21/39) were either undifferentiated malignant tumours with a stroma rich in histiocytes, diffuse large B-cell lymphoma, or high-grade dedifferentiated liposarcoma. PU.1 was useful to distinguish between the negativity of large atypical nuclei and the positivity of stromal reactive histiocytes. Conclusion: PU.1 is expressed by all types of histiocytosis. It distinguishes histiocytosis from histiocyte-rich tumours with an easy interpretation due to its sharp nuclear staining. Its negativity in lesional/tumour cells in histiocyte-like lesions is useful to eliminate a histiocytosis.
MeSH term(s)	Humans ; Histiocytes/pathology ; Histiocytosis/diagnosis ; Histiocytosis/pathology ; Histiocytosis, Langerhans-Cell/diagnosis ; Histiocytosis, Langerhans-Cell/pathology ; Histiocytosis, Sinus/metabolism ; Histiocytosis, Sinus/pathology ; Erdheim-Chester Disease/pathology ; Hematologic Neoplasms/pathology
Language	English
Publishing date	2023-04-03
Publishing country	England
Document type	Journal Article
ZDB-ID	131914-0
ISSN	1365-2559 ; 0309-0167
ISSN (online)	1365-2559
ISSN	0309-0167
DOI	10.1111/his.14909
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Article ; Online: Complete remission after a single bisphosphonate infusion in isolated bone Langerhans cell histiocytosis lesion: a case report and a narrative review of the literature.

Kachaner, Alexandra / Seror, Raphaèle / Aubart, Fleur Cohen / Henry, Julien / Lazure, Thierry / Emile, Jean François / Mariette, Xavier / Bitoun, Samuel

JBMR plus

2024 Volume 8, Issue 5, Page(s) ziae043

Abstract: Langerhans cell histiocytosis (LCH) is a rare disease with limited treatment options. We present a case involving a 57-year-old woman afflicted with an isolated LCH bone osteolytic lesion. A single bisphosphonate infusion significantly alleviated pain, ... ...

Abstract	Langerhans cell histiocytosis (LCH) is a rare disease with limited treatment options. We present a case involving a 57-year-old woman afflicted with an isolated LCH bone osteolytic lesion. A single bisphosphonate infusion significantly alleviated pain, and follow-up scans via CT, PET-CT, and MRI revealed a substantial recalcification of the lesion. Conducting an extensive literature review, we identified 46 cases documenting the efficacy of bisphosphonates in the context of LCH. These findings have raised interest in bisphosphonate infusion as a simple therapeutic alternative in similar situations, with benefits in terms of bone recalcification and pain control for individuals with LCH.
Language	English
Publishing date	2024-04-20
Publishing country	England
Document type	Case Reports
ISSN	2473-4039
ISSN (online)	2473-4039
DOI	10.1093/jbmrpl/ziae043
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Article: Les tumeurs stromales gastro-intestinales (GIST) - À l'avant-garde des thérapies ciblées antitumorales.

Emile, Jean-François

Medecine sciences : M/S

2013 Volume 29, Issue 6-7, Page(s) 630–636

Abstract: Although gastrointestinal stromal tumors (GIST) are the most frequent sarcomas, they were usually not diagnosed before 1998. GIST derive from interstitial cells of Cajal, and may develop along the digestive tract, mainly from stomach and small intestine. ...

Title translation	Gastrointestinal stromal tumors (GIST): at the forefront of targeted therapies.
Abstract	Although gastrointestinal stromal tumors (GIST) are the most frequent sarcomas, they were usually not diagnosed before 1998. GIST derive from interstitial cells of Cajal, and may develop along the digestive tract, mainly from stomach and small intestine. GIST are characterized by the expression of KIT (CD117), and mutations KIT or PDGFRA are present in 85 % of cases. More than 150 different types of mutations have been reported. They are responsible for a constitutive activation of these tyrosine kinase receptors, in absence of their specific ligand. Detection of these mutations may help to confirm the diagnosis or to evaluate the prognosis. The mutations also have a predictive value. Indeed patients with metastatic GIST and duplication within exon 9 of KIT deserve to receive twice the dose of imatinib, while GIST with PDGFRA p.D842 V mutation are resistant to this drug. This review presents the main characteristics of GIST, and focus on the important insights of studies on GIST and their cell models in the field of oncology.
MeSH term(s)	Gastrointestinal Stromal Tumors/drug therapy ; Gastrointestinal Stromal Tumors/genetics ; Humans ; Molecular Targeted Therapy ; Mutation ; Proto-Oncogene Proteins c-kit/genetics ; Receptor, Platelet-Derived Growth Factor alpha/genetics
Chemical Substances	Proto-Oncogene Proteins c-kit (EC 2.7.10.1) ; Receptor, Platelet-Derived Growth Factor alpha (EC 2.7.10.1)
Language	French
Publishing date	2013-06
Publishing country	France
Document type	English Abstract ; Journal Article ; Review
ZDB-ID	632733-3
ISSN	1958-5381 ; 0767-0974
ISSN (online)	1958-5381
ISSN	0767-0974
DOI	10.1051/medsci/2013296016
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Article ; Online: IgG4-related disease and Rosai-Dorfman-Destombes disease - Authors' reply.

Emile, Jean-François / Vaglio, Augusto / Cohen-Aubart, Fleur / Haroche, Julien

Lancet (London, England)

2021 Volume 398, Issue 10307, Page(s) 1214–1215

MeSH term(s)	Histiocytosis, Sinus/diagnosis ; Humans ; Immunoglobulin G ; Immunoglobulin G4-Related Disease/diagnosis
Chemical Substances	Immunoglobulin G
Language	English
Publishing date	2021-09-24
Publishing country	England
Document type	Letter ; Comment
ZDB-ID	3306-6
ISSN	1474-547X ; 0023-7507 ; 0140-6736
ISSN (online)	1474-547X
ISSN	0023-7507 ; 0140-6736
DOI	10.1016/S0140-6736(21)01811-0
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Article: Histiocytose de Rosai-Dorfman-Destombes extra-ganglionnaire du maxillaire : à propos d’un cas et revue de la littérature.

Vaquier, Louis / Abitbol, Chloé / Emile, Jean-François / Dossier, Antoine / Guyard, Alice / Hourseau, Muriel

Annales de pathologie

2022 Volume 42, Issue 3, Page(s) 264–268

Abstract: 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 ... ...

Title translation	Histiocytosis of Rosai-Dorfman-Destombes extranodal of the jawbone: Report of a case and review of the literature.
Abstract	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.
MeSH term(s)	Histiocytes/pathology ; Histiocytosis/pathology ; Histiocytosis, Sinus/diagnosis ; Histiocytosis, Sinus/pathology ; Humans ; Lymph Nodes/pathology ; Skin/pathology
Language	French
Publishing date	2022-01-13
Publishing country	France
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	225720-8
ISSN	0242-6498
ISSN	0242-6498
DOI	10.1016/j.annpat.2021.12.006
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