Peritoneal or mesenteric tumours revealing histiocytosis

Cohen‐Aubart, Fleur; Ungureanu, Irena Antonia; Razanamahery, J.; Charlotte, Frédéric; Valmary‐Degano, Séverine; Hélias‐Rodzewicz, Zofia; Cazals–Hatem, Dominique; Dartigues, Peggy; Delage-Corre, Manuela; Sèlves, Janick; Tas, Patrick; Humbert, S.; Malakhia, Alexandre; Kunnamo, Merja; Veresezan, Liana; Prokopiou, Chrystalla; Seeber, Andreas; Tazi, Abdellatif; Donadieu, Jean; Lucidarme, Olivier; Haroche, Julien; Émile, Jean-François

doi:10.1136/bmjgast-2021-000622

Cited by 3 publications

(2 citation statements)

References 26 publications

(36 reference statements)

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“…Furthermore, we identified MAP2K1 alterations in 20% of RDD cases and in one patient with JXG. Previous publications have reported MAP2K1 mutations in 11%–30% of pediatric LCH patients 5–7 and more rarely in other histiocytosis types 8,12,35,36 . Because non‐ BRAF V600E ‐mutated LCH cases constitute half of our LCH cohort, we can estimate that MAP2K1 mutations are found in 21% of childhood LCH, in accordance with previously published data.…”

Section: Discussionsupporting

confidence: 92%

Molecular and clinicopathologic characterization of pediatric histiocytoses

Hélias‐Rodzewicz

Donadieu²,

Terrones

et al. 2023

American J Hematol

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The spectrum of somatic mutations in pediatric histiocytoses and their clinical implications are not fully characterized, especially for non-Langerhans cell histiocytosis (-LCH) subtypes. A cohort of 415 children with histiocytosis from the French histiocytosis registry was reviewed and analyzed for BRAF V600E . Most BRAF WT samples were analyzed by next-generation sequencing (NGS) with a custom panel of genes for histiocytosis and myeloid neoplasia. Of 415 case samples, there were 366 LCH, 1 Erdheim-Chester disease, 21 Rosai-Dorfman disease (RDD), 21 juvenile xanthogranuloma (JXG, mostly with severe presentation), and 6 malignant histiocytosis (MH).BRAF V600E was the most common mutation found in LCH (50.3%, n = 184). Among 105 non-BRAF V600E -mutated LCH case samples, NGS revealed mutations as follows:MAP2K1 (n = 44), BRAF exon 12 deletions (n = 26), and duplications (n = 8), other BRAF V600 codon mutation (n = 4), and non-MAP-kinase pathway genes (n = 5).Wild-type sequences were identified in 17.1% of samples. BRAF V600E was the only variant significantly correlated with critical presentations: organ-risk involvement and Jean-François Emile and Sébastien Heritier contributed equally to this study.

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Section: Discussionsupporting

confidence: 92%

Molecular and clinicopathologic characterization of pediatric histiocytoses

Hélias‐Rodzewicz

Donadieu²,

Terrones

et al. 2023

American J Hematol

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“…ECD rarely infiltrates the BM [ 11 ]. Cohen-Aubart et al recently reported a series of 22 ECD patients with peritoneal and mesenteric involvement, among whom one patient presented with peripheral edema [ 12 ]. An ECD patient with ascites has also been previously reported [ 13 ].…”

Section: Discussionmentioning

confidence: 99%

Dramatic Response After Switching MEK Inhibitors in a Patient With Refractory Mixed Histiocytosis

Roeser¹,

Jouenne²,

Vercellino³

et al. 2022

J Hematol

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We report the case of a patient with progressive multisystem mixed histiocytosis associating Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) involving the bone marrow, whose lesions harbored the MAP2K1 E102-I103del. After initial improvement under the MEK inhibitor trametinib, the treatment was only partially efficient and poorly tolerated. Eventually, although the trough blood level of trametinib at steady state was within expected ranges, the disease progressed to a life-threatening situation, with peritoneal involvement and anasarca. Switching to the MEK inhibitor cobimetinib as a salvage therapy resulted in a dramatic, rapid disease response, and the patient remains disease-free 3 years later with the treatment. The load of the MAP2K1 deletion in peripheral blood was correlated with the disease activity and strongly declined with cobimetinib, although it remained detectable at the last follow-up.

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Challenges in the Histopathologic Diagnosis of Histiocytic Neoplasms

Rech

2021

Journal of the National Comprehensive Cancer Network

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Histiocytic neoplasms, including Langerhans cell histiocytosis (LCH), Erdheim-Chester disease (ECD), and Rosai-Dorfman disease (RDD), present a diagnostic challenge due to nonspecific fibroinflammatory infiltrates and a diverse clinical presentation. The pathologist can play a key role in classification of these disorders through multidisciplinary collaboration and correlation of pathologic features with clinical and radiologic findings. The histopathologic differential diagnosis is broad, requiring knowledge of the possible diagnoses at each specific anatomic site, and a careful assessment to exclude other inflammatory and neoplastic disorders. An immunohistochemistry panel including CD163, CD1a, langerin, S100, Factor XIIIa, OCT2, and BRAF V600E can provide definitive diagnosis in LCH and RDD, whereas ECD requires classic clinical features as well as confirmation of an activating MAPK pathway mutation by genetic studies.

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Peritoneal or mesenteric tumours revealing histiocytosis

Cited by 3 publications

References 26 publications

Molecular and clinicopathologic characterization of pediatric histiocytoses

Molecular and clinicopathologic characterization of pediatric histiocytoses

Dramatic Response After Switching MEK Inhibitors in a Patient With Refractory Mixed Histiocytosis

Challenges in the Histopathologic Diagnosis of Histiocytic Neoplasms

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