Erdheim-Chester disease with concomitant Rosai-Dorfman like lesions: a distinct entity mainly driven by <i>MAP2K1</i>

Razanamahery, J.; Diamond, Eli L.; Cohen‐Aubart, Fleur; Plate, Karl-Heinz; Lourida, Giota; Charlotte, Frédéric; Hélias‐Rodzewicz, Zofia; Goyal, Gaurav; Go, Ronald S.; Doğan, Ahmet; Abdel‐Wahab, Omar; Durham, Benjamin H.; Özkaya, Neval; Amoura, Zahir; Émile, Jean-François; Haroche, Julien

doi:10.3324/haematol.2019.216937

Cited by 43 publications

(40 citation statements)

References 14 publications

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“…119 Erdheim-Chester disease may also co-occur with RDD, which mostly occurs in males, is almost always extranodal, frequently involves the testes, and most commonly is driven by MAP2K1 mutation. 69 In addition, the presence of a BRAF V600 mutation in the tissue specimen nearly rules out RDD. Hence, in patients with nonclassic phenotypes or unclear histopathologic features, we recommend pursuing molecular profiling using target capture next-generation sequencing for MAPK/ERK and PI3K/AKT pathway gene mutations because the presence of such mutations can help in establishing the diagnosis of a Other features (combined with any major feature) 1.…”

Section: Initial Evaluation and Diagnostic Testsmentioning

confidence: 99%

The Mayo Clinic Histiocytosis Working Group Consensus Statement for the Diagnosis and Evaluation of Adult Patients With Histiocytic Neoplasms: Erdheim-Chester Disease, Langerhans Cell Histiocytosis, and Rosai-Dorfman Disease

Goyal

Young

Koster

et al. 2019

Mayo Clinic Proceedings

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Histiocytic neoplasms, a rare and heterogeneous group of disorders, primarily include Erdheim-Chester disease, Langerhans cell histiocytosis, and Rosai-Dorfman disease. Due to their diverse clinical manifestations, the greatest challenge posed by these neoplasms is the establishment of a diagnosis, which often leads to a delay in institution of appropriate therapy. Recent insights into their genomic architecture demonstrating mitogen-activated protein kinase/extracellular signaleregulated kinase pathway mutations have now enabled potential treatment with targeted therapies in most patients. This consensus statement represents a joint document from a multidisciplinary group of physicians at Mayo Clinic who specialize in the management of adult histiocytic neoplasms. It consists of evidence-and consensus-based recommendations on when to suspect these neoplasms and what tests to order for the diagnosis and initial evaluation. In addition, it also describes the histopathologic and individual organ manifestations of these neoplasms to help the clinicians in identifying their key features. With uniform guidelines that aid in identifying these neoplasms, we hope to improve the awareness that may lead to their timely and correct diagnosis.

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Section: Initial Evaluation and Diagnostic Testsmentioning

confidence: 99%

The Mayo Clinic Histiocytosis Working Group Consensus Statement for the Diagnosis and Evaluation of Adult Patients With Histiocytic Neoplasms: Erdheim-Chester Disease, Langerhans Cell Histiocytosis, and Rosai-Dorfman Disease

Goyal

Young

Koster

et al. 2019

Mayo Clinic Proceedings

Self Cite

139

160

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“…Moreover, the recent description of 'ECD with RDD-like lesions' further widened the diagnostic overlap between these entities and reduced the role of histopathology in the differential diagnosis of histiocytic disorders. 35…”

Section: Histopathological Differential Diagnosismentioning

confidence: 99%

“…36 Moreover, in our opinion the description of MAP2K1 mutation in MR strengthens the possibility of a diagnostic overlap between RH and those MS cases of NLCH classified as 'ECD with Rosai-Dorfman-like lesions'. 35…”

Section: Molecular Biology Of Reticulohistiocytosesmentioning

confidence: 99%

“…Interestingly, disseminated RH may be consider as a synonym of the previously mentioned 'ECD with Rosai-Dorfman-like lesions'. 35 Multisystem arthropathic reticulohistiocytosis: the 'multicentric reticulohistiocytosis'…”

Section: Single-system Multifocal Reticulohistiocytosis: Diffuse (Genmentioning

confidence: 99%

“…As a consequence, RH/DRDD overlap may be partly caused by the more diffuse knowledge of DRDD among surgical pathologists as opposed to RH (being mainly a dermatopathologically‐recognized entity). Moreover, the recent description of ‘ECD with RDD‐like lesions’ further widened the diagnostic overlap between these entities and reduced the role of histopathology in the differential diagnosis of histiocytic disorders …”

Section: Histopathology and Molecular Biologymentioning

confidence: 99%

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Reticulohistiocytoses: a revision of the full spectrum

Bonometti

Berti

Onlus³

2020

Acad Dermatol Venereol

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Reticulohistiocytoses (RH) are rare and clinically heterogeneous histiocytic disorders of dermatological interest. Three clinical entities with superimposable histopathological features are currently considered, namely solitary reticulohistiocytoma, diffuse/generalized reticulohistiocytosis and multicentric reticulohistiocytosis. Although in the last decade, RH studies have only minimally progressed, histiocytosis research has advanced considerably: the prognostic and therapeutic importance of the clinical subclassification of histiocytosis patients as well as of the detection of genetic alterations in the genes of the ERK pathway has been highlighted. According to these insights, we previously reported the presence of molecular alteration RH and described a subset of patients with disseminated multisystem involvement lacking arthritis. In the present review, we aim to update and revise the knowledge regarding RH. We first reviewed their histopathological, immunophenotypical and ultrastructural features, discussed their histopathological differential diagnosis with other conditions characterized by infiltrates made of oncocytic or epithelioid cells (with special regard to Destombes-Rosai-Dorfman disease) and finally summarized the molecular landscape of RH. We therefore tried to adjust the clinical subclassification of Langerhans cell histiocytosis to the clinical phenotypes of RH, outlining five clinically different groups of patients. Finally, we reconsidered the clinical workflow to the evaluation of RH patients, in light of the 5 different clinical groups and discussed the different therapeutic approaches and the possible role of target inhibitors.

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