Clonal reticulohistiocytosis of the skin and bone marrow associated with systemic mastocytosis and acute myeloid leukaemia

Fusco, Nicola; Bonometti, Arturo; Augello, Claudia; Fabris, Sonia; Boiocchi, Leonardo; Fiori, Stefano; Morotti, Denise; Fracchiolla, Nicola Stefano; Berti, Emilio; Gianelli, Umberto

doi:10.1111/his.13166

Cited by 8 publications

(18 citation statements)

References 27 publications

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“…1,[11][12][13] Giant cells may display emperipolesis of neutrophils or lymphocytes. 9 Lesions involving other tissues such as synovia, gastrointestinal mucosa, pleura or bone marrow show identical features with a lower number of giant cells. 14 In MR, fragmentation and phagocytosis of collagen (collagenophagocytosis) are reported in some cases.…”

Section: Histopathological and Immunohistochemical Findingsmentioning

confidence: 99%

“…In 2017, Fusco et al reported the case of a RH clonally related to an acute myeloid leukaemia (both harbouring a t(1;9)) providing for the first time evidence for a clonal origin of RH. 9 In 2019, Bonometti et al described the presence of the BRAFV600E mutation in a case of disseminated RH, 10 whereas Murakami and colleagues highlighted the presence of two possible driver mutations (i.e. mutations in MAP2K1 and TET2 genes) in one MR patient.…”

Section: Molecular Biology Of Reticulohistiocytosesmentioning

confidence: 99%

“…Sometimes, RH cells may be found in the bone marrow together with the malignant cells of a myeloid neoplasms. 9 Other symptoms, such as fatigue, dyspnoea or fever, largely depend on the haematological neoplasm. 65 RH-AHN is frequently misdiagnosed as generalized eruptive histiocytosis due to a descriptive use of such diagnostic category.…”

Section: Reticulohistiocytosis Associated With Haematological Neoplasmentioning

confidence: 99%

“…2,46 Periodic examinations are suggested to rule out possible systemic involvement or leukaemic evolution. 9 RH patients developing arthritis should be examined by a rheumatologist to rule out MR. If a diagnosis of MR is made treatment with corticosteroids, methotrexate, NSAID or IFN-alpha should be instituted.…”

Section: Evaluation and Managementmentioning

confidence: 99%

“…In the last 2 years, new clinical variants of RH have been described and the genetic landscape of these disorders has been finally revealed . Therefore, considering the current clinical heterogeneity of RH and the possible clinical impact of the new insights in RH biology, we hereby propose a revision of RH to (re)define the clinical boundaries of these rare disorders and to review their diagnostic and therapeutic management.…”

Section: Introductionmentioning

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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Section: Histopathological and Immunohistochemical Findingsmentioning

confidence: 99%

Section: Molecular Biology Of Reticulohistiocytosesmentioning

confidence: 99%

Section: Reticulohistiocytosis Associated With Haematological Neoplasmentioning

confidence: 99%

Section: Evaluation and Managementmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Reticulohistiocytoses: a revision of the full spectrum

Bonometti

Berti

Onlus³

2020

Acad Dermatol Venereol

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Mast Cells

2018

Atlas of Dermatopathology

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Cutaneous‐group histiocytoses associated with myeloid malignancies: A systematic review of 102 cases

et al. 2020

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Background: Histiocytoses are haematological disorders of bone marrow origin that share many biological and clinical features with haematological neoplasms. The association between histiocytoses of the cutaneous-group and myeloid malignancies is a poorly investigated topic of high biological and clinical impact.Methods: We performed a systematic review of the scientific literature, compliant with PRISMA guidelines, to unravel the clinical and pathological features of this intriguing association. Findings:We gathered and analysed 102 patients.Most were children with generalised cutaneous eruptions and displayed risk organ involvement (i.e. bone marrow, spleen, liver). Interestingly, all these features are uncommonly encountered in C-group histiocytosis not associated with haematological neoplasms. Conclusions:Our review shows that generalised eruptions and risk organ involvement in cutaneousgroup histiocytosis should raise a suspicion for a concomitant myeloid neoplasm both in children and in adults and warrant further investigations. A rapid recognition of this association is required to start a prompt and effective therapeutic management given the aggressive behaviour of the associated myeloid neoplasm in most instances.

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Clonal reticulohistiocytosis of the skin and bone marrow associated with systemic mastocytosis and acute myeloid leukaemia

Cited by 8 publications

References 27 publications

Reticulohistiocytoses: a revision of the full spectrum

Reticulohistiocytoses: a revision of the full spectrum

Mast Cells

Cutaneous‐group histiocytoses associated with myeloid malignancies: A systematic review of 102 cases

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