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Clonal reticulohistiocytosis of the skin and bone marrow associated with systemic mastocytosis and acute myeloid leukaemia
Author(s) -
Fusco Nicola,
Bonometti Arturo,
Augello Claudia,
Fabris Sonia,
Boiocchi Leonardo,
Fiori Stefano,
Morotti Denise,
Fracchiolla Nicola,
Berti Emilio,
Gianelli Umberto
Publication year - 2017
Publication title -
histopathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.626
H-Index - 124
eISSN - 1365-2559
pISSN - 0309-0167
DOI - 10.1111/his.13166
Subject(s) - pathology , fluorescence in situ hybridization , bone marrow , monosomy , biology , systemic mastocytosis , histopathology , myeloid , medicine , karyotype , chromosome , immunology , genetics , gene
Aims The aims of this study were to define whether diffuse cutaneous reticulohistiocytosis could be underpinned by somatic genetic alterations and represent a precursor of more aggressive forms of disease. Methods and results A 59‐year‐old man with diffuse cutaneous reticulohistiocytosis experienced bone marrow localization of the disease, with associated systemic mastocytosis and acute myeloid leukaemia. Cytogenetic analyses of the bone marrow aspirate revealed the presence of a derivative chromosome giving rise to a partial trisomy of chromosome 1q and a partial monosomy of chromosome 9q. Therefore, we characterized the cutaneous lesions before and after chemotherapy by using an integrative approach combining histopathology, electron microscopy, and fluorescence in‐situ hybridization. Histologically, the skin lesions belonged to the spectrum of diffuse cutaneous reticulohistiocytoses, as confirmed by immunohistochemistry and ultrastructural analyses. Fluorescence in‐situ hybridization in the skin nodules confirmed the presence of the genetic alterations previously detected in the bone marrow. Conclusions Here, we provide circumstantial evidence to suggest that at least a subset of cutaneous reticulohistiocytoses harbour clonal molecular alterations. Furthermore, we confirm that these lesions have the potential to arise in the setting of concurrent haematological disorders. In this hypothesis‐generating study, two possible tumorigenesis models are proposed.