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

Abstract:

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.

journal_name

Histopathology

journal_title

Histopathology

authors

Fusco N,Bonometti A,Augello C,Fabris S,Boiocchi L,Fiori S,Morotti D,Fracchiolla N,Berti E,Gianelli U

doi

10.1111/his.13166

subject

Has Abstract

pub_date

2017-05-01 00:00:00

pages

1000-1008

issue

6

eissn

0309-0167

issn

1365-2559

journal_volume

70

pub_type

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    更新日期:1994-01-01 00:00:00

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    pub_type: 杂志文章,评审

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    更新日期:2010-08-01 00:00:00

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    pub_type: 杂志文章

    doi:10.1111/j.1365-2559.2007.02634.x

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    更新日期:2007-03-01 00:00:00