TY - JOUR
T1 - Erdheim–Chester disease: description of two illustrative cases involving the lung
AU - Zanelli, Magda
AU - Smith, Maxwell
AU - Mengoli, Maria C.
AU - Spaggiari, Lucia
AU - De Marco, Loredana
AU - Lococo, Filippo
AU - Puma, Francesco
AU - Ascani, Stefano
PY - 2018
Y1 - 2018
N2 - Aim: Erdheim–Chester disease represents a clonal systemic proliferation of histiocytes. Bone is the most common site of involvement, although almost any organ, including the lungs, can be affected. Methods and results: The diagnosis of Erdheim–Chester disease can be difficult, owing to its rarity and protean presentation. Correlation between clinical, radiological and histological findings is mandatory for identification of the disease. Foamy histiocytes, lacking Langerhans cell markers, represent the typical histological findings, although their absence does not rule out Erdheim–Chester disease. Identification of BRAF mutation can be helpful in making the diagnosis, and allows for the development and application of targeted therapies in this setting. Conclusions: Herein, we describe two cases presenting with lung involvement and vertebral lesions, lacking the more typical long-bone involvement. One case histologically mimicked Rosai–Dorfman disease. However, both cases harboured the pathognomonic BRAFV600E mutation.
AB - Aim: Erdheim–Chester disease represents a clonal systemic proliferation of histiocytes. Bone is the most common site of involvement, although almost any organ, including the lungs, can be affected. Methods and results: The diagnosis of Erdheim–Chester disease can be difficult, owing to its rarity and protean presentation. Correlation between clinical, radiological and histological findings is mandatory for identification of the disease. Foamy histiocytes, lacking Langerhans cell markers, represent the typical histological findings, although their absence does not rule out Erdheim–Chester disease. Identification of BRAF mutation can be helpful in making the diagnosis, and allows for the development and application of targeted therapies in this setting. Conclusions: Herein, we describe two cases presenting with lung involvement and vertebral lesions, lacking the more typical long-bone involvement. One case histologically mimicked Rosai–Dorfman disease. However, both cases harboured the pathognomonic BRAFV600E mutation.
KW - BRAF
KW - Erdheim-Chester disease
KW - Langherans cell histiocytosis
KW - Rosai-Dorfmann disease
KW - interstitial lung disease
KW - BRAF
KW - Erdheim-Chester disease
KW - Langherans cell histiocytosis
KW - Rosai-Dorfmann disease
KW - interstitial lung disease
UR - http://hdl.handle.net/10807/152004
U2 - 10.1111/his.13501
DO - 10.1111/his.13501
M3 - Article
SN - 0309-0167
VL - 73
SP - 167
EP - 172
JO - Histopathology
JF - Histopathology
ER -