Cytomorphology of Erdheim–Chester disease presenting as a retroperitoneal soft tissue lesion

Abstract

Erdheim–Chester disease (ECD) is a rare, multisystem disorder of macrophages. Patients manifest with histiocytic infiltrates that lead to xanthogranulomatous lesions in multiple organ systems. The cytologic features of this disorder are not well characterized. As a result, the cytologic diagnosis of ECD can be very challenging. The aim of this report is to describe the cytomorphology of ECD in a patient presenting with a retroperitoneal soft tissue lesion. A 54-year-old woman with proptosis and diabetes insipidus was found on imaging studies to have multiple intracranial lesions, sclerosis of both femurs and a retroperitoneal soft tissue mass. Fine needle aspiration (FNA) and a concomitant core biopsy of this abnormal retroperitoneal soft tissue revealed foamy, epithelioid and multinucleated histiocytes associated with fibrosis. The histiocytes were immunoreactive for CD68, CD163, Factor XIIIa and fascin, and negative for S100, confirming the diagnosis of ECD. ECD requires a morphologic diagnosis that fits with the appropriate clinical context. This case describes the cytomorphologic features of ECD and highlights the role of cytology in helping reach a diagnosis of this rare disorder.

Erdheim‐Chester disease with prominent pericardial effusion

“…Pericardial effusion as a crucial presentation and/or first manifestation of ECD has been described, but none of these reports discuss the cytologic features of the effusion. Although the pathologic features, and much more rarely cytologic features, have been documented in the literature in osseous and other systemic sites, the diagnostic pathologic features of ECD in body fluids have not, to our knowledge, been previously described. As a result, the cytologic diagnosis of ECD can be very challenging .…”

“…Although the pathologic features, and much more rarely cytologic features, have been documented in the literature in osseous and other systemic sites, the diagnostic pathologic features of ECD in body fluids have not, to our knowledge, been previously described. As a result, the cytologic diagnosis of ECD can be very challenging . In this case, the diagnosis of ECD with pericardial involvement was established by the characteristic morphological features in effusion cytology specimen comprised of CD68 positive, CD1a and S100 negative lipid laden macrophages admixed with eosinophils, lymphocytes and Touton‐type giant cells.…”

“…There is a known association with neurofibromatosis type 1 . Reports detailing the cytologic features of ECD on Fine Needle Aspiration are rare, and to the best of out knowledge, cytologic diagnosis of ECD from a pericardial effusion has not been previously reported. We herein describe the cytologic features of the pericardial fluid in a case of ECD with pericardial involvement.…”

“…The disease was first described as “lipid granulomatosis” by William Chester in 1930 . ECD is a systemic disease with variable manifestations, including skeletal involvement, exophtalmos, diabetes insipidus, xanthelasma, interstitial lung disease, bilateral adrenal involvement, retroperitoneal fibrosis, testicular infiltration, and central nervous system and/or cardiovascular involvement . It is characterized by involvement of tissues by a prominent foamy histiocytic infiltrate, mononuclear inflammatory cells, Touton‐type giant cells, and fibrosis .…”

Xanthogranuloma of Bone: A Challenging Imitator of Malignancy

“…Erdheim-Chester disease is a rare, nonfamilial, systemic histiocytic disease of obscure etiology [13]. Patients typically present with XG lesions composed of non-Langerhans cell histiocytes in multiple organs, as well as osteosclerosis of the long bones.…”