Pulmonary Manifestations of Systemic Disease: Fellow Case Report Slide: Pulmonary Manifestations of Systemic Disease |

Pulmonary Overlap Histiocytosis: A Rare Case of Interstitial Lung Disease Due to Erdheim Chester Disease in a Patient With Langerhans Cell Histiocytosis and Myelodisplastic Syndrome FREE TO VIEW

Michael Fingerhood, MD; Seema Khutti, MD; Eli Diamond, MD; Alexander Geyer, MD
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Memorial Sloan Kettering Cancer Center, New York, NY

Copyright 2016, American College of Chest Physicians. All Rights Reserved.

Chest. 2016;150(4_S):1062A. doi:10.1016/j.chest.2016.08.1169
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SESSION TITLE: Fellow Case Report Slide: Pulmonary Manifestations of Systemic Disease

SESSION TYPE: Affiliate Case Report Slide

PRESENTED ON: Sunday, October 23, 2016 at 10:45 AM - 12:00 PM

INTRODUCTION: We report a case of Erdheim Chester Disease (ECD) presenting as interstitial lung disease (ILD) in a patient with Langerhans Cell Histiocytosis (LCH) and Myelodysplastic Syndrome (MDS). “Overlap” histiocytosis is important as LCH and ECD differ in treatment and prognosis.

CASE PRESENTATION: A 70 year old male with MDS and mucocutaneous, BRAF mutant LCH was referred for abnormal chest imaging. He denied other complaints. Exam was notable only for cutaneous LCH lesions. Medications included Decitabine. Chest CT revealed interlobular septal thickening, diffuse ground glass opacities, lobar consolidation and pleural effusions (Pic 1). Pulmonary function testing showed combined restrictive/obstructive ventilatory defects and reduced diffusing capacity. Thoracentesis yielded exudative, lymphocyte predominant and cytology negative fluid. Bronchoalveolar lavage cultures grew Mycobacterium Avium. Transbronchial biopsy revealed organizing pneumonia. Decitabine toxicity was suspected but despite a drug holiday and steroids, opacities increased on interval CT. Surgical biopsy revealed inflammation without organisms, multinucleated giant cells and histiocytes expressing S100 and factor XIIIa but not CD1a (Pic 2). ECD was diagnosed. Subsequent BRAF mutation tests returned positive, confirming overlap.

DISCUSSION: Histiocytic neoplasms are myeloproliferative disorders characterized by MAPK pathway alterations. A subgroup are termed LCH while the remainder are termed non-LCH disorders (ECD included). LCH and ECD are clinically similar, with a preference for skin and bone, but otherwise heterogeneous organ involvement, with lung lesions more common in ECD (Ref 1). On biopsy LCH and ECD both have dendritic cells, histiocytes and multinucleated giant cells. ECD cells express histiocyte markers and Factor XIIIa but, unlike LCH, only scant S100 and no CD1a. Treatment for LCH and ECD includes steroids and Interferon, respectively. Prognosis of overlap histiocytosis is worse than ECD (which is worse than LCH). While MDS often occurs with Histiocytic neoplasms (possibly due to common mutations or clonal origin), to our knowledge this is the first published case of Overlap histiocytosis causing ILD in an LCH patient with MDS.

CONCLUSIONS: We present a rare case of ILD due to Overlap Histiocytosis in a patient with LCH and MDS. As these myeloproliferative neoplasms may be causally associated, Overlap/ECD should be included in the differential diagnosis of ILD in all LCH patients.

Reference #1: Hervier et al. Blood. 2014 124: 1119-1126

DISCLOSURE: The following authors have nothing to disclose: Michael Fingerhood, Seema Khutti, Eli Diamond, Alexander Geyer

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