Epidemiology and outcomes of rosai-dorfman-destombes disease (RDD): A ten year single-center real world experience

Abstract

Abstract Introduction - Rosai-Dorfman disease (RDD) is a rare non-Langerhans cell histiocytosis that typically causes painless lymphadenopathy, with the potential to cause multi-organ involvement and a wide array of symptoms, predominantly affecting children and young adults. Much of the primary data driving current diagnostic and treatment paradigms is from the 1990's or early 2000's, with the last formal update to classification and treatment recommendations from 2016-2018. There is a dearth of recent trends in characteristics and outcomes of patients living with RDD. Methods - Temple University Health System's database was scanned for patients with diagnosis codes of RDD between 2010-2024. 81 patient charts were reviewed. After excluding patients without a diagnosis of RDD, 26 patients with biopsy-proven RDD were included. Socio-demographic, comorbidities, treatments, outcomes, and RDD-associated variables were collected. Results - The median age in this study's population was 50.5 (18-84) years. There was a female predominance, with 62% females (n=16) and 38% males (n=10). Racial distribution included 35% Caucasians (n=9), 46% African Americans (n=12), and 19% Hispanics (n=5). For insurance, 27% had Medicaid (n=7), 38% Medicare (n=10), 23% private insurance (n=6), and 12% no insurance (n=3). For substance use, 46% had history of alcohol use (n=12) and 31% tobacco use (n=8). For comorbidities, 38% had diabetes (n=10), 62% hypertension (n=16), 12% heart disease (n=3), 8% chronic lung disease (n=2), 12% chronic kidney disease (n=3), and 8% osteoarthritis (n=2). Of note, 31% (n=8) were overweight and 54% (n=14) obese (mean BMI 33.4 kg/m2, range 20.7-53.1 kg/m2). Two of the patients (8%) had autoimmune diseases. Pre-existing solid malignancies were seen in 19% (n=5). Primary sites of disease included cervical lymph nodes (LN) (15%,n=4), axillary LN (12%,n=3), breast (12%,n=3), and soft tissue (12% n=3). Organ involvement was in 46% (n=12) including bone (8%, n=2), lung (8%,n=2), cutaneous (4%,n=1), and GU tract (4%,n=1). There were 35% nodal (classic) cases (n=9), 58% extranodal (n=15), and 8% cutaneous (n=2). Patients largely presented with asymptomatic swelling of primary site (n=13), pain (n=5), B symptoms (n=3), and incidental imaging finding (n=3). Lab abnormalities included low hemoglobin (Hb) (n=9) with mean 10.3 g/dL (7.3-12.5 g/dL), thrombocytosis (mean 589cells/µL, 111-226 cells/µL), and hyperglycemia (mean 159mg/dL, 111-226mg/dL). Most patients (88%, n=23) underwent further imaging at workup. After diagnosis, 46% patients (n=12) were placed on observation and so far 1 of them progressed needing treatment . There were 50% of patients (n=13) who received treatment at diagnosis; 27% (n=7) underwent surgical resection alone, 8% (n=2) surgery and radiation, and 15% (n=4) received systemic therapy with steroids. Of the 9 patients treated with surgery, 77% (n=7) had complete response (CR), including the two cases of surgery with radiation, and 22% (n=2) had progressive disease (PD). Of the 2 surgically treated patients at diagnosis with PD, 1 received no other treatment and 1 got second line treatment with steroids, to which they had a partial response (PR). Of the 19% (n=5) that received systemic steroids, 20% (n=1) had PR, 20% (n=1) had PR followed by PD, and 60% (n=3) had stable disease (SD). Of the surgically treated patients, 2 of those who initially had CR ultimately relapsed, 1 of whom received another surgery with CR and the other who received no second line treatment. The one patient who received steroids with PR followed by PD next received chemotherapy with Vincristine and Rituxan with resultant SD. One patient treated with steroids and resultant SD also received second line treatment with Rituxan, but had following PD. None of the patients had treatment complications. Mean follow-up time was 49 months (6.7-198.6 months). Four deaths occurred in this cohort (15%), all of whom had underlying malignancies. Conclusion - This analysis reports demographics, disease characteristics, treatment, and outcomes for RDD in a cancer center with a predominantly African American population with public insurance. In contrast to previous literature, we observed predominance of patients who are middle age, female, either overweight or obese, and with extranodal disease. This review of rare patient cases is a noteworthy addition to the modern cases of RDD that will shape the next set of guidelines to diagnose and treat RDD.