An extremely rare case of Rosai-Dorfman disease in the spleen

Abstract

Background Rosai-Dorfman disease (RDD) is a rare, multisystemic histiocytic disorder, and commonly manifesting as lymphadenopathy in the young male. Abdominal manifestations of RDD are extremely rare. Case presentation In August 2018, a 42-year-old man underwent an abdominal ultrasonography examination due to his weight loss of 10 kg in only three months and found a giant solid tumor was found in his spleen. Then, he was admitted to our hospital and diagnosed as a splenic mass via abdominal enhanced CT and MRI. Laparoscopic splenectomy was administrated within six days of admission due to the clear surgical indications. The pathogenesis of RDD remained poorly understood and the disease should be diagnosed based on histopathology and immunohistochemistry (IHC). The mutations in ATM and NFKBIA were observed using next generation sequencing (NGS). Conclusion We reported a case of splenic involvement of RDD with NGS genetic testing, indicating the difficulty of making a diagnosis before surgery. This extremely rare case offers new references for the understanding of abdominal viscera RDD.

Primary unifocal thymic Rosai-Dorfman disease: an extremely rare challenge in diagnostic practice

“…As we noted, the expression of CD163 is stronger than CD68 in RDD. Recently, OCT2, a B-cell and monocyte transcription factor that undergoes downregulation after differentiation of monocytes and dendritic cells, has been confirmed to be overexpressed in RDD [ 4 , 22 ]. Use of antibodies against OCT2 is currently recommended in the immunostaining panel for the diagnosis of RDD.…”

“…Although classic RDD was originally described as a form of lymphadenopathy, more than one-quarter of patients diagnosed with this disorder present with extranodal manifestations [ 2 ]. The most frequent sites of extranodal involvement are the skin, upper respiratory tract, orbits, testes and bones [ 4 ]. In this report, we present a rare case of primary RDD detected in the thymus.…”

An extremely rare case of Rosai–Dorfman disease in the thymus

“…It usually accompanied with other systemic symptoms such as fever, malaise, night sweats, or weight loss in the short term. Extranodal involvement was also common, and skin, upper respiratory, orbits, testes, and bones were common sites [ 2 ].…”

“…Spontaneous remission is observed and “wait and watch” approach is recommended [ 5 , 6 ]. Other treatments include surgical resection, chemotherapy, radiotherapy, steroids, and low dose interferon are used in several patients [ 2 ]. Very limited clinical trials have been done using chemotherapy and radiotherapy therefore the effectiveness of these methods still remains to be unclear.…”

“…Rosai–Dorfman disease (RDD) was first described by Rosai and Dorfman in 1969, accounting for 0.5% or less of all mediastinal tumors [ 1 ]. RDD disease is a non-Langerhans cell histiocytic condition more commonly seen in children and young adults, which presents fever and painless cervical lymphadenopathy [ 2 ]. We herein report a rare case of RDD of thymic origin and a review of several cases concerning the clinical and pathological features of this disease, which is often misdiagnosed as thymoma.…”