Rosai–Dorfman Disease between Proliferation and Neoplasia
Rosai–Dorfman disease (RDD) is a rare myeloproliferative disorder of histiocytes with a broad spectrum of clinical manifestations and peculiar morphologic features (accumulation of histiocytes with emperipolesis). Typically, the patient with RDD shows bilateral painless, massive cervical lymphadenop...
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MDPI AG
2022-10-01
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| Series: | Cancers |
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| author | Ismail Elbaz Younes Lubomir Sokol Ling Zhang |
| author_facet | Ismail Elbaz Younes Lubomir Sokol Ling Zhang |
| author_sort | Ismail Elbaz Younes |
| collection | DOAJ |
| description | Rosai–Dorfman disease (RDD) is a rare myeloproliferative disorder of histiocytes with a broad spectrum of clinical manifestations and peculiar morphologic features (accumulation of histiocytes with emperipolesis). Typically, the patient with RDD shows bilateral painless, massive cervical lymphadenopathy associated with B symptoms. Approximately 43% of patients presented with extranodal involvement. According to the 2016 revised histiocytosis classification, RDD belongs to the R group, including familial and sporadic form (classical nodal, extranodal, unclassified, or RDD associated with neoplasia or immune disease). Sporadic RDD is often self-limited. Most RDD needs only local therapies. Nevertheless, a small subpopulation of patients may be refractory to conventional therapy and die of the disease. Recent studies consider RDD a clonal neoplastic process, as approximately 1/3 of these patients harbor gene mutations involving the MAPK/ERK pathway, e.g., <i>NRAS</i>, <i>KRAS</i>, <i>MAP2K1</i>, and, rarely, the <i>BRAF</i> mutation. In addition to typical histiocytic markers (S100/fascin/CD68/CD163, etc.), recent studies show that the histiocytes in RDD also express BCL-1 and OCT2, which might be important in pathogenesis. Additionally, the heterozygous germline mutation involving the FAS gene <i>TNFRSF6</i> is identified in some RDD patients with an autoimmune lymphoproliferative syndrome type Ia. <i>SLC29A3</i> germline mutation is associated with familial or Faisalabad histiocytosis and H syndrome. |
| first_indexed | 2024-03-09T19:13:43Z |
| format | Article |
| id | doaj.art-e3d341b1de1149a09a79318c88e4661c |
| institution | Directory Open Access Journal |
| issn | 2072-6694 |
| language | English |
| last_indexed | 2024-03-09T19:13:43Z |
| publishDate | 2022-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cancers |
| spelling | doaj.art-e3d341b1de1149a09a79318c88e4661c2023-11-24T04:01:46ZengMDPI AGCancers2072-66942022-10-011421527110.3390/cancers14215271Rosai–Dorfman Disease between Proliferation and NeoplasiaIsmail Elbaz Younes0Lubomir Sokol1Ling Zhang2Department of Pathology, Cleveland Clinic, Cleveland, OH 44195, USADepartment of Hematology and Oncology, Moffitt Cancer Center, Tampa, FL 33612, USADepartment of Pathology, Moffitt Cancer Center, Tampa, FL 33612, USARosai–Dorfman disease (RDD) is a rare myeloproliferative disorder of histiocytes with a broad spectrum of clinical manifestations and peculiar morphologic features (accumulation of histiocytes with emperipolesis). Typically, the patient with RDD shows bilateral painless, massive cervical lymphadenopathy associated with B symptoms. Approximately 43% of patients presented with extranodal involvement. According to the 2016 revised histiocytosis classification, RDD belongs to the R group, including familial and sporadic form (classical nodal, extranodal, unclassified, or RDD associated with neoplasia or immune disease). Sporadic RDD is often self-limited. Most RDD needs only local therapies. Nevertheless, a small subpopulation of patients may be refractory to conventional therapy and die of the disease. Recent studies consider RDD a clonal neoplastic process, as approximately 1/3 of these patients harbor gene mutations involving the MAPK/ERK pathway, e.g., <i>NRAS</i>, <i>KRAS</i>, <i>MAP2K1</i>, and, rarely, the <i>BRAF</i> mutation. In addition to typical histiocytic markers (S100/fascin/CD68/CD163, etc.), recent studies show that the histiocytes in RDD also express BCL-1 and OCT2, which might be important in pathogenesis. Additionally, the heterozygous germline mutation involving the FAS gene <i>TNFRSF6</i> is identified in some RDD patients with an autoimmune lymphoproliferative syndrome type Ia. <i>SLC29A3</i> germline mutation is associated with familial or Faisalabad histiocytosis and H syndrome.https://www.mdpi.com/2072-6694/14/21/5271Rosai–Dorfman diseasesinus histiocytosisMAPK pathwaygene mutationhistiocytic disorder |
| spellingShingle | Ismail Elbaz Younes Lubomir Sokol Ling Zhang Rosai–Dorfman Disease between Proliferation and Neoplasia Cancers Rosai–Dorfman disease sinus histiocytosis MAPK pathway gene mutation histiocytic disorder |
| title | Rosai–Dorfman Disease between Proliferation and Neoplasia |
| title_full | Rosai–Dorfman Disease between Proliferation and Neoplasia |
| title_fullStr | Rosai–Dorfman Disease between Proliferation and Neoplasia |
| title_full_unstemmed | Rosai–Dorfman Disease between Proliferation and Neoplasia |
| title_short | Rosai–Dorfman Disease between Proliferation and Neoplasia |
| title_sort | rosai dorfman disease between proliferation and neoplasia |
| topic | Rosai–Dorfman disease sinus histiocytosis MAPK pathway gene mutation histiocytic disorder |
| url | https://www.mdpi.com/2072-6694/14/21/5271 |
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