Mediastinal Rosai-Dorfman Disease with KRAS mutation case report and literature review
Abstract Background Rosai-Dorfman Disease (RDD) is a rare self-limiting histiocytosis, more prevalent in children and young adults. It typically manifests as painless bilateral massive cervical lymphadenopathy but may also extend to extra-nodal sites, with intrathoracic RDD noted in 2% of cases. Dis...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2024-04-01
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| Series: | Journal of Cardiothoracic Surgery |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13019-024-02668-0 |
| _version_ | 1797219603666960384 |
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| author | Wenyu Zhang Linan Fang Jing Wang Xiaobo Ma Xintong Hu Wei Liu |
| author_facet | Wenyu Zhang Linan Fang Jing Wang Xiaobo Ma Xintong Hu Wei Liu |
| author_sort | Wenyu Zhang |
| collection | DOAJ |
| description | Abstract Background Rosai-Dorfman Disease (RDD) is a rare self-limiting histiocytosis, more prevalent in children and young adults. It typically manifests as painless bilateral massive cervical lymphadenopathy but may also extend to extra-nodal sites, with intrathoracic RDD noted in 2% of cases. Distinguishing mediastinal RDD from thymoma on imaging poses challenges, underscoring the reliance on pathological features and immunohistochemical staining for diagnosis. Case presentation Patient, male, 33 years old, underwent lung a CT revealing an enlarged round soft tissue shadow in the anterior superior mediastinum, compared to a year ago. Surgical resection removed the entire mass, thymus, and part of the pericardium, confirming RDD on pathology. Genetic testing using second-generation testing technology identified a KRAS gene point mutation. Conclusions No established treatment protocol currently exists for this disease. However, as genetic mutation research progresses, a novel therapeutic avenue is emerging: targeted therapy integrated with surgical interventions. |
| first_indexed | 2024-04-24T12:36:16Z |
| format | Article |
| id | doaj.art-7f7fd6a8241a479f93bc1e96bb243699 |
| institution | Directory Open Access Journal |
| issn | 1749-8090 |
| language | English |
| last_indexed | 2024-04-24T12:36:16Z |
| publishDate | 2024-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Cardiothoracic Surgery |
| spelling | doaj.art-7f7fd6a8241a479f93bc1e96bb2436992024-04-07T11:30:19ZengBMCJournal of Cardiothoracic Surgery1749-80902024-04-011911710.1186/s13019-024-02668-0Mediastinal Rosai-Dorfman Disease with KRAS mutation case report and literature reviewWenyu Zhang0Linan Fang1Jing Wang2Xiaobo Ma3Xintong Hu4Wei Liu5Department of Thoracic Surgery, the First Hospital of Jilin UniversityDepartment of Thoracic Surgery, the First Hospital of Jilin UniversityDepartment of Radiology, the First Hospital of Jilin UniversityDepartment of Pathology, the First Hospital of Jilin UniversityGenetic Diagnosis Center, the First Hospital of Jilin UniversityDepartment of Thoracic Surgery, the First Hospital of Jilin UniversityAbstract Background Rosai-Dorfman Disease (RDD) is a rare self-limiting histiocytosis, more prevalent in children and young adults. It typically manifests as painless bilateral massive cervical lymphadenopathy but may also extend to extra-nodal sites, with intrathoracic RDD noted in 2% of cases. Distinguishing mediastinal RDD from thymoma on imaging poses challenges, underscoring the reliance on pathological features and immunohistochemical staining for diagnosis. Case presentation Patient, male, 33 years old, underwent lung a CT revealing an enlarged round soft tissue shadow in the anterior superior mediastinum, compared to a year ago. Surgical resection removed the entire mass, thymus, and part of the pericardium, confirming RDD on pathology. Genetic testing using second-generation testing technology identified a KRAS gene point mutation. Conclusions No established treatment protocol currently exists for this disease. However, as genetic mutation research progresses, a novel therapeutic avenue is emerging: targeted therapy integrated with surgical interventions.https://doi.org/10.1186/s13019-024-02668-0Rosai–Dorfman diseaseSinus histiocytosis with massive lymphadenopathyMediastinal diseasesImmunohistochemistryKRAS mutation |
| spellingShingle | Wenyu Zhang Linan Fang Jing Wang Xiaobo Ma Xintong Hu Wei Liu Mediastinal Rosai-Dorfman Disease with KRAS mutation case report and literature review Journal of Cardiothoracic Surgery Rosai–Dorfman disease Sinus histiocytosis with massive lymphadenopathy Mediastinal diseases Immunohistochemistry KRAS mutation |
| title | Mediastinal Rosai-Dorfman Disease with KRAS mutation case report and literature review |
| title_full | Mediastinal Rosai-Dorfman Disease with KRAS mutation case report and literature review |
| title_fullStr | Mediastinal Rosai-Dorfman Disease with KRAS mutation case report and literature review |
| title_full_unstemmed | Mediastinal Rosai-Dorfman Disease with KRAS mutation case report and literature review |
| title_short | Mediastinal Rosai-Dorfman Disease with KRAS mutation case report and literature review |
| title_sort | mediastinal rosai dorfman disease with kras mutation case report and literature review |
| topic | Rosai–Dorfman disease Sinus histiocytosis with massive lymphadenopathy Mediastinal diseases Immunohistochemistry KRAS mutation |
| url | https://doi.org/10.1186/s13019-024-02668-0 |
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