Recurrent central nervous system Rosai-Dorfman disease with KRAS mutation: a case report
Abstract Background Rosai-Dorfman disease (RDD) is a rare, non-Langerhans cell histiocytosis of unknown etiology. we report a very rare case of recurrent central nervous system RDD with KRAS gene mutation and review the literature to improve our understanding of this disease. Case presentation A 19-...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2023-02-01
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| Series: | Diagnostic Pathology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13000-022-01276-7 |
| _version_ | 1797865690265288704 |
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| author | Qingyang Wang Hongxiang Ren Liyuan Zheng Juan Wang Dingrong Zhong |
| author_facet | Qingyang Wang Hongxiang Ren Liyuan Zheng Juan Wang Dingrong Zhong |
| author_sort | Qingyang Wang |
| collection | DOAJ |
| description | Abstract Background Rosai-Dorfman disease (RDD) is a rare, non-Langerhans cell histiocytosis of unknown etiology. we report a very rare case of recurrent central nervous system RDD with KRAS gene mutation and review the literature to improve our understanding of this disease. Case presentation A 19-year-old male patient was admitted to our hospital for headache. Cranial magnetic resonance imaging revealed a mass of abnormal signal shadows in the prepontine cistern. The mass was surgically removed and the patient was consequently diagnosed with intracranial Rosai-Dorfman disease. Seven months later, pathological examination confirmed that the RDD had recurred. Next-generation sequencing found KRAS mutation in exon 4 (C.351A > C. P. K117n). Conclusion RDD of the CNS has no distinct clinical manifestations and imaging characteristics, and the final diagnosis should be based on the results of the pathological examination. Although RDD is not currently classified as a neoplastic disorder, some evidence of clonality has changed our understanding of it. Follow up examinations over a long period are necessary to determine the efficacy of treatment. |
| first_indexed | 2024-04-09T23:13:20Z |
| format | Article |
| id | doaj.art-a528e99ffee94da9b4ba60060a591ee6 |
| institution | Directory Open Access Journal |
| issn | 1746-1596 |
| language | English |
| last_indexed | 2024-04-09T23:13:20Z |
| publishDate | 2023-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Diagnostic Pathology |
| spelling | doaj.art-a528e99ffee94da9b4ba60060a591ee62023-03-22T10:17:34ZengBMCDiagnostic Pathology1746-15962023-02-011811510.1186/s13000-022-01276-7Recurrent central nervous system Rosai-Dorfman disease with KRAS mutation: a case reportQingyang Wang0Hongxiang Ren1Liyuan Zheng2Juan Wang3Dingrong Zhong4Graduate School of Peking Union Medical CollegeDepartment of Neurosurgery, China-Japan Friendship HospitalDepartment of Pathology, China-Japan Friendship HospitalGraduate School of Peking Union Medical CollegeGraduate School of Peking Union Medical CollegeAbstract Background Rosai-Dorfman disease (RDD) is a rare, non-Langerhans cell histiocytosis of unknown etiology. we report a very rare case of recurrent central nervous system RDD with KRAS gene mutation and review the literature to improve our understanding of this disease. Case presentation A 19-year-old male patient was admitted to our hospital for headache. Cranial magnetic resonance imaging revealed a mass of abnormal signal shadows in the prepontine cistern. The mass was surgically removed and the patient was consequently diagnosed with intracranial Rosai-Dorfman disease. Seven months later, pathological examination confirmed that the RDD had recurred. Next-generation sequencing found KRAS mutation in exon 4 (C.351A > C. P. K117n). Conclusion RDD of the CNS has no distinct clinical manifestations and imaging characteristics, and the final diagnosis should be based on the results of the pathological examination. Although RDD is not currently classified as a neoplastic disorder, some evidence of clonality has changed our understanding of it. Follow up examinations over a long period are necessary to determine the efficacy of treatment.https://doi.org/10.1186/s13000-022-01276-7Rosai-Dorfman diseaseSinus histiocytosis with massive lymphadenopathyKRAS mutationCentral nervous system |
| spellingShingle | Qingyang Wang Hongxiang Ren Liyuan Zheng Juan Wang Dingrong Zhong Recurrent central nervous system Rosai-Dorfman disease with KRAS mutation: a case report Diagnostic Pathology Rosai-Dorfman disease Sinus histiocytosis with massive lymphadenopathy KRAS mutation Central nervous system |
| title | Recurrent central nervous system Rosai-Dorfman disease with KRAS mutation: a case report |
| title_full | Recurrent central nervous system Rosai-Dorfman disease with KRAS mutation: a case report |
| title_fullStr | Recurrent central nervous system Rosai-Dorfman disease with KRAS mutation: a case report |
| title_full_unstemmed | Recurrent central nervous system Rosai-Dorfman disease with KRAS mutation: a case report |
| title_short | Recurrent central nervous system Rosai-Dorfman disease with KRAS mutation: a case report |
| title_sort | recurrent central nervous system rosai dorfman disease with kras mutation a case report |
| topic | Rosai-Dorfman disease Sinus histiocytosis with massive lymphadenopathy KRAS mutation Central nervous system |
| url | https://doi.org/10.1186/s13000-022-01276-7 |
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