A lethal intracranial <scp>R</scp>osai‐<scp>D</scp>orfman disease of the brainstem diagnosed at autopsy

Imada, Hiroki; Sakatani, Takashi; Sawada, Mikio; Matsuura, Tetsuya; Fukushima, Noriyoshi; Nakano, Imaharu

doi:10.1111/pin.12331

Cited by 11 publications

(4 citation statements)

References 8 publications

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“…Although most commonly presenting as bilateral cervical lymphadenopathy, approximately 40% of cases involve extranodal tissues . Involvement of the central nervous system (CNS) is rare, and only a handful of cases involve the CNS exclusively . Although this disease is fatal only in a minority of cases (5–10%), CNS lesions can prove fatal because of their location .…”

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confidence: 93%

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BRAF mutation leading to central nervous system rosai‐dorfman disease

Richardson

Wachsmann

Oliver

et al. 2018

Annals of Neurology

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Rosai-Dorfman disease (RDD) is an uncommon histiocytic proliferative disorder that can present in nodal, extranodal, or, extremely rarely, in central nervous system (CNS)-restricted form. RDD is characterized histologically as a non-Langerhans cell histiocytosis composed of atypical CD68 /S-100 /CD1a macrophages demonstrating prominent emperipolesis and effacement of the surrounding tissue. Previously thought to represent a reactive process, recent studies have raised the possibility that RDD and other histiocytic lesions, including Erdheim-Chester and Langerhans cell histiocytosis, are clonal processes linked to somatic mutations in the mitogen-activated protein (MAP) kinase pathway. Herein, we present a fatal case of RDD isolated to the CNS and used a next-generation targeted gene panel and Sanger sequencing to uncover a pathogenic deletion in the β3-αC loop of the kinase domain in exon 12 of BRAF. This mutation, previously described in melanoma and Langerhans cell histiocytosis, represents the first BRAF mutation of this kind identified in RDD. These findings support the idea that RDD is a neoplastic condition and raise the possibility that inhibitors of the MAP kinase pathway may be effective in RDD. Ann Neurol 2018;83:147-152.

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confidence: 93%

“…Involvement of the central nervous system (CNS) is rare, and only a handful of cases involve the CNS exclusively . Although this disease is fatal only in a minority of cases (5–10%), CNS lesions can prove fatal because of their location . Malignant transformation to histiocytic sarcoma has also been observed in rare cases …”

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confidence: 99%

BRAF mutation leading to central nervous system rosai‐dorfman disease

Richardson

Wachsmann

Oliver

et al. 2018

Annals of Neurology

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“…Kasuda et al [64] thought that urinalysis may help to estimate PMI depending on VWF detection using ELISA. Zhang et al [16] utilized the ELISA method to detect biomarkers of cantharidin-induced myocardial damage, which indicated that the plasma levels of TN-T and HIF-1α/TN-T can help to definite the cardiotoxicity, and the value of VEGF/HIF-1α has a strong association with PMI within 168 h. However, the study of PMI estimation with ELISA needs a lot of samples to validate, due to irregular variation in postmortem body fluids (for example, the autolysis of blood, etc. ).…”

Section: Enzyme-linked Immunosorbent Assay (Elisa) and Western Blotmentioning

confidence: 99%

The Role of Protein Degradation in Estimation Postmortem Interval and Confirmation of Cause of Death in Forensic Pathology: A Literature Review

Huang,

Zhao,

Liu

et al. 2024

IJMS

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It is well known that proteins are important bio-macromolecules in human organisms, and numerous proteins are widely used in the clinical practice, whereas their application in forensic science is currently limited. This limitation is mainly attributed to the postmortem degradation of targeted proteins, which can significantly impact final conclusions. In the last decade, numerous methods have been established to detect the protein from a forensic perspective, and some of the postmortem proteins have been applied in forensic practice. To better understand the emerging issues and challenges in postmortem proteins, we have reviewed the current application of protein technologies at postmortem in forensic practice. Meanwhile, we discuss the application of proteins in identifying the cause of death, and postmortem interval (PMI). Finally, we highlight the interpretability and limitations of postmortem protein challenges. We believe that utilizing the multi-omics method can enhance the comprehensiveness of applying proteins in forensic practice.

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“…Intracranial masses are homogeneously enhanced, located on the base of the dura mater, external to the brain parenchyma with vasogenic edema [35,36] . Moreover, changes are well-restricted and located on convexities regions, parasagittal, cranial base, sellar and super-sellar areas [37,38] .…”

Section: Radiological Featuresmentioning

confidence: 99%

Intracranial Rosai-Dorfman Disease: pathophysiology, diagnosis and treatment

Szymoniuk

Dryla

Pytka

et al. 2022

J Educ Health Sport

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Introduction and purpose: Rosai-Dorfman Disease (RDD), known also as sinus histiocytosis with massive lymphadenopathy(SHML) is a benign histiocytic proliferative syndrome. The etiology and pathogenesis of RDD remains unclear. Central nervous system involvement is a rare event and concerns approximately 7.8% of RDD cases, whereas intracranial lesions constitute almost 90% of CNS-RDD cases. The aim of this literature review was to summarize current knowledge about the diagnosis and treatment of intracranial manifestation of RDD. We also described possible hypotheses regarding the pathophysiology of this disorder. State of knowledge: Even though Rosai-Dorfman disease was thought to be a reactive process, recent evidencedemonstrate the presence of clonality, which means that in this histiocytosis the process that underlies the pathology is neoplastic. Intracranial lesions caused by RDD can be easily misdiagnosed with many diseases such as meningiomas, malignant gliomas or metastatic tumors. The final diagnosis of Rosai-Dorfman disease should be made based on histologic and immunohistochemical examinations. Current therapeutic options for this condition include surgery, radiotherapy, chemotherapy, corticosteroids and immunotherapy. Surgical treatment often constitutes the first-line treatment for intracranial RDD and is the most beneficial treatment option. However, the implementation of adjuvant therapies is very important to avoid the recurrence of lesions, which appear in approximately 14% of subjects after about 10 years from surgery. Conclusion: This literature review presents current data about pathophysiology, diagnosis and treatment of intracranial involvement of Rosai-Dorfman disease. Further studies on this topic should focus on exploring etiologic mechanisms underlying on this pathology and comparing available treatment methods.

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A lethal intracranial Rosai‐Dorfman disease of the brainstem diagnosed at autopsy

Cited by 11 publications

References 8 publications

BRAF mutation leading to central nervous system rosai‐dorfman disease

BRAF mutation leading to central nervous system rosai‐dorfman disease

The Role of Protein Degradation in Estimation Postmortem Interval and Confirmation of Cause of Death in Forensic Pathology: A Literature Review

Intracranial Rosai-Dorfman Disease: pathophysiology, diagnosis and treatment

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