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Cancers Oct 2022Rosai-Dorfman disease (RDD) is a rare myeloproliferative disorder of histiocytes with a broad spectrum of clinical manifestations and peculiar morphologic features... (Review)
Review
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., , , , and, rarely, the 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 is identified in some RDD patients with an autoimmune lymphoproliferative syndrome type Ia. germline mutation is associated with familial or Faisalabad histiocytosis and H syndrome.
PubMed: 36358690
DOI: 10.3390/cancers14215271 -
Asian Journal of Surgery Apr 2023
Topics: Humans; Histiocytosis, Sinus; Diagnosis, Differential; Thymus Gland
PubMed: 36280490
DOI: 10.1016/j.asjsur.2022.09.136 -
JAAD Case Reports Nov 2022
PubMed: 36262360
DOI: 10.1016/j.jdcr.2022.09.004 -
JAMA Oncology Dec 2022Rosai-Dorfman disease (RDD) is a rare histiocytic neoplasm with recent studies showing alterations in the MAPK pathway, most commonly in the KRAS and MEK genes in about...
IMPORTANCE
Rosai-Dorfman disease (RDD) is a rare histiocytic neoplasm with recent studies showing alterations in the MAPK pathway, most commonly in the KRAS and MEK genes in about 40% of patients. Reports on the use of MEK-inhibitor therapy in RDD have been limited to small case studies. There are no approved treatments for this neoplasm, and therefore patients with RDD need efficacious treatments.
OBJECTIVE
To study the outcomes after treatment with cobimetinib based on MAPK pathway alterations in patients with RDD.
DESIGN, SETTING, AND PARTICIPANTS
This retrospective cohort study conducted at 2 tertiary care centers included patients with RDD who underwent treatment with cobimetinib between January 1, 2013, and December 1, 2021. Cobimetinib was administered at a dosage of 20 to 60 mg orally once daily as a single agent for 21 days in a 28-day cycle. Pathology was centrally reviewed. Response assessment was centrally conducted and was based on the established positron emission radiography response criteria used for clinical trials of targeted therapies in histiocytosis.
MAIN OUTCOMES AND MEASURES
Main outcomes were overall response rate (ORR), progression-free survival (PFS), adverse events (AEs) of cobimetinib in the entire cohort, and ORRs and PFS based on MAPK pathway alterations in patients with RDD.
RESULTS
A total of 16 patients (median [range] age at cobimetinib initiation, 57 [31-74] years; 11 [69%] women) were included in the study. The median follow-up duration was 19.0 months (95% CI, 8.4-27.8 months). The ORR was 63% (n = 10), including 5 complete responses and 5 partial responses. Somatic alterations in the KRAS or MEK genes were detected in 8 (50%) patients. Patients with KRAS or MEK alterations had significantly higher ORR (88% vs 38%; P = .03), deeper responses (complete responses among responders: 71% vs 0%; P = .002), and better PFS (at 1 year, 100% vs 29% were free from progression or death, respectively; P < .001) compared with those without such alterations. Grade 2 or higher AEs occurred in 12 (75%) patients, and 9 (56%) required dose reduction or temporary/permanent treatment discontinuation due to AEs.
CONCLUSIONS AND RELEVANCE
In this cohort study, treatment with cobimetinib was associated with positive outcomes in KRAS- or MEK-variant RDD. However, AEs requiring dose modifications were common.
Topics: Humans; Female; Adult; Middle Aged; Aged; Male; Histiocytosis, Sinus; Proto-Oncogene Proteins p21(ras); Retrospective Studies; Cohort Studies; Neoplasms; Mitogen-Activated Protein Kinase Kinases
PubMed: 36201194
DOI: 10.1001/jamaoncol.2022.4432 -
Dermatologic Therapy Nov 2022
Topics: Humans; Histiocytosis, Sinus; Thalidomide; COVID-19 Vaccines; COVID-19; Skin Diseases; Vaccination
PubMed: 36175132
DOI: 10.1111/dth.15864 -
Cureus Aug 2022Rosai-Dorfman disease (RDD) is a rare condition characterized by the proliferation of non-Langerhans cell histiocytes that are associated with phagocytosed lymphocytes...
Rosai-Dorfman disease (RDD) is a rare condition characterized by the proliferation of non-Langerhans cell histiocytes that are associated with phagocytosed lymphocytes (emperipolesis). Clinically, it is classified into nodal, extra-nodal, neoplasia-associated RDD, and immune-related. Here, we present a case of a 65-year-old female who presented with facial pain following a dental procedure with no focal neurologic deficit. The MRI of the head and neck showed a well-defined lobulated soft tissue lesion with homogenous enhancement over the left cheek. Excision of the lesion was done, and the histopathological study reported extra-nodal RDD with features of IgG4-related sclerosing disease. The patient had no recurrence over the two years from the date of diagnosis.
PubMed: 36106222
DOI: 10.7759/cureus.27704 -
The American Journal of Case Reports Aug 2022BACKGROUND Histiocytic disorders, a group of disorders with heterogeneous pathogenesis, morphology, and clinical presentation, include Rosai-Dorfman disease, Langerhans...
BACKGROUND Histiocytic disorders, a group of disorders with heterogeneous pathogenesis, morphology, and clinical presentation, include Rosai-Dorfman disease, Langerhans cell histiocytosis, and Erdheim-Chester disease. They can mimic primary or metastatic tumors, both clinically and radiologically, when involving the brain. Therefore, it is crucial to present and discuss cases of histiocytic disorder involving the central nervous system (CNS) to provide new information on disease presentation and diagnosis more. In this paper, we present 2 cases of histiocytic lesions involving the brain and mimicking primary brain tumors. CASE REPORT Case 1: A 65-year-old man presented with increasing memory loss, confusion, and depression. CT scans showed an isolated 2.9×2.0×0.6 cm intracranial hypothalamic lesion. Case 2: A 61-year-old woman presented with dizziness and confusion for 3 weeks and headaches for 1 day. MRI showed a single 5.0×4.0×3.3 cm extra-axial, dural-based, avidly enhancing, well-defined lesion along the left parietal convexity causing mass effect upon the underlying brain parenchyma, left atrial effacement, and minimal vasogenic edema. CONCLUSIONS Histiocytic disorders are relatively rare in the CNS compared with other locations and mimic more common entities in the brain, such as glioma or metastatic tumors. Despite its rarity, one should remain aware of the condition and consider it in the differential diagnosis. This article provides a brief review and adds pivotal data to the literature.
Topics: Aged; Brain Neoplasms; Diagnosis, Differential; Female; Histiocytosis, Sinus; Humans; Magnetic Resonance Imaging; Male; Middle Aged
PubMed: 35971309
DOI: 10.12659/AJCR.935885 -
Asian Journal of Surgery Feb 2023
Review
Topics: Humans; Histiocytosis, Sinus; Lymphadenopathy; Diagnosis, Differential
PubMed: 35963679
DOI: 10.1016/j.asjsur.2022.07.150 -
Indian Journal of Dermatology,... 2023
Topics: Humans; Lymphadenopathy; Histiocytosis, Sinus; Neck; Face; Lymph Nodes
PubMed: 35962502
DOI: 10.25259/IJDVL_960_2021 -
Asian Journal of Surgery Feb 2023
Topics: Humans; Histiocytosis, Sinus; Diagnosis, Differential; Hypopituitarism
PubMed: 35961894
DOI: 10.1016/j.asjsur.2022.07.095