Evidence of BRAF V600E in indeterminate cell tumor and interdigitating dendritic cell sarcoma

O’Malley, Dennis P.; Agrawal, Renuka; Grimm, Kate E.; Hummel, Jennifer; Glazyrin, Alexey; Dim, Daniel; Madhusudhana, Sheshadri; Weiss, Lawrence M.

doi:10.1016/j.anndiagpath.2015.02.008

Cited by 63 publications

(50 citation statements)

References 17 publications

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“…Electron microscopy confirmed the absence of Birbeck granules, which was in line with the negative CD207/Langerin staining and excluded Langerhans cell histiocytosis. Genetic analyses with the Taqman hotspot mutation panel for the RAS-RAF-MEK pathway revealed no mutations in the MAPK pathway, as suggested by the literature 3. Nevertheless, in paraffin-embedded representative tumour tissue, we detected a gene fusion of ETV3 exon 4 (NM_001145312.1): NCOA2 exon 14 (NM_006540.2).…”

Section: Investigationssupporting

confidence: 69%

Special variant of histiocytosis

2017

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Section: Investigationssupporting

confidence: 69%

Special variant of histiocytosis

2017

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“…10 More recently, one B-RAF V600E mutation was detected in a case of interdigitating dendritic cell sarcoma, characterized by aggressive clinical behavior and lack of responsiveness to chemotherapy. 41 As far as hematological malignancies are concerned, B-RAF mutations have been found in the majority of hairy cell leukemia, but not in other B-cell malignancies. In this disease a potential pathogenetic role has been suggested and some experiences of targeted treatment have been published.…”

Section: Discussionmentioning

confidence: 99%

Braf mutation in interdigitating dendritic cell sarcoma: a case report and review of the literature

Liso

Pennelli

Lodovichetti

et al. 2015

Cancer Biology & Therapy

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Interdigitating dendritic cell sarcoma is an extremely rare tumor. The diagnosis is difficult and is based on clinical, pathological and immunohistochemical evaluation. Differential diagnosis includes melanoma, mesenchymal and hematological malignancies. The mainstay of treatment is surgery for limited disease and different chemotherapy combinations have been tested for advanced disease. No evidence from prospective trials is currently available. We report the case of a 59 year-old male patient who experienced axillary lymphadenopathy with initial diagnosis of large-cell lung cancer on tumor biopsy. He underwent surgical resection with radical intent. Pathological diagnosis of interdigitating dendritic cell sarcoma was obtained on surgical samples. Nine months after radical surgery, he experienced systemic recurrence of disease and underwent chemotherapy with epirubicin and ifosfamide for 4 courses. During chemotherapy, he developed brain disease progression and underwent whole-brain radiotherapy. Systemic progression was then observed and molecular characterization was performed. B-RAF evaluation resulted positive for V600E mutation and the patient was treated with Vemurafenib according to molecular findings. He thus obtained initial clinical benefit but eventually died of brain hemorrhage. In conclusion, we report a case of B-RAF mutation detected in an interdigitating dendritic cell sarcoma patient treated with targeted therapy. B-RAF pathway could have a role in pathogenesis and evolution of this rare disease and could open new perspectives of treatment

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“…ICH is a very rare entity, with similar clinical presentation, that may have BRAF mutations. 16 The recent discovery of ETV3-NCOA2 translocations in 3 cases of ICH suggests that (1) this fusion may be highly specific for ICH and (2) ICH may represent a distinct clonal neoplasm. 17 Thus, the diagnosis of LCH should include CD1a and CD207 immunostaining.…”

Section: Langerhans Cell Histiocytosismentioning

confidence: 99%

“…BRAF mutations were absent or only rarely detected in other histiocytoses. 6,16,[43][44][45] In our experience, the presence of BRAF mutation is useful to confirm difficult diagnoses of LCH or ECD. BRAFV600E mutations have been detected in cell-free DNA extracted from plasma in patients with disseminated LCH 46 or ECD.…”

mentioning

confidence: 99%

Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages

Emile

Abla

Fraïtag

et al. 2016

Blood

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The histiocytoses are rare disorders characterized by the accumulation of macrophage, dendritic cell, or monocyte-derived cells in various tissues and organs of children and adults. More than 100 different subtypes have been described, with a wide range of clinical manifestations, presentations, and histologies. Since the first classification in 1987, a number of new findings regarding the cellular origins, molecular pathology, and clinical features of histiocytic disorders have been identified. We propose herein a revision of the classification of histiocytoses based on histology, phenotype, molecular alterations, and clinical and imaging characteristics. This revised classification system consists of 5 groups of diseases: (1) Langerhans-related, (2) cutaneous and mucocutaneous, and (3) malignant histiocytoses as well as (4) Rosai-Dorfman disease and (5) hemophagocytic lymphohistiocytosis and macrophage activation syndrome. Herein, we provide guidelines and recommendations for diagnoses of these disorders.

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Evidence of BRAF V600E in indeterminate cell tumor and interdigitating dendritic cell sarcoma

Cited by 63 publications

References 17 publications

Special variant of histiocytosis

Special variant of histiocytosis

Braf mutation in interdigitating dendritic cell sarcoma: a case report and review of the literature

Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages

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