Juvenile Xanthogranuloma and Related Non-LCH Disorders

Ceppi, Francesco; Abla, Oussama

doi:10.1007/978-3-319-59632-7_17

Cited by 6 publications

(7 citation statements)

References 83 publications

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“…The focally high proliferation rate (up to 40%) in this MS4A6A‐BRAF JXG family lesion appeared to correlate with its aggressive clinical presentation, despite its seemingly low‐grade morphology. On the contrary, malignant histiocytic neoplasms lesions typically have aggressive clinical behavior, 19 unlike case 1, which after surgical excision had an indolent course.…”

Section: Discussionmentioning

confidence: 92%

BRAF fusions in pediatric histiocytic neoplasms define distinct therapeutic responsiveness to RAF paradox breakers

Jain

Surrey

Straka

et al. 2021

Pediatric Blood & Cancer

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Pediatric histiocytic neoplasms are hematopoietic disorders frequently driven by the BRAF‐V600E mutation. Here, we identified two BRAF gene fusions (novel MTAP‐BRAF and MS4A6A‐BRAF) in two aggressive histiocytic neoplasms. In contrast to previously described BRAF fusions, MTAP‐BRAF and MS4A6A‐BRAF do not respond to the paradox breaker RAF inhibitor (RAFi) PLX8394 due to stable fusion dimerization mediated by the N‐terminal fusion partners. This highlights a significant and clinically relevant shift from the current dogma that BRAF‐fusions respond similarly to BRAF‐inhibitors. As an alternative, we show suppression of fusion‐driven oncogenic growth with the pan‐RAFi LY3009120 and MEK inhibition.

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Section: Discussionmentioning

confidence: 92%

BRAF fusions in pediatric histiocytic neoplasms define distinct therapeutic responsiveness to RAF paradox breakers

Jain

Surrey

Straka

et al. 2021

Pediatric Blood & Cancer

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“…Though functional data predicts similar effects for these two novel fusions, each of these histiocytic neoplasms had a discordant clinical to pathologic behavior. Typical JXG family lesions often show indolent behavior in pediatric patients 19 . Even in rare systemic presentations, they do not typically feature a lymphatic-type dissemination, as demonstrated in case 2.…”

Section: Discussionmentioning

confidence: 99%

BRAF fusions in pediatric histiocytic neoplasms define distinct therapeutic responsiveness to RAF paradox breakers

Jain¹,

Surrey²,

Straka³

et al. 2020

Preprint

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Pediatric histiocytic neoplasms are hematopoietic disorders frequently driven by the BRAF-V600E mutation. Here we identified two BRAF gene fusions (novel MTAP-BRAF and MS4A6A-BRAF) in two aggressive histiocytic neoplasms. In contrast to previously described BRAF fusions, MTAP-BRAF and MS4A6A-BRAF do not respond to the paradox breaker RAF inhibitor (RAFi) PLX8394 due to stable fusion dimerization mediated by the N-terminal fusion partners. This highlights a significant and clinically relevant shift from the current dogma that BRAF-fusions respond similarly to BRAF-inhibitors. As an alternative, we show suppression of fusion-driven oncogenic growth with the pan-RAFi LY3009120 and MEK inhibition.

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“…Cutaneous lesions appear as pale yellow-tan papules, while visceral manifestations are generally nodular, of variable size and appearance. Systemic forms are rare, representing less than 5% of cases and predominantly involving lungs, long bones, peritoneum, pericardium and central nervous system [1][2][3].…”

Section: ' Introductionmentioning

confidence: 99%

“…Histiocytic neoplasms are a clinically heterogeneous group of rare disorders, which remain challenging to diagnose and treat. Adult onset Xanthogranuloma (AXG) is an uncommon histiocytic disorder that belongs to the Juvenile Xanthogranuloma (JXG) family [ 1 ], characterized by a clonal expansion of non-Langerhans cell histiocytes that share a dermal macrophage phenotype [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

Adult onset Xanthogranuloma presenting as a solitary laryngeal localization: case report and review of literature

et al. 2022

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Juvenile Xanthogranuloma (XG) is a rare disorder that belongs to the heterogeneous group of histiocytic neoplasms, characterized by a clonal expansion of non-Langerhans cell histiocytes that share a dermal macrophage phenotype. Although the head and neck region is the most common reported site of involvement by the Juvenile Xanthogranuloma family, laryngeal localization is extremely rare. We report a unique case of Adult Onset Xanthogranuloma with subglottic localization, presenting as a solitary laryngeal mass without other systemic or cutaneous lesions. A review of the previously described cases of laryngeal Xanthogranuloma has been performed, highlighting 7 cases of Juvenile Xanthogranuloma and only 3 cases of Adult Onset Xanthogranuloma. Despite the extreme rarity of laryngeal localization of XG, this histiocytic neoplasm should be considered as a differential diagnosis for laryngeal masses causing airway obstruction, even in the absence of other concomitant manifestations.

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Juvenile Xanthogranuloma and Related Non-LCH Disorders

Cited by 6 publications

References 83 publications

BRAF fusions in pediatric histiocytic neoplasms define distinct therapeutic responsiveness to RAF paradox breakers

BRAF fusions in pediatric histiocytic neoplasms define distinct therapeutic responsiveness to RAF paradox breakers

BRAF fusions in pediatric histiocytic neoplasms define distinct therapeutic responsiveness to RAF paradox breakers

Adult onset Xanthogranuloma presenting as a solitary laryngeal localization: case report and review of literature

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