<i>BRAF</i>
            -V600E mutant papillary craniopharyngioma dramatically responds to combination BRAF and MEK inhibitors

Roque, Ashley; Odia, Yazmín

doi:10.2217/cns-2016-0034

Cited by 75 publications

(54 citation statements)

References 12 publications

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“…The efficacy of the dabrafenib/trametinib combination in pediatric brain tumors with BRAF V600E mutations is supported in a recently published case report. In the report, a refractory BRAF‐V600E mutant papillary craniopharyngioma showed a marked reduction in size and symptomatology after administration of the dabrafenib/trametinib combination …”

Section: Discussionmentioning

confidence: 99%

Response to the BRAF/MEK inhibitors dabrafenib/trametinib in an adolescent with a BRAF V600E mutated anaplastic ganglioglioma intolerant to vemurafenib

Marks

Bindra

DiLuna

et al. 2018

Pediatric Blood & Cancer

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Efficacy of BRAF V600E targeted therapies in brain tumors harboring the mutation has been shown in several case reports and is currently being studied in larger clinical trials. Monotherapy with vemurafenib has been associated with significant side effects, including rashes, papillomas, and squamous cell carcinomas. Here we describe an adolescent female with anaplastic ganglioglioma and significant skin reaction to vemurafenib with subsequent tumor response and tolerance to the BRAF/MEK inhibitor combination of dabrafenib and trametinib without recurrence of previous reaction.

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Section: Discussionmentioning

confidence: 99%

Response to the BRAF/MEK inhibitors dabrafenib/trametinib in an adolescent with a BRAF V600E mutated anaplastic ganglioglioma intolerant to vemurafenib

Marks

Bindra

DiLuna

et al. 2018

Pediatric Blood & Cancer

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“…Immediate structured, multidisciplinary postsurgical and long-term follow-up of these patients is paramount for achieving better long-term outcomes. In the future, the develop-ment of molecularly targeted treatment, which is currently already used in some pCP patients [16][17][18][19], might be an alternative path to better outcomes in all forms of CP, minimizing damage caused to the hypothalamus by current treatment modalities.…”

Section: Discussionmentioning

confidence: 99%

“…Adamantinomatous CP (aCP) is the main histological subtype in childhood, and papillary CP (pCP) occurs mostly in the adult population. In pCP, BRAF′ mutation is the principal oncogenic driver and is recently a molecularly targeted therapy (BRAF inhibitor) in recurrent tumors, showed promising results, with dramatic reduction in tumor size [15][16][17][18][19][20]. In aCP, mutations in CTNNB1 are found in two thirds of patients, activating the WNT/ β-catenin pathway, leading to activation/inhibition of several other pathways.…”

Section: Introductionmentioning

confidence: 99%

Prevalence of Endocrine and Metabolic Comorbidities in a National Cohort of Patients with Craniopharyngioma

et al. 2020

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Objective: The major part of craniopharyngioma (CP) morbidity is the tumor and/or treatment-related damage, which results in impaired function of the hypothalamic-pituitary axes and metabolic derangements. The aim of the study was to analyze the prevalence of long-term endocrine and metabolic comorbidities in a national cohort of CP patients based on the age at diagnosis and histology criteria. Design: A retrospective-prospective longitudinal cohort analysis. Methods: Forty-six patients with CP treated from 1979 onwards (19 with childhood-onset disease) in a single university institution were included in our study. Median follow-up from presentation was 12.8 years (interquartile range: 8.3-22.2 years) and comparable between age-at-diagnosis and histological subtype groups. Data on tumor histology were extracted from patients' records and re-evaluated if tissue samples were available (n = 32). Results: Childhood-onset patients presented more frequently with headache, and adult-onset with visual impairment. Prevalence of at least one pituitary axis affected increased from 54% at presentation to 100% at follow-up in childhood-onset and from 41 to 93% in adult-onset CP. Growth hormone deficiency, central diabetes insipidus, and panhypopituitarism were more prevalent in childhood-onset adamantinomatous CP (aCP) and least prevalent in adult-onset papillary CP (pCP). At followup, metabolic syndrome (MetS) was diagnosed in 80% of childhood-onset and 68% of adult-onset patients (p = 0.411). In the latter group, it tended to be more frequent in the aCP than pCP subtype (80 vs. 50%, p = 0.110). Conclusions: Long-Long-Term Outcomes in Craniopharyngioma 47 Horm Res Paediatr 2020;93:46-57 term endocrine and metabolic complications are very frequent in childhood-and adult-onset CP patients of both histological subtypes. The prevalence of MetS was higher compared to the largest cohort previously reported.

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“…BRAF inhibitors, including vemurafenib and dabrafenib, have proved successful either alone or in conjunction with trametinib, an inhibitor of another MAPK member MEK, to treat adults with papillary craniopharyngioma, resulting in tumor shrinkage with good tolerability [2,5,24,25]. In addition, increasing pediatric data is emerging for BRAF and MEK inhibitors in the treatment of surgically inaccessible gliomas that express BRAF V600E mutations, with an acceptable side effect profile in this age group [1,3,4,16,18,29].…”

Section: Discussionmentioning

confidence: 99%

Papillary craniopharyngioma in a 4-year-old girl with BRAF V600E mutation: a case report and review of the literature

et al. 2018

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Introduction Craniopharyngiomas are one of the most frequently diagnosed hypothalamo-pituitary tumors in childhood. The adamantinomatous histological subtype accounts for most pediatric cases, while the papillary variant is almost exclusively diagnosed in adults. Here, we report a case of papillary craniopharyngioma in a very young child, confirmed by molecular tissue analysis. Case report A 4-year-old girl was being investigated for symptomatic central hypothyroidism. Brain MR imaging revealed a large solid/cystic suprasellar mass, splaying the optic chiasm and measuring 3 × 1.9 × 2.3 cm. The patient underwent a transsphenoidal near total resection of the lesion, which was encased within a tumor capsule. Post-operatively, the patient developed transient diabetes insipidus but otherwise recovered well. The pathology of the lesion was consistent with a papillary craniopharyngioma with regions of stratified squamous epithelium accompanied by superficial goblet cells and ciliated cells. Subsequent next-generation sequencing analysis of the lesion confirmed the presence of a BRAF V600E mutation (BRAFc.1799T>A p. (Val600Glu). To date, she remains free from progression 1 year following surgery. Conclusion This is the youngest case published to date of papillary craniopharyngioma with a confirmed BRAF V600E mutation. The case encourages discussion about the most appropriate adjuvant therapy for tumor progression in such cases, given the risks of radiotherapy to the developing brain and the increasing availability of oral BRAF inhibitor therapy.

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BRAF -V600E mutant papillary craniopharyngioma dramatically responds to combination BRAF and MEK inhibitors

Cited by 75 publications

References 12 publications

Response to the BRAF/MEK inhibitors dabrafenib/trametinib in an adolescent with a BRAF V600E mutated anaplastic ganglioglioma intolerant to vemurafenib

Response to the BRAF/MEK inhibitors dabrafenib/trametinib in an adolescent with a BRAF V600E mutated anaplastic ganglioglioma intolerant to vemurafenib

Prevalence of Endocrine and Metabolic Comorbidities in a National Cohort of Patients with Craniopharyngioma

Papillary craniopharyngioma in a 4-year-old girl with BRAF V600E mutation: a case report and review of the literature

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