Treatment with BRAF/MEK: inhibitors in mutant BRAF V600E papillary craniopharyngioma
Craniopharyngiomas (CPs) are rare brain epithelial tumours arising in the suprasellar region, infiltrating adjacent areas causing visual loss, panhypopituitarism, cognitive deficits and morbid obesity. Papillary CPs (PCPs) harbour in 94% BRAF mutation cases. Two patients with PCP and BRAF V600E muta...
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Bioscientifica
2024-12-01
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| Series: | Endocrine Oncology |
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| Online Access: | https://eo.bioscientifica.com/view/journals/eo/4/1/EO-24-0024.xml |
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| author | Eva Marie Erfurth Peter Siesjö Pia C Sundgren Björn Hammar Sara Kinhult |
| author_facet | Eva Marie Erfurth Peter Siesjö Pia C Sundgren Björn Hammar Sara Kinhult |
| author_sort | Eva Marie Erfurth |
| collection | DOAJ |
| description | Craniopharyngiomas (CPs) are rare brain epithelial tumours arising in the suprasellar region, infiltrating adjacent areas causing visual loss, panhypopituitarism, cognitive deficits and morbid obesity. Papillary CPs (PCPs) harbour in 94% BRAF mutation cases. Two patients with PCP and BRAF V600E mutations but with different tumour status were treated with BRAF and MEK inhibitors. Case I was diagnosed with biopsy and treated for 16 months with BRAF and MEK inhibitors. After 3.5 months, there was a 50% reduction of the tumour volume, and after 13 months, the tumour volume decreased from 2220 to 90 mm3 (96%). Two months after stopping the drugs, he was treated with fractionated cranial irradiation (54 Gy). No recurrence of the PCP was recorded. Eight months after stopping the drugs, he was diagnosed with an adenocarcinoma of the oesophagus, which led to his death 12 months later. In case II, a woman had had four surgeries due to recurrences of a PCP, and a BRAF V600E mutation was confirmed. After a new recurrence measuring 14 × 12 × 18 mm, she was started on BRAF and MEK inhibitors. After 4 months of treatment, a significant decrease to 8 × 9 × 13 mm was recorded. The treatment continued for 31 months, and the MRI demonstrated a stable unchanged size including scar tissue, with a volume reduction from 633 to 483 mm3. During treatment, her visual acuity improved in her left eye from 0.05 to 0.3. After stopping the drugs, ‘watchful waiting’ with repeated MRI was decided. She is now off treatment for 25 months, without any recurrence on MRI. |
| format | Article |
| id | doaj-art-2ba4e688680142aeb0b8dbf32cca82df |
| institution | Kabale University |
| issn | 2634-4793 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Bioscientifica |
| record_format | Article |
| series | Endocrine Oncology |
| spelling | doaj-art-2ba4e688680142aeb0b8dbf32cca82df2024-12-26T09:23:49ZengBioscientificaEndocrine Oncology2634-47932024-12-014110.1530/EO-24-00241Treatment with BRAF/MEK: inhibitors in mutant BRAF V600E papillary craniopharyngiomaEva Marie Erfurth0Peter Siesjö1Pia C Sundgren2Björn Hammar3Sara Kinhult4Department of Endocrinology, Skåne University Hospital, Lund, SwedenDepartment of Neurosurgery, Skane University Hospital, Lund, SwedenDepartment of Clinical Sciences/Diagnostic Radiology, Lund University, Lund University Bioimaging Centre, Lund, SwedenDepartment of Ophtalmology, Clinical Sciences Lund, Lund University, Skåne University Hospital, Lund, SwedenDepartment of Oncology, Department of Clinical Sciences, Lund University, Skåne University Hospital, Lund, SwedenCraniopharyngiomas (CPs) are rare brain epithelial tumours arising in the suprasellar region, infiltrating adjacent areas causing visual loss, panhypopituitarism, cognitive deficits and morbid obesity. Papillary CPs (PCPs) harbour in 94% BRAF mutation cases. Two patients with PCP and BRAF V600E mutations but with different tumour status were treated with BRAF and MEK inhibitors. Case I was diagnosed with biopsy and treated for 16 months with BRAF and MEK inhibitors. After 3.5 months, there was a 50% reduction of the tumour volume, and after 13 months, the tumour volume decreased from 2220 to 90 mm3 (96%). Two months after stopping the drugs, he was treated with fractionated cranial irradiation (54 Gy). No recurrence of the PCP was recorded. Eight months after stopping the drugs, he was diagnosed with an adenocarcinoma of the oesophagus, which led to his death 12 months later. In case II, a woman had had four surgeries due to recurrences of a PCP, and a BRAF V600E mutation was confirmed. After a new recurrence measuring 14 × 12 × 18 mm, she was started on BRAF and MEK inhibitors. After 4 months of treatment, a significant decrease to 8 × 9 × 13 mm was recorded. The treatment continued for 31 months, and the MRI demonstrated a stable unchanged size including scar tissue, with a volume reduction from 633 to 483 mm3. During treatment, her visual acuity improved in her left eye from 0.05 to 0.3. After stopping the drugs, ‘watchful waiting’ with repeated MRI was decided. She is now off treatment for 25 months, without any recurrence on MRI.https://eo.bioscientifica.com/view/journals/eo/4/1/EO-24-0024.xmlcraniopharyngiomapapillary craniopharyngiomabraf mutationbraf and mek inhibitors |
| spellingShingle | Eva Marie Erfurth Peter Siesjö Pia C Sundgren Björn Hammar Sara Kinhult Treatment with BRAF/MEK: inhibitors in mutant BRAF V600E papillary craniopharyngioma Endocrine Oncology craniopharyngioma papillary craniopharyngioma braf mutation braf and mek inhibitors |
| title | Treatment with BRAF/MEK: inhibitors in mutant BRAF V600E papillary craniopharyngioma |
| title_full | Treatment with BRAF/MEK: inhibitors in mutant BRAF V600E papillary craniopharyngioma |
| title_fullStr | Treatment with BRAF/MEK: inhibitors in mutant BRAF V600E papillary craniopharyngioma |
| title_full_unstemmed | Treatment with BRAF/MEK: inhibitors in mutant BRAF V600E papillary craniopharyngioma |
| title_short | Treatment with BRAF/MEK: inhibitors in mutant BRAF V600E papillary craniopharyngioma |
| title_sort | treatment with braf mek inhibitors in mutant braf v600e papillary craniopharyngioma |
| topic | craniopharyngioma papillary craniopharyngioma braf mutation braf and mek inhibitors |
| url | https://eo.bioscientifica.com/view/journals/eo/4/1/EO-24-0024.xml |
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