RARE DISEASE
Hemangioblastoma
Hemangioblastoma
Hemangioblastoma
Drug discovery
0
drugs
With orphan designations
Overview
Hemangioblastomas are benign (WHO grade 1) vascular CNS tumors arising in the cerebellum (62%), spinal cord (14%), or brainstem [2][6][12]. They occur sporadically (70-80%) or as part of von Hippel-Lindau disease (VHL) [7][11]. Symptoms include headaches, ataxia, and focal neurological deficits due to mass effect or cystic components [5][16]. Diagnosis relies on MRI demonstrating enhancing nodules with flow voids [11]. Complete surgical resection remains curative for accessible tumors, while stereotactic radiosurgery and HIF-2α inhibitors (belzutifan) are used for recurrent/multiple lesions [5][13][17]. Genetic testing for VHL is recommended [10].
Categories: rare neoplastic diseases, rare neurological diseases
Research Papers
719 drug discovery papers about Hemangioblastoma, with 2 first-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
719 drug discovery papers about Hemangioblastoma, with 2 first-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
2026-07-09 | Regression of retinal capillary hemangioblastoma with systemic belzutifan in von Hippel–Lindau disease: a case report
Purpose To report a case of retinal capillary hemangioblastoma (RCH) regression in a patient with von Hippel–Lindau (VHL) disease following treatment with systemic belzutifan. Case presentation A 49-year-old female with VHL disease presented with a retinal capillary hemangioblastoma in the left eye that had been previously treated with laser therapy. She subsequently developed a new retinal lesion and interval growth of a renal intraparenchymal mass, for which systemic belzutifan was initiated. Four months after treatment initiation, a reduction in the size of the retinal lesions was observed, along with decreased perfusion and vascularity. Conclusion Systemic belzutifan therapy for VHL disease may induce regression of retinal capillary hemangioblastomas and can be effective as either a primary or an adjunctive treatment modality.
2026-06-29 | Sandwich therapy combining photodynamic therapy and adjunctive anti-VEGF for juxtapapillary retinal capillary hemangioblastoma.
To report the outcomes of verteporfin photodynamic therapy (PDT) with adjuntive pre- and post-PDT intravitreal anti-vascular endothelial growth factor (anti-VEGF) injections ("Sandwich PDT") for juxtapapillary retinal capillary hemangioblastoma (RCH). A retrospective case review of eyes with juxtapapillary RCH that underwent "Sandwich PDT" in a national referral center. The clinical features were evaluated with fundus photography, optical coherence tomography, and ultrasonography. Five eyes were analyzed. The median follow-up time was 42 (range, 12-77) months. Adjunctive anti-VEGFs were given 4.0 weeks (range, 1 day-12 weeks) before PDT and 6.0 weeks (3 days to 8 weeks) after PDT. One of the five eyes (20%) that had anti-VEGF injection 8 weeks before PDT developed macular exudation after PDT but resolved within 1 month. Following Sandwich PDT, tumor size regressed in 3/5 eyes (60%) and stabilized in 2/5 eyes (40%). Subretinal fluid and exudates completely resolved in the three eyes that had these features before PDT, whereas intraretinal fluid stabilized or partially responded in 4/5 (80%). Reactivation of disease activity was noted in two eyes (40%), one resolved after a second Sandwich PDT. At the last follow-up, visual acuity improved 10 ETDRS letters or more in one eye (20%), stabilized in two (40%), and worsened 10 ETDRS letters or more in two (40%). The treatment of juxtapapillary RCH remains challenging. PDT with adjunctive anti-VEGF injections achieved anatomical control, but the functional outcomes were guarded. Based on the pharmacokinetics, we propose that anti-VEGF be given 1 week before PDT for maximal coverage.
2026-06-19 | FLOW800-guided microsurgical resection of a brainstem hemangioblastoma with AVM-like features: a case report and technical note.
Brainstem hemangioblastomas (HBs) are rare, highly vascularized benign tumors that pose significant surgical challenges due to their deep location, proximity to critical neural structures, and arteriovenous malformation (AVM)-like angioarchitecture. Preoperative embolization carries a high risk of edema or hemorrhage, and piecemeal resection is often impossible. The intraoperative use of FLOW800 color-coded fluorescence angiography may improve real-time hemodynamic assessment, but its application in brainstem HB surgery is rarely reported. A 39-year-old female presented with headache, dizziness, and ataxia. Imaging revealed a brainstem HB involving the fourth ventricle and cerebellar vermis, with obstructive hydrocephalus and syringomyelia. The patient underwent a suboccipital median approach. Intraoperatively, FLOW800 under a Zeiss microscope was used to differentiate feeding arteries from draining veins. Following FLOW800 guidance, the tumor was dissected circumferentially with en bloc resection, paying extreme gentleness to the brainstem interface, especially at the lower pole adherent to the medulla oblongata. Gross-total resection (2.3 cm × 3.0 cm × 2.4 cm) was achieved with minimal blood loss. The patient recovered well, was extubated 4 hours postoperatively, and had no new cranial nerve or respiratory deficits. Histopathology and immunohistochemistry (inhibin-α+/CD10-/GFAP-/EMA-) confirmed HB and excluded mimics. For brainstem HBs with AVM-like hypervascularity, FLOW800-guided en bloc peripheral dissection combined with ultra-gentle manipulation of the tumor-brainstem interface allows safe gross-total resection without preoperative embolization. This case supports the routine intraoperative use of FLOW800 in selected brainstem HBs.
2026-07-09 | Regression of retinal capillary hemangioblastoma with systemic belzutifan in von Hippel–Lindau disease: a case report
Purpose To report a case of retinal capillary hemangioblastoma (RCH) regression in a patient with von Hippel–Lindau (VHL) disease following treatment with systemic belzutifan. Case presentation A 49-year-old female with VHL disease presented with a retinal capillary hemangioblastoma in the left eye that had been previously treated with laser therapy. She subsequently developed a new retinal lesion and interval growth of a renal intraparenchymal mass, for which systemic belzutifan was initiated. Four months after treatment initiation, a reduction in the size of the retinal lesions was observed, along with decreased perfusion and vascularity. Conclusion Systemic belzutifan therapy for VHL disease may induce regression of retinal capillary hemangioblastomas and can be effective as either a primary or an adjunctive treatment modality.
2026-06-29 | Sandwich therapy combining photodynamic therapy and adjunctive anti-VEGF for juxtapapillary retinal capillary hemangioblastoma.
To report the outcomes of verteporfin photodynamic therapy (PDT) with adjuntive pre- and post-PDT intravitreal anti-vascular endothelial growth factor (anti-VEGF) injections ("Sandwich PDT") for juxtapapillary retinal capillary hemangioblastoma (RCH). A retrospective case review of eyes with juxtapapillary RCH that underwent "Sandwich PDT" in a national referral center. The clinical features were evaluated with fundus photography, optical coherence tomography, and ultrasonography. Five eyes were analyzed. The median follow-up time was 42 (range, 12-77) months. Adjunctive anti-VEGFs were given 4.0 weeks (range, 1 day-12 weeks) before PDT and 6.0 weeks (3 days to 8 weeks) after PDT. One of the five eyes (20%) that had anti-VEGF injection 8 weeks before PDT developed macular exudation after PDT but resolved within 1 month. Following Sandwich PDT, tumor size regressed in 3/5 eyes (60%) and stabilized in 2/5 eyes (40%). Subretinal fluid and exudates completely resolved in the three eyes that had these features before PDT, whereas intraretinal fluid stabilized or partially responded in 4/5 (80%). Reactivation of disease activity was noted in two eyes (40%), one resolved after a second Sandwich PDT. At the last follow-up, visual acuity improved 10 ETDRS letters or more in one eye (20%), stabilized in two (40%), and worsened 10 ETDRS letters or more in two (40%). The treatment of juxtapapillary RCH remains challenging. PDT with adjunctive anti-VEGF injections achieved anatomical control, but the functional outcomes were guarded. Based on the pharmacokinetics, we propose that anti-VEGF be given 1 week before PDT for maximal coverage.
2026-06-19 | FLOW800-guided microsurgical resection of a brainstem hemangioblastoma with AVM-like features: a case report and technical note.
Brainstem hemangioblastomas (HBs) are rare, highly vascularized benign tumors that pose significant surgical challenges due to their deep location, proximity to critical neural structures, and arteriovenous malformation (AVM)-like angioarchitecture. Preoperative embolization carries a high risk of edema or hemorrhage, and piecemeal resection is often impossible. The intraoperative use of FLOW800 color-coded fluorescence angiography may improve real-time hemodynamic assessment, but its application in brainstem HB surgery is rarely reported. A 39-year-old female presented with headache, dizziness, and ataxia. Imaging revealed a brainstem HB involving the fourth ventricle and cerebellar vermis, with obstructive hydrocephalus and syringomyelia. The patient underwent a suboccipital median approach. Intraoperatively, FLOW800 under a Zeiss microscope was used to differentiate feeding arteries from draining veins. Following FLOW800 guidance, the tumor was dissected circumferentially with en bloc resection, paying extreme gentleness to the brainstem interface, especially at the lower pole adherent to the medulla oblongata. Gross-total resection (2.3 cm × 3.0 cm × 2.4 cm) was achieved with minimal blood loss. The patient recovered well, was extubated 4 hours postoperatively, and had no new cranial nerve or respiratory deficits. Histopathology and immunohistochemistry (inhibin-α+/CD10-/GFAP-/EMA-) confirmed HB and excluded mimics. For brainstem HBs with AVM-like hypervascularity, FLOW800-guided en bloc peripheral dissection combined with ultra-gentle manipulation of the tumor-brainstem interface allows safe gross-total resection without preoperative embolization. This case supports the routine intraoperative use of FLOW800 in selected brainstem HBs.
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