Factors that predict progression of von Hippel-Lindau disease-related malignancy: a longitudinal cohort study
Abstract Background Von Hippel-Lindau (vHL) disease encompasses various genetic subtypes with poorly defined progression patterns. This retrospective study of a longitudinal cohort aimed to characterize follow-up duration, treatment rates, and progression patterns according to genomic subtype, and t...
Saved in:
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-03-01
|
| Series: | BMC Cancer |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12885-025-13985-5 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850208457899114496 |
|---|---|
| author | Jae Ho Lee Hyun Young Lee Ji Eun Park Min-Ju Kim Dae Wook Hwang Sangjoon Chong Moinay Kim Joo Yong Lee Cheryn Song Beom Hee Lee |
| author_facet | Jae Ho Lee Hyun Young Lee Ji Eun Park Min-Ju Kim Dae Wook Hwang Sangjoon Chong Moinay Kim Joo Yong Lee Cheryn Song Beom Hee Lee |
| author_sort | Jae Ho Lee |
| collection | DOAJ |
| description | Abstract Background Von Hippel-Lindau (vHL) disease encompasses various genetic subtypes with poorly defined progression patterns. This retrospective study of a longitudinal cohort aimed to characterize follow-up duration, treatment rates, and progression patterns according to genomic subtype, and to identify risk factors for progression. Methods Between June 2003 and June 2020, the study enrolled 94 patients (mean age, 37.1 years; 49 females; 84 with missense mutations and 10 with truncating (i.e., insertion/deletion) mutations in the VHL tumor suppressor gene). MRI and CT imaging data were analyzed to compare tumor incidence between the two mutation groups. Cox regression analysis was used to assess predictors of hemangioblastoma (Hb) and renal cell carcinoma (RCC) progression based on genetic subtype, tumor volume, and clinical characteristics. Results Patients with missense mutations were more often treated for RCC (p = 0.013) and adrenal pheochromocytoma (p < 0.001) than those with truncating mutations; however, genetic subtype was not a significant predictor of time-to-progression of Hb or RCC. Larger tumor volume at baseline was an independent predictor of Hb progression (HR, 1.029; 95% CI, 1.013–1.046; p < 0.001) and RCC (HR, 1.011; 95% CI, 1.005–1.017; p < 0.001). Male sex was also an independent predictor of RCC progression (HR, 3.368; 95% CI, 1.351–8.396; p = 0.009). Conclusions Genetic subtype was not associated with progression of vHL disease, but missense mutations were associated with higher treatment rates for RCC and adrenal pheochromocytoma. The finding that progression of Hb and RCC is linked to larger baseline tumor volume and male sex may facilitate clinical management. |
| format | Article |
| id | doaj-art-558fca6b8deb4a5d8fc126c24f624717 |
| institution | OA Journals |
| issn | 1471-2407 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Cancer |
| spelling | doaj-art-558fca6b8deb4a5d8fc126c24f6247172025-08-20T02:10:14ZengBMCBMC Cancer1471-24072025-03-0125111110.1186/s12885-025-13985-5Factors that predict progression of von Hippel-Lindau disease-related malignancy: a longitudinal cohort studyJae Ho Lee0Hyun Young Lee1Ji Eun Park2Min-Ju Kim3Dae Wook Hwang4Sangjoon Chong5Moinay Kim6Joo Yong Lee7Cheryn Song8Beom Hee Lee9Department of Radiology and Center for Imaging Science, Thyroid Center, Samsung Medical Center, Sungkyunkwan University School of MedicineDepartment of Urology, Soonchunhyang University Seoul Hospital, Soonchunhyang University College of MedicineDepartment of Radiology and Research Institute of Radiology, University of Ulsan College of Medicine, Asan Medical CenterDepartment of Clinical Epidemiology and Biostatistics, Asan Medical CenterDivision of Hepatobiliary and Pancreatic Surgery, Department of Surgery, University of Ulsan College of Medicine, Asan Medical CenterDepartment of Neurosurgery, University of Ulsan College of Medicine, Asan Medical CenterDepartment of Neurosurgery, University of Ulsan College of Medicine, Asan Medical CenterDepartment of Ophthalmology, University of Ulsan College of Medicine, Asan Medical CenterDepartment of Urology, University of Ulsan College of Medicine, Asan Medical CenterDepartment of Pediatrics, University of Ulsan College of Medicine, Asan Medical CenterAbstract Background Von Hippel-Lindau (vHL) disease encompasses various genetic subtypes with poorly defined progression patterns. This retrospective study of a longitudinal cohort aimed to characterize follow-up duration, treatment rates, and progression patterns according to genomic subtype, and to identify risk factors for progression. Methods Between June 2003 and June 2020, the study enrolled 94 patients (mean age, 37.1 years; 49 females; 84 with missense mutations and 10 with truncating (i.e., insertion/deletion) mutations in the VHL tumor suppressor gene). MRI and CT imaging data were analyzed to compare tumor incidence between the two mutation groups. Cox regression analysis was used to assess predictors of hemangioblastoma (Hb) and renal cell carcinoma (RCC) progression based on genetic subtype, tumor volume, and clinical characteristics. Results Patients with missense mutations were more often treated for RCC (p = 0.013) and adrenal pheochromocytoma (p < 0.001) than those with truncating mutations; however, genetic subtype was not a significant predictor of time-to-progression of Hb or RCC. Larger tumor volume at baseline was an independent predictor of Hb progression (HR, 1.029; 95% CI, 1.013–1.046; p < 0.001) and RCC (HR, 1.011; 95% CI, 1.005–1.017; p < 0.001). Male sex was also an independent predictor of RCC progression (HR, 3.368; 95% CI, 1.351–8.396; p = 0.009). Conclusions Genetic subtype was not associated with progression of vHL disease, but missense mutations were associated with higher treatment rates for RCC and adrenal pheochromocytoma. The finding that progression of Hb and RCC is linked to larger baseline tumor volume and male sex may facilitate clinical management.https://doi.org/10.1186/s12885-025-13985-5Von Hippel-Lindau (vHL) diseaseGenetic subtypesTumor progressionInitial tumor volumeMale sex |
| spellingShingle | Jae Ho Lee Hyun Young Lee Ji Eun Park Min-Ju Kim Dae Wook Hwang Sangjoon Chong Moinay Kim Joo Yong Lee Cheryn Song Beom Hee Lee Factors that predict progression of von Hippel-Lindau disease-related malignancy: a longitudinal cohort study BMC Cancer Von Hippel-Lindau (vHL) disease Genetic subtypes Tumor progression Initial tumor volume Male sex |
| title | Factors that predict progression of von Hippel-Lindau disease-related malignancy: a longitudinal cohort study |
| title_full | Factors that predict progression of von Hippel-Lindau disease-related malignancy: a longitudinal cohort study |
| title_fullStr | Factors that predict progression of von Hippel-Lindau disease-related malignancy: a longitudinal cohort study |
| title_full_unstemmed | Factors that predict progression of von Hippel-Lindau disease-related malignancy: a longitudinal cohort study |
| title_short | Factors that predict progression of von Hippel-Lindau disease-related malignancy: a longitudinal cohort study |
| title_sort | factors that predict progression of von hippel lindau disease related malignancy a longitudinal cohort study |
| topic | Von Hippel-Lindau (vHL) disease Genetic subtypes Tumor progression Initial tumor volume Male sex |
| url | https://doi.org/10.1186/s12885-025-13985-5 |
| work_keys_str_mv | AT jaeholee factorsthatpredictprogressionofvonhippellindaudiseaserelatedmalignancyalongitudinalcohortstudy AT hyunyounglee factorsthatpredictprogressionofvonhippellindaudiseaserelatedmalignancyalongitudinalcohortstudy AT jieunpark factorsthatpredictprogressionofvonhippellindaudiseaserelatedmalignancyalongitudinalcohortstudy AT minjukim factorsthatpredictprogressionofvonhippellindaudiseaserelatedmalignancyalongitudinalcohortstudy AT daewookhwang factorsthatpredictprogressionofvonhippellindaudiseaserelatedmalignancyalongitudinalcohortstudy AT sangjoonchong factorsthatpredictprogressionofvonhippellindaudiseaserelatedmalignancyalongitudinalcohortstudy AT moinaykim factorsthatpredictprogressionofvonhippellindaudiseaserelatedmalignancyalongitudinalcohortstudy AT jooyonglee factorsthatpredictprogressionofvonhippellindaudiseaserelatedmalignancyalongitudinalcohortstudy AT cherynsong factorsthatpredictprogressionofvonhippellindaudiseaserelatedmalignancyalongitudinalcohortstudy AT beomheelee factorsthatpredictprogressionofvonhippellindaudiseaserelatedmalignancyalongitudinalcohortstudy |