JACC. Case reports · 2025
Unmasking Cancer Risk in Heritable PAH: The Hidden Role of BMPR2 in Epithelial Tumorigenesis.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Biscotti Rodil Belén, Cruz-Utrilla Alejandro, Martín de Miguel Irene, Barriuso Jorge, Arribas Ynsaurriaga Fernando, Escribano Subías Pilar
Аннотация
BACKGROUND: BMPR2 mutations cause heritable pulmonary arterial hypertension (PAH) and may also influence epithelial carcinogenesis.
CASE SUMMARY: We report 3 women with BMPR2-related PAH who developed early onset epithelial cancers: 2 breast cancers (34 and 54 years of age) and 1 colorectal cancer (47 years of age). All were on advanced PAH therapy at diagnosis. Genetic screening of relatives was negative, and additional oncogenetic testing excluded BRCA and Lynch syndrome. Management included chemotherapy, surgery in 2 cases, and palliative care in 1 case.
DISCUSSION: BMPR2, essential for vascular homeostasis, is also implicated in tumor suppression and modulation of the tumor microenvironment. In our cohort of 32 patients, epithelial cancer prevalence was 9.4%, with diagnosis at significantly younger ages than the general population. These findings suggest a potential oncogenic role for BMPR2 mutations and the need for further research.
TAKE-HOME MESSAGE: BMPR2 mutations may predispose to early onset epithelial cancers, warranting investigation into cancer risk and screening strategies in this population.
CASE SUMMARY: We report 3 women with BMPR2-related PAH who developed early onset epithelial cancers: 2 breast cancers (34 and 54 years of age) and 1 colorectal cancer (47 years of age). All were on advanced PAH therapy at diagnosis. Genetic screening of relatives was negative, and additional oncogenetic testing excluded BRCA and Lynch syndrome. Management included chemotherapy, surgery in 2 cases, and palliative care in 1 case.
DISCUSSION: BMPR2, essential for vascular homeostasis, is also implicated in tumor suppression and modulation of the tumor microenvironment. In our cohort of 32 patients, epithelial cancer prevalence was 9.4%, with diagnosis at significantly younger ages than the general population. These findings suggest a potential oncogenic role for BMPR2 mutations and the need for further research.
TAKE-HOME MESSAGE: BMPR2 mutations may predispose to early onset epithelial cancers, warranting investigation into cancer risk and screening strategies in this population.