Cancer and Neurofibromatosis Type 1—Confirming What We Knew and Telling Us Something New
Menée à l'aide de données 1985-2020 portant sur 1 607 personnes atteintes d'une neurofibromatose de type 1 (durée médiane de suivi : 2,9 ans) et de données 1975-2015 des registres américains des cancers, cette étude analyse la prévalence des cancers et la survie spécifique associée (666 cas)
It has been known for decades that patients with neurofibromatosis type 1 (NF1) are at an increased risk of tumors, both benign and malignant. Tumorigenesis is caused by activation of the RAS pathway by an aberrant neurofibromin, itself encoded by an altered NF1 gene. Patients with NF1 also have a life expectancy 10 to 15 years shorter than the general population. Many articles have documented the effects of NF1 on cancer in terms of epidemiological and clinical features, resulting in recommendations for screening and treatment of affected patients. However, the association of these measures with outcomes is unclear because the baseline risk of cancer in patients with NF1 is not well known, given the relatively small population size in many of these reports. Another area of uncertainty is the types of tumors that can be seen in patients with NF1. The article by Landry et al helps to fill some of these knowledge gaps.
JAMA Network Open , éditorial en libre accès, 2020