No significant risk of hematological malignancy in patients with neurofibromatosis type 1: single center study of children and adults

Abstract

<jats:title>Abstract</jats:title><jats:sec><jats:title>Background/Aim</jats:title><jats:p>Neurofibromatosis type 1 (NF1) is characterized by the occurrence of multisystem tumors. The objective of this study was to analyze the demographic and oncological profile of 830 NF1-individuals regarding prevalence, type, and spectrum of malignancy.</jats:p></jats:sec><jats:sec><jats:title>Patients and methods</jats:title><jats:p>The medical records of patients diagnosed with NF1 with a median age of 22.1 years (range: 0.8–81.6 years) who were followed up for malignancies from 1999 to 2018 were retrospectively reviewed.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>The prevalence of malignancy occurring in patients diagnosed with NF1 was 34.8% (289/830). The most common types of neoplasia encompassed tumors strictly associated with NF1, including plexiform neurofibromas (PNF; 200/830; 24.1%) and optic pathway gliomas (91/830; 11%). The prevalence of PNFs-transforming to malignant peripheral nerve sheath tumors (MPNST) was 3.5% (7/200). The prevalence of other tumors was 4.8% (40/830). One patient was diagnosed with acute myeloid leukemia (AML), thus the risk of hematological malignancies among all patients with NF1 was 0.1% (1/830). In the population of patients with malignancies, 43/289 (14.9%) individuals were diagnosed with more than one malignancy.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>The odds ratio (OR) of malignancy in a studied cohort of patients with NF1 was 23 (<jats:italic>p</jats:italic> &lt; 0.001), while the OR of hematological malignancy was 5.1 (<jats:italic>p</jats:italic> = 0.1) in comparison with the general population.</jats:p></jats:sec>

Cancer risks related to intellectual disabilities: A systematic review

“…In six of eight papers higher risk for earlier breast cancer was diagnosed in woman with NF1, 47 , 49 , 50 , 52 , 54 , 77 the other two papers report the higher risk of developing any type of cancer. 48 , 53 …”

“…In six of eight papers higher risk for earlier breast cancer was diagnosed in woman with NF1, 47,49,50,52,54,77 the other two papers report the higher risk of developing any type of cancer. 48,53 The three included studies on FA show that people with this syndrome are susceptible to the early onset of acute myeloid leukemia. 55,57,58 In addition, two of these studies described an extraordinary risk for the development of solid tumors as well.…”