O Mäkitie1, E Pukkala, L Teppo, I Kaitila. 1. Hospital for Children and Adolescents and the Department of Clinical Genetics, Helsinki University Hospital, Finland.
Abstract
OBJECTIVE: Previous reports have suggested an increased risk of cancer among patients with cartilage-hair hypoplasia (CHH). This study was carried out to further evaluate this risk among patients with CHH and their first-degree relatives. STUDY DESIGN: One hundred twenty-two patients with CHH were identified through 2 countrywide epidemiologic surveys in 1974 and in 1986. Their parents and nonaffected siblings were identified through the Population Register Center. This cohort underwent follow-up for cancer incidence through the Finnish Cancer Registry to the end of 1995. RESULTS: A statistically significant excess risk of cancer was seen among the patients with CHH (standardized incidence ratio 6.9, 95% confidence interval 2.3 to 16), which was mainly attributable to non-Hodgkin's lymphoma (standardized incidence ratio 90, 95% confidence interval 18 to 264). In addition, a significant excess risk of basal cell carcinoma was seen (standardized incidence ratio 35, 95% confidence interval 7.2 to 102). The cancer incidence among the siblings or the parents did not differ from the average cancer incidence in the Finnish population. CONCLUSIONS: This study confirms an increased risk of cancer, especially non-Hodgkin's lymphoma, probably attributable to defective immunity, among patients with CHH.
OBJECTIVE: Previous reports have suggested an increased risk of cancer among patients with cartilage-hair hypoplasia (CHH). This study was carried out to further evaluate this risk among patients with CHH and their first-degree relatives. STUDY DESIGN: One hundred twenty-two patients with CHH were identified through 2 countrywide epidemiologic surveys in 1974 and in 1986. Their parents and nonaffected siblings were identified through the Population Register Center. This cohort underwent follow-up for cancer incidence through the Finnish Cancer Registry to the end of 1995. RESULTS: A statistically significant excess risk of cancer was seen among the patients with CHH (standardized incidence ratio 6.9, 95% confidence interval 2.3 to 16), which was mainly attributable to non-Hodgkin's lymphoma (standardized incidence ratio 90, 95% confidence interval 18 to 264). In addition, a significant excess risk of basal cell carcinoma was seen (standardized incidence ratio 35, 95% confidence interval 7.2 to 102). The cancer incidence among the siblings or the parents did not differ from the average cancer incidence in the Finnish population. CONCLUSIONS: This study confirms an increased risk of cancer, especially non-Hodgkin's lymphoma, probably attributable to defective immunity, among patients with CHH.
Authors: Leslie E Rogler; Brian Kosmyna; David Moskowitz; Remon Bebawee; Joseph Rahimzadeh; Katrina Kutchko; Alain Laederach; Luigi D Notarangelo; Silvia Giliani; Eric Bouhassira; Paul Frenette; Jayanta Roy-Chowdhury; Charles E Rogler Journal: Hum Mol Genet Date: 2013-09-05 Impact factor: 6.150
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Authors: Winnie Ip; H Bobby Gaspar; Robert Kleta; Estelle Chanudet; Chiara Bacchelli; Alison Pitts; Zohreh Nademi; E Graham Davies; Mary A Slatter; Persis Amrolia; Kanchan Rao; Paul Veys; Andrew R Gennery; Waseem Qasim Journal: J Clin Immunol Date: 2015-02-08 Impact factor: 8.317