Global Retinoblastoma Presentation and Analysis by National Income Level



Global Retinoblastoma Study Group, Fabian ID, Abdallah E, Abdullahi SU, Abdulqader RA, Adamou Boubacar S, Ademola-Popoola DS, Adio A, Afshar AR, Aggarwal P, Aghaji AE, Ahmad A, Akib MNR, Al Harby L, Al Ani MH, Alakbarova A, Portabella SA, Al-Badri SAF, Alcasabas APA, Al-Dahmash SA, Alejos A, Alemany-Rubio E, Alfa Bio AI, Alfonso Carreras Y, Al-Haddad C, Al-Hussaini HHY, Ali AM, Alia DB, Al-Jadiry MF, Al-Jumaily U, Alkatan HM, All-Eriksson C, Al-Mafrachi AARM, Almeida AA, Alsawidi KM, Al-Shaheen AASM, Al-Shammary EH, Amiruddin PO, Antonino R, Astbury NJ, Atalay HT, Atchaneeyasakul LO, Atsiaya R, Attaseth T, Aung TH, Ayala S, Baizakova B, Balaguer J, Balayeva R, Balwierz W, Barranco H, Bascaran C, Beck Popovic M, Benavides R, Benmiloud S, Bennani Guebessi N, Berete RC, Berry JL, Bhaduri A, Bhat S, Biddulph SJ, Biewald EM, Bobrova N, Boehme M, Boldt HC, Bonanomi MTBC, Bornfeld N, Bouda GC, Bouguila H, Boumedane A, Brennan RC, Brichard BG, Buaboonnam J, Calderón-Sotelo P, Calle Jara DA, Camuglia JE, Cano MR, Capra M, Cassoux N, Castela G, Castillo L, Català-Mora J, Chantada GL, Chaudhry S, Chaugule SS, Chauhan A, Chawla B, Chernodrinska VS, Chiwanga FS, Chuluunbat T, Cieslik K, Cockcroft RL, Comsa C, Correa ZM, Correa Llano MG, Corson TW, Cowan-Lyn KE, Csóka M, Cui X, Da Gama IV, et al.


JAMA Oncol. 2020 May 1;6(5):685-695. doi: 10.1001/jamaoncol.2019.6716.


IMPORTANCE: Early diagnosis of retinoblastoma, the most common intraocular cancer,
can save both a child’s life and vision. However, anecdotal evidence suggests that
many children across the world are diagnosed late. To our knowledge, the clinical
presentation of retinoblastoma has never been assessed on a global scale.
OBJECTIVES: To report the retinoblastoma stage at diagnosis in patients across the
world during a single year, to investigate associations between clinical variables
and national income level, and to investigate risk factors for advanced disease at
diagnosis. DESIGN, SETTING, AND PARTICIPANTS: A total of 278 retinoblastoma
treatment centers were recruited from June 2017 through December 2018 to participate
in a cross-sectional analysis of treatment-naive patients with retinoblastoma who
were diagnosed in 2017. MAIN OUTCOMES AND MEASURES: Age at presentation, proportion
of familial history of retinoblastoma, and tumor stage and metastasis. RESULTS: The
cohort included 4351 new patients from 153 countries; the median age at diagnosis
was 30.5 (interquartile range, 18.3-45.9) months, and 1976 patients (45.4%) were
female. Most patients (n = 3685 [84.7%]) were from low- and middle-income countries
(LMICs). Globally, the most common indication for referral was leukocoria (n = 2638
[62.8%]), followed by strabismus (n = 429 [10.2%]) and proptosis (n = 309 [7.4%]).
Patients from high-income countries (HICs) were diagnosed at a median age of 14.1
months, with 656 of 666 (98.5%) patients having intraocular retinoblastoma and 2
(0.3%) having metastasis. Patients from low-income countries were diagnosed at a
median age of 30.5 months, with 256 of 521 (49.1%) having extraocular retinoblastoma
and 94 of 498 (18.9%) having metastasis. Lower national income level was associated
with older presentation age, higher proportion of locally advanced disease and
distant metastasis, and smaller proportion of familial history of retinoblastoma.
Advanced disease at diagnosis was more common in LMICs even after adjusting for age
(odds ratio for low-income countries vs upper-middle-income countries and HICs,
17.92 [95% CI, 12.94-24.80], and for lower-middle-income countries vs
upper-middle-income countries and HICs, 5.74 [95% CI, 4.30-7.68]). CONCLUSIONS AND
RELEVANCE: This study is estimated to have included more than half of all new
retinoblastoma cases worldwide in 2017. Children from LMICs, where the main global
retinoblastoma burden lies, presented at an older age with more advanced disease and
demonstrated a smaller proportion of familial history of retinoblastoma, likely
because many do not reach a childbearing age. Given that retinoblastoma is curable,
these data are concerning and mandate intervention at national and international
levels. Further studies are needed to investigate factors, other than age at
presentation, that may be associated with advanced disease in LMICs.

Keywords: .

Link/DOI: 10.1001/jamaoncol.2019.6716