Table 2.
Study characteristics
| Author, year | Study design | Data source | Country | Year(s) of study | Brief description of the study population | Sample size | Length of follow-up |
|---|---|---|---|---|---|---|---|
| Epidemiology studies | |||||||
| Kallionpää R, 2018 [14] | Retrospective, nationwide, population-based prevalence study | Review of medical records from secondary and tertiary referral centers | Finland | Data collection: 1987–2011 | All patients who fulfilled the NIH diagnostic criteria for NF-1 |
Finnish NF-1 cohort: 1476 patients Total surveillance population: NR |
21,742 person-years (median: 15.0 years per person; range: 0.01–28.0 years per person) |
| Duong TA, 2011 [11] | Retrospective cohort study | NF-1 Network Database maintained by the National French Hospital Database (PMSI) | France | January 1980–December 2006 | Cohort of consecutive NF-1 patients in France referred to hospital departments of the Paris conurbation that constitutes the National French Referral Centre for Neurofibromatosis | 1895 | Median: 6.8 years (range 0.4–20.6 years) |
| Evans DG, 2010 [12] | Retrospective analysis of cancer surveillance registry and genetic register | The North West Regional Cancer Intelligence Service and the North West Regional family GR | UK | 1953–2003 | NF-1 patients residing in the North West England, Greater Manchester area | Total population studied: 3,050,409 | NA |
| McKeever K, 2008 [18] | Retrospective review of an NF-1 case registry | Department of Medical Genetics in Belfast City Hospital | UK (Northern Ireland) | 1990–2002 | All cases of NF-1 in children less than 16 years of age in Northern Ireland | The total population size in Northern Ireland at the time of the study was reported to be 1.68 million, of which 425,250 were under 16 years of age. Most children with NF-1 are referred to the Department of Medical Genetics in Belfast. 75 children with NF-1 were identified | NR |
| Pociello R, 2005 [22] | Prospective cohort study | Scholastic institutes of the XVII, XVIII, XX districts of Rome: Leopardi, Pistelli, Umberto I, Convitto Nazionale, Cairoli, Pianciani, Peroni, Woytila, XXI Aprile, Alfieri | Italy | Dates NR Recruitment: three years duration | Cohort of two groups of children (6 and 10 years) recruited through scholastic institutes of the XVII, XVIII, XX districts of Rome and evaluated for early detection of NF-1 | Total population observed: 2513 Cases of NF-1: 6 Suspected cases: 201 | 16 years |
| Khosrotehrani K, 2005 [16] | Prospective cohort study | NFID | North America | 1977–1996 | Patients who fulfilled the NIH diagnostic criteria for NF-1 | 405 | Mean, 2.4 years (range: 0–15.3 years) |
| Lammert M, 2005 [17] | Cross-sectional survey | Routine medical examinations at elementary school enrollment | Germany | 2000 and 2001 | Children aged 6 years old in six German states | Total surveillance population: 152,819 | NA, cross-sectional survey |
| Neville H, 2001 [19] | Retrospective review of medical charts | Neurofibromatosis database established through the Neurofibromatosis Clinic at The University of Texas M.D. Anderson Cancer Center | US (Texas) | 1979–1999 | All children (< 21) with neurofibromatosis who underwent an operative procedure at the University of Texas-Houston Medical School, the Memorial-Hermann Children’s Hospital, and the University of Texas M.D. Anderson Cancer Center | 249 | NR |
| Garty BZ, 1994 [13] | Cross-sectional survey | Jewish recruits for military service | Israel | NR | 17-year-old Jewish recruits for military service | Total surveillance population: 374,440 | NA, cross-sectional survey |
| Cnossen MH, 1998 [10] | Prospective cohort study | Sophia Children’s University Hospital | Netherlands (Rotterdam) | 1985–1995 | Children (younger than 18 years of age) with a suspected diagnosis of NF-1 | 150 |
• Group A: mean ± SD duration of follow-up was 4.9 ± 3.8 years • Group B: total number of person-years in children presenting without complications: 340.8 •Group C: total number of person-years in children with one or two complications at presentation: 322.6 |
| Khong PG, 2003 [15] | Prospective surveillance study | Tertiary referral center | Hong Kong | 1995–2001 | Consecutive children seen in an NF-1 clinic in a tertiary referral center | 53 | Follow-up imaging was performed in 10 children over a mean period of 29 months |
| Noble F, 2007 [20] | Retrospective review of genetic and hospital files | NF-1 clinic at the Royal Children’s Hospital in Melbourne | Australia (Melbourne) | 2001–2004 | Patients with confirmed or presumed diagnoses of NF-1 who attended NF-1 clinic at a tertiary hospital | 121 | NR |
| Orraca M, 2014 [21] | Cross-sectional survey | Children aged 9–11 years (i.e., born between January 1, 1993, and December 31, 1994) living in the province at the time | Cuba (14 municipalities in the province of Pinar del Río) | 2004 | Children aged 9–11 years (i.e., born between January 1, 1993, and December 31, 1994) living in 14 municipalities in the province of Pinar del Río, Cuba | Total population size: 19,404 Total population assessed for NF-1 in the survey: 19,392 | NA, cross-sectional survey |
| Epidemiology, burden of pain and surgery | |||||||
| Prada CE, 2012 [23] | Retrospective review of medical records | Cincinnati Children’s Hospital Medical center | US (Ohio, Indiana, and Kentucky) | 1997–2007 | Pediatric cohort of patients with NF-1 (with and without symptomatic PNs) |
520 NF-1 with PNs: 154 NF-1 without PNs: 366 |
Average follow-up for NF-1 with PNs: 6.4 years (range, 4–10 years) |
| Burden of pain and surgery | |||||||
| Canavese F, 2011 [26] | Retrospective review of medical charts and radiographs of consecutive cases of NF-1 among children and adolescents | Shriners Hospital Portland | US (Portland, Oregon) | 1994–2006 | Consecutive pediatric NF-1 patients with PN of the trunk or the extremities who underwent surgical resection of the tumor | 100 consecutive NF-1 patients were assessed, 14 met inclusion criteria, 10 of whom were < 18 years old | Average: 65.5 months (range: 24–145 months) |
| Needle MN, 1997 [25] | Retrospective review of the inpatient and outpatient records | Department of Surgical Pathology reports (The Children’s Hospital of Philadelphia) | US (Philadelphia) | 1974–1994 | Children with NF-1 and PN who had undergone a surgical procedure | 121 | Median follow-up: 6.8 years (range 2 months to 24.5 years) |
| Burden of pain | |||||||
| Lai J, 2019 [28] | Cross-sectional, non-interventional, patient-reported outcomes study | The Children’s Tumor Foundation NF Registry, Regional NF-1 organizations and The Ann & Robert H. Lurie Children’s Hospital of Chicago | US (Chicago) | NR | Children aged 8–17 years old with a confirmed diagnosis of NF-1 and who had at least one PN in any location (symptomatic or asymptomatic) | 140 | NA |
| Wolters PL, 2015 [31] | Cross-sectional analysis of a longitudinal study | NCI Natural History Study of Patients with NF-1 | US | NR | Children and adolescents with NF-1 and PNs aged 6–18 years, enrolled in the NCI natural history study | 60 | NA |
| Wolters P, 2018 [30] Wolters P, 2017 [29] Gross AM, 2018 [27] | Single-arm trial | Phase II selumetinib trial (NCT 0136 2803) | US | Trial ongoing (2011–NA) | Children aged 2–18 years with NF-1, inoperable PNs, and PN-related morbidity | 50 | 1 year |
| Burden of surgery | |||||||
| Hemenway M, 2017 [24] | Retrospective cohort study | Children’s Hospital Colorado | US | NR | Patients with PN who met the criteria for surgical resection and were treated according to the Colorado Children’s Hospital treatment pathway | 11 | 6 months |
Abbreviations: GR, genetic register; NA, not applicable; NCI, National Cancer Institute; NF-1, neurofibromatosis type 1; NFID, Neurofibromatosis Institute Database; NIH, National Institutes of Health; NR, not reported; PMSI, Programme National de Médicalisation des Systèmes d’Information; PN, plexiform neurofibroma; SD, standard deviation; UK, United Kingdom; US, United States