Neurofibromatosis type 1 screening: Difference between revisions

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{{Neurofibromatosis type 1}}
{{Neurofibromatosis type 1}}


{{CMG}}; {{AE}}  
{{CMG}}; {{AE}}[[User:MoisesRomo|Moises Romo M.D.]]
==Overview==
==Overview==


There is insufficient evidence to recommend routine screening for [disease/malignancy].  
'''[[Neurofibromatosis type 1]]''' is acquiered 50% of the time by [[Heredity|inheritance]]. [[Screening (medicine)|Screening]] is made by taking a [[family history]] and a [[physical examination]], and confirmed with [[genetic testing]]. [[Prenatal diagnosis|Prenatal screening]] is controversial.


OR
According to the [guideline name], screening for [disease name] is not recommended.
OR
According to the [guideline name], screening for [disease name] by [test 1] is recommended every [duration] among patients with [condition 1], [condition 2], and [condition 3].
==Screening==
==Screening==
There is insufficient evidence to recommend routine screening for [disease/malignancy].
OR


According to the [guideline name], screening for [disease name] is not recommended.
* Approximately 50% of individuals with [[neurofibromatosis type 1]] acquiere this condition by [[Heredity|inheritance]].<ref name="pmid20301288" /><ref name="pmid17105749" /><ref name="pmid282300613" />
* [[Screening (medicine)|Screening]] is made by taking a [[family history]] and a [[physical examination]], and confirmed with genetic testing.<ref name="pmid282300613" />
* It is important to take into account that [[family history]] may be negative in a patient with [[neurofibromatosis type 1]] due to death of parents at an early age.<ref name="pmid20301288" />
* There is a general consensus for [[genetic testing]] in children presenting with typical features of [[neurofibromatosis type 1]] ([[Neurofibroma|neurofibromas]], more than 6 [[Cafe au lait Spot|cafe au lait macules]], [[Lisch nodule|Lisch nodules]]).<ref name="pmid25211147">{{cite journal |vauthors=Ruggieri M, Polizzi A, Spalice A, Salpietro V, Caltabiano R, D'Orazi V, Pavone P, Pirrone C, Magro G, Platania N, Cavallaro S, Muglia M, Nicita F |title=The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features |journal=Clin. Genet. |volume=87 |issue=5 |pages=401–10 |date=May 2015 |pmid=25211147 |doi=10.1111/cge.12498 |url=}}</ref><ref name="pmid282300613" />
* Finding of 6 or more [[Cafe au lait|cafe au lait macules]] in patients of young age (less than 8 years old), is highly correlated with the diagnosis of [[neurofibromatosis type 1]] verified by [[genetic testing]].<ref name="pmid19687418">{{cite journal |vauthors=Nunley KS, Gao F, Albers AC, Bayliss SJ, Gutmann DH |title=Predictive value of café au lait macules at initial consultation in the diagnosis of neurofibromatosis type 1 |journal=Arch Dermatol |volume=145 |issue=8 |pages=883–7 |date=August 2009 |pmid=19687418 |doi=10.1001/archdermatol.2009.169 |url=}}</ref><ref name="pmid10699117">{{cite journal |vauthors=DeBella K, Szudek J, Friedman JM |title=Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children |journal=Pediatrics |volume=105 |issue=3 Pt 1 |pages=608–14 |date=March 2000 |pmid=10699117 |doi=10.1542/peds.105.3.608 |url=}}</ref><ref name="pmid282300613" />
* Mutations in ''[[NF1]]'' [[gene]] can be determined using a combination of molecular techniques, such as [[dHPLC]], direct sequencing, [[Fluorescence in situ hybridization|FISH]], [[MLPA]] and array [[Comparative genomic hybridization|CGH]].<ref name="pmid16944272">{{cite journal |vauthors=Griffiths S, Thompson P, Frayling I, Upadhyaya M |title=Molecular diagnosis of neurofibromatosis type 1: 2 years experience |journal=Fam. Cancer |volume=6 |issue=1 |pages=21–34 |date=2007 |pmid=16944272 |doi=10.1007/s10689-006-9001-3 |url=}}</ref><ref name="pmid10862084">{{cite journal |vauthors=Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD |title=Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects |journal=Hum. Mutat. |volume=15 |issue=6 |pages=541–55 |date=2000 |pmid=10862084 |doi=10.1002/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N |url=}}</ref><ref name="pmid17105749" />
* [[Prenatal ultrasound]] is usually of no utility, but has been reported positive in [[pregnant]] patients with severe [[Neurofibromatosis type 1|neurofibromatosis type]] 1 features.<ref name="pmid16981221">{{cite journal |vauthors=McEwing RL, Joelle R, Mohlo M, Bernard JP, Hillion Y, Ville Y |title=Prenatal diagnosis of neurofibromatosis type 1: sonographic and MRI findings |journal=Prenat. Diagn. |volume=26 |issue=12 |pages=1110–4 |date=December 2006 |pmid=16981221 |doi=10.1002/pd.1560 |url=}}</ref>
* [[Prenatal diagnosis|Prenatal screening]] has been controversial due to ethical issues of pregnancy termination in this condition.<ref name="pmid20301288" /><ref name="pmid12709270">{{cite journal |vauthors=Verlinsky Y, Rechitsky S, Verlinsky O, Chistokhina A, Sharapova T, Masciangelo C, Levy M, Kaplan B, Lederer K, Kuliev A |title=Preimplantation diagnosis for neurofibromatosis |journal=Reprod. Biomed. Online |volume=4 |issue=3 |pages=218–22 |date=2002 |pmid=12709270 |doi=10.1016/s1472-6483(10)61809-3 |url=}}</ref>
* Prenatal diagnosis of [[neurofibromatosis type 1]] can be made using cells of [[Embryo Screening|embryos]] as early as 3 day old<ref name="pmid17105749" />


OR
=== Risk to Family Members ===


According to the [guideline name], screening for [disease name] by [test 1] is recommended every [duration] among patients with:
* Parents of patients with [[neurofibromatosis type 1]] should be screened with a [[medical history]], [[Slit lamp|ophtalmologic]] and general [[physical examination]] paying particular attention to dermatologic features.<ref name="pmid20301288" /> If examination results normal in both parents, a [[De novo|''de novo'']] mutation is concluded, since [[Mosaic (genetics)|mosaicisms]] are rare.<ref name="pmid20301288" /><ref name="pmid7485153">{{cite journal |vauthors=Lázaro C, Gaona A, Lynch M, Kruyer H, Ravella A, Estivill X |title=Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism |journal=Am. J. Hum. Genet. |volume=57 |issue=5 |pages=1044–9 |date=November 1995 |pmid=7485153 |pmc=1801366 |doi= |url=}}</ref><ref name="pmid23621909">{{cite journal |vauthors=Trevisson E, Forzan M, Salviati L, Clementi M |title=Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism |journal=Clin. Genet. |volume=85 |issue=4 |pages=386–9 |date=April 2014 |pmid=23621909 |doi=10.1111/cge.12177 |url=}}</ref><ref name="pmid20503322">{{cite journal |vauthors=Bottillo I, Torrente I, Lanari V, Pinna V, Giustini S, Divona L, De Luca A, Dallapiccola B |title=Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion |journal=Am. J. Med. Genet. A |volume=152A |issue=6 |pages=1467–73 |date=June 2010 |pmid=20503322 |doi=10.1002/ajmg.a.33386 |url=}}</ref>
*[Condition 1]
* [[Genetic counseling]] should be offered to all individuals of [[reproductive age]] planning to conceive.<ref name="pmid20301288" /><ref name="pmid23656349">{{cite journal |vauthors=van Minkelen R, van Bever Y, Kromosoeto JN, Withagen-Hermans CJ, Nieuwlaat A, Halley DJ, van den Ouweland AM |title=A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands |journal=Clin. Genet. |volume=85 |issue=4 |pages=318–27 |date=April 2014 |pmid=23656349 |doi=10.1111/cge.12187 |url=}}</ref><ref name="pmid25557241">{{cite journal |vauthors=Merker VL, Murphy TP, Hughes JB, Muzikansky A, Hughes MR, Souter I, Plotkin SR |title=Outcomes of preimplantation genetic diagnosis in neurofibromatosis type 1 |journal=Fertil. Steril. |volume=103 |issue=3 |pages=761–8.e1 |date=March 2015 |pmid=25557241 |doi=10.1016/j.fertnstert.2014.11.021 |url=}}</ref>
*[Condition 2]
*[Condition 3]


<br />
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}


{{WH}}
{{WS}}
[[Category: (name of the system)]]
[[Category: (name of the system)]]

Latest revision as of 14:27, 1 September 2020

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Moises Romo M.D.

Overview

Neurofibromatosis type 1 is acquiered 50% of the time by inheritance. Screening is made by taking a family history and a physical examination, and confirmed with genetic testing. Prenatal screening is controversial.

Screening

Risk to Family Members


References

  1. ↑ 1.0 1.1 1.2 1.3 1.4 1.5
  2. ↑ 2.0 2.1 2.2
  3. ↑ 3.0 3.1 3.2 3.3
  4. ↑ Ruggieri M, Polizzi A, Spalice A, Salpietro V, Caltabiano R, D'Orazi V, Pavone P, Pirrone C, Magro G, Platania N, Cavallaro S, Muglia M, Nicita F (May 2015). "The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features". Clin. Genet. 87 (5): 401–10. doi:10.1111/cge.12498. PMID 25211147.
  5. ↑ Nunley KS, Gao F, Albers AC, Bayliss SJ, Gutmann DH (August 2009). "Predictive value of café au lait macules at initial consultation in the diagnosis of neurofibromatosis type 1". Arch Dermatol. 145 (8): 883–7. doi:10.1001/archdermatol.2009.169. PMID 19687418.
  6. ↑ DeBella K, Szudek J, Friedman JM (March 2000). "Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children". Pediatrics. 105 (3 Pt 1): 608–14. doi:10.1542/peds.105.3.608. PMID 10699117.
  7. ↑ Griffiths S, Thompson P, Frayling I, Upadhyaya M (2007). "Molecular diagnosis of neurofibromatosis type 1: 2 years experience". Fam. Cancer. 6 (1): 21–34. doi:10.1007/s10689-006-9001-3. PMID 16944272.
  8. ↑ Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD (2000). "Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects". Hum. Mutat. 15 (6): 541–55. doi:10.1002/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N. PMID 10862084.
  9. ↑ McEwing RL, Joelle R, Mohlo M, Bernard JP, Hillion Y, Ville Y (December 2006). "Prenatal diagnosis of neurofibromatosis type 1: sonographic and MRI findings". Prenat. Diagn. 26 (12): 1110–4. doi:10.1002/pd.1560. PMID 16981221.
  10. ↑ Verlinsky Y, Rechitsky S, Verlinsky O, Chistokhina A, Sharapova T, Masciangelo C, Levy M, Kaplan B, Lederer K, Kuliev A (2002). "Preimplantation diagnosis for neurofibromatosis". Reprod. Biomed. Online. 4 (3): 218–22. doi:10.1016/s1472-6483(10)61809-3. PMID 12709270.
  11. ↑ Lázaro C, Gaona A, Lynch M, Kruyer H, Ravella A, Estivill X (November 1995). "Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism". Am. J. Hum. Genet. 57 (5): 1044–9. PMC 1801366. PMID 7485153.
  12. ↑ Trevisson E, Forzan M, Salviati L, Clementi M (April 2014). "Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism". Clin. Genet. 85 (4): 386–9. doi:10.1111/cge.12177. PMID 23621909.
  13. ↑ Bottillo I, Torrente I, Lanari V, Pinna V, Giustini S, Divona L, De Luca A, Dallapiccola B (June 2010). "Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion". Am. J. Med. Genet. A. 152A (6): 1467–73. doi:10.1002/ajmg.a.33386. PMID 20503322.
  14. ↑ van Minkelen R, van Bever Y, Kromosoeto JN, Withagen-Hermans CJ, Nieuwlaat A, Halley DJ, van den Ouweland AM (April 2014). "A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands". Clin. Genet. 85 (4): 318–27. doi:10.1111/cge.12187. PMID 23656349.
  15. ↑ Merker VL, Murphy TP, Hughes JB, Muzikansky A, Hughes MR, Souter I, Plotkin SR (March 2015). "Outcomes of preimplantation genetic diagnosis in neurofibromatosis type 1". Fertil. Steril. 103 (3): 761–8.e1. doi:10.1016/j.fertnstert.2014.11.021. PMID 25557241.
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