Neurofibromatosis type 1 diagnostic study of choice
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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
Diagnostic Study of Choice
Study of choice
[Name of the investigation] is the gold standard test for the diagnosis of [disease name].
OR
The following result of [gold standard test] is confirmatory of [disease name]:
- [Result 1]
- [Result 2]
OR
[Name of the investigation] must be performed when:
- The patient presents with [symptom/sign 1], [symptom/sign 2], and [symptom/sign 3].
- A [name of test] is positive for [sign 1], [sign 2], and [sign 3] in the patient.
OR
[Name of the investigation] is the gold standard test for the diagnosis of [disease name].
OR
The diagnostic study of choice for [disease name] is [name of the investigation].
OR
There is no single diagnostic study of choice for the diagnosis of [disease name].
OR
There is no single diagnostic study of choice for the diagnosis of [disease name], but [disease name] can be diagnosed based on [name of the investigation 1] and [name of the investigation 2].
OR
[Disease name] is primarily diagnosed based on the clinical presentation.
OR
Investigations:
- Among the patients who present with clinical signs of [disease name], the [investigation name] is the most specific test for the diagnosis.
- Among the patients who present with clinical signs of [disease name], the [investigation name] is the most sensitive test for diagnosis.
- Among the patients who present with clinical signs of [disease name], the [investigation name] is the most efficient test for diagnosis.
The comparison of various diagnostic studies for [disease name]
| Test | Sensitivity | Specificity |
|---|---|---|
| Test 1 | ...% | ...% |
| Test 2 | ...% | ...% |
[Name of test with higher sensitivity and specificity] is the preferred investigation based on the sensitivity and specificity
Diagnostic results
The following finding(s) on performing [investigation name] is(are) confirmatory for [disease name]:
- [Finding 1]
- [Finding 2]
Sequence of Diagnostic Studies
The [name of investigation] must be performed when:
- The patient presented with symptoms/signs 1, 2, and 3 as the first step of diagnosis.
- A positive [test] is detected in the patient, to confirm the diagnosis.
OR
The various investigations must be performed in the following order:
- [Initial investigation]
- [2nd investigation]
Name of Diagnostic Criteria
It is recommended that you include the criteria in a table. Make sure you always cite the source of the content and whether the table has been adapted from another source.
[Disease name] is primarily diagnosed based on clinical presentation. There are no established criteria for the diagnosis of [disease name].
OR
There is no single diagnostic study of choice for [disease name], though [disease name] may be diagnosed based on [name of criteria] established by [...].
OR
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
OR
The diagnosis of [disease name] is based on the [criteria name] criteria, which includes [criterion 1], [criterion 2], and [criterion 3].
OR
[Disease name] may be diagnosed at any time if one or more of the following criteria are met:
- Criteria 1
- Criteria 2
- Criteria 3
OR
IF there are clear, established diagnostic criteria
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
OR
The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
OR
The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
OR
IF there are no established diagnostic criteria
There are no established criteria for the diagnosis of [disease name].
NF1 is often diagnosed early on in childhood.[1]
Disorders that have overlapping features with neurofibromatosis type 1 should be considered in the differential diagnosis, which can include Legius syndrome, skin hyperpigmentation, mismatch repair and overgrowth syndromes and from tumours that are misidentified as neurofibromas (lipomas). Mutations in SPRED1 cause Legius syndrome, which is characterized by CALMs, skinfold freckling, learning difficulties and macrocephaly, but not neurofibromas, Lisch nodules or central nervous system tumours.[2][3] Genetic testing can help to differentiate between a diagnosis of neurofibromatosis type 1 and Legius syndrome. Importantly, neurofibromatosis type 1 is clinically and genetically distinct from other rare tumour predisposition conditions, such as neurofibromatosis type 2 (which is caused by mutations in NF2)[2][4] and from schwannomatosis (which is associated with mutations in SMARCB1 or LZTR1)101,102.[2][5]
The National Institute of Health (NIH) has created specific criteria for the diagnosis of NF-1. Two of these seven "Cardinal Clinical Features" are required for positive diagnosis.[6]
- 6 or more café-au-lait macules over 5 mm in greatest diameter in pre-pubertal individuals and over 15 mm in greatest diameter in post-pubertal individuals
- 2 or more neurofibromas of any type or 1 plexiform neurofibroma
- Freckling in the axillary or inguinal regions
- Optic glioma
- 2 or more Lisch nodules (iris harmartomas)
- A distinctive osseous lesion such as sphenoid dysplasia or thinning of the long bone cortex with or without pseudarthrosis
- A first degree relative (parent, sibling, or offspring) with NF1 by the above criteria
References
- ↑ Rad E, Tee AR (April 2016). "Neurofibromatosis type 1: Fundamental insights into cell signalling and cancer". Semin. Cell Dev. Biol. 52: 39–46. doi:10.1016/j.semcdb.2016.02.007. PMID 26860753.
- ↑ 2.0 2.1 2.2 Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ (February 2017). "Neurofibromatosis type 1". Nat Rev Dis Primers. 3: 17004. doi:10.1038/nrdp.2017.4. PMID 28230061.
- ↑ Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, Spencer E, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen BH, Escobar L, Eunpu D, Grebe T, Greenstein R, Hachen R, Irons M, Kronn D, Lemire E, Leppig K, Lim C, McDonald M, Narayanan V, Pearn A, Pedersen R, Powell B, Shapiro LR, Skidmore D, Tegay D, Thiese H, Zackai EH, Vijzelaar R, Taniguchi K, Ayada T, Okamoto F, Yoshimura A, Parret A, Korf B, Legius E (November 2009). "Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome". JAMA. 302 (19): 2111–8. doi:10.1001/jama.2009.1663. PMID 19920235.
- ↑ Trofatter JA, MacCollin MM, Rutter JL, Murrell JR, Duyao MP, Parry DM, Eldridge R, Kley N, Menon AG, Pulaski K (March 1993). "A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor". Cell. 72 (5): 791–800. doi:10.1016/0092-8674(93)90406-g. PMID 8453669.
- ↑ Hulsebos TJ, Plomp AS, Wolterman RA, Robanus-Maandag EC, Baas F, Wesseling P (April 2007). "Germline mutation of INI1/SMARCB1 in familial schwannomatosis". Am. J. Hum. Genet. 80 (4): 805–10. doi:10.1086/513207. PMC 1852715. PMID 17357086.
- ↑ Huson SM, Hughes RAC. The Neurofibromatoses. London, UK: Chapman and Hall; 1994;1.3.2:9