mp-620 - mp-620 - Medical Policies
Genetic testing for Neurofibromatosis
Policy Number: MP-620
ARCHIVED – Refer to AIM Genetic Testing Guidelines effective 3/1/20
Latest Review Date: January 2020
Policy Grade: C
Genetic testing for neurofibromatosis may be considered medically necessary when the diagnosis is clinically suspected due to signs of disease, but a definitive diagnosis cannot be made without genetic testing.
Genetic testing for neurofibromatosis in at-risk relatives with no signs of disease may be considered medically necessary when a definitive diagnosis cannot be made without genetic testing AND at least ONE of the following criteria is met:
- A close relative (i.e. first, second, or third degree relative) has a known NF mutation; OR
- A close relative has been diagnosed with neurofibromatosis but whose genetic status is unavailable.
Genetic testing for neurofibromatosis is considered not medically necessary and investigational for all other situations not meeting the criteria outlined above.
DESCRIPTION OF PROCEDURE OR SERVICE:
Neurofibromatoses are autosomal dominant genetic disorders associated with tumors of the peripheral and central nervous systems. There are three clinically and genetically distinct forms: neurofibromatosis (NF) Type 1 (NF1), NF Type 2 (NF2), and schwannomatosis. The potential benefit of genetic testing for NF is to confirm the diagnosis in an individual with suspected NF who does not fulfill diagnostic clinical criteria, or to determine future risk of NF in asymptomatic at-risk relatives.
There are three major clinically and genetically distinct forms of neurofibromatosis (NF): NF Type 1 (NF1; also known as von Recklinghausen disease), NF Type 2 (NF2), and schwannomatosis.
Neurofibromatosis Type 1
NF1 is one of the most common dominantly inherited genetic disorders, with an incidence at birth of one in 3000 individuals.
The clinical manifestations of NF1 show extreme variability, between unrelated individuals, among affected individuals within a single family, and within a single person at different times in life.
NF1 is characterized by multiple café-au-lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules. It is referred to as segmental NF1 when limited to one area of the body. Many individuals with NF1 only develop cutaneous manifestations of the disease and Lisch nodules.
Café-au-lait spots occur in nearly all affected individuals and intertriginous freckling occurs in almost 90%. Café-au-lait spots are common in the general population, but when more than six are present, NF1 should be suspected. Café-au-lait spots are often present at birth and increase in number during the first few years of life.
Neurofibromas are benign tumors of Schwann cells that affect virtually any nerve in the body and develop most people with NF1. They are divided into cutaneous and plexiform types. Cutaneous neurofibromas, which develop in almost all people with NF1, are discrete, soft, sessile, or pedunculated tumors. Discrete cutaneous and subcutaneous neurofibromas are rare before late childhood. They may vary from a few to hundreds or thousands, and the rate of development may vary greatly from year to year. Cutaneous neurofibromas do not carry a risk of malignant transformation, but may be a major cosmetic problem in adults.
Plexiform neurofibromas, which occur in about half of individuals with NF1, are more diffuse growths that may be locally invasive. They can be superficial or deep and, therefore, the extent cannot be determined by clinical examination alone; magnetic resonance imaging (MRI) is the method of choice for imaging plexiform neurofibromas. Plexiform neurofibromas represent a major cause of morbidity and disfigurement in individuals with NF1. They tend to develop and grow in childhood and adolescence and then stabilize throughout adulthood. Plexiform neurofibromas can compress the spinal cord or airway and can transform into malignant peripheral nerve sheath tumors (MPNST). MPNST occur in approximately 10% of affected individuals.
Central Nervous System Tumors
Optic gliomas, which can lead to blindness, develop in the first six years of life. Symptomatic optic gliomas usually present before six years of age with loss of visual acuity or proptosis, but they may not become symptomatic until later in childhood or in adulthood.
While optic pathway gliomas are particularly associated with NF1, other CNS tumors occur at higher frequency in NF1, including astrocytomas and brainstem gliomas.
Other findings in NF1 include:
- Intellectual disability occurs at a frequency of about twice that in the general population, and features of autism spectrum disorder occur in up to 30% of children with NF1.
- Musculoskeletal features include dysplasia of the long bones, most often the tibia and fibula, which is almost always unilateral. Generalized osteopenia is more common in people with NF1 and osteoporosis is more common and occurs at a younger age than in the general population.
- Cardiovascular involvement includes the common occurrence of hypertension. Vasculopathies may involve major arteries or arteries of the heart or brain and can have serious or fatal consequences. Cardiac issues include valvar pulmonic stenosis, and congenital heart defects and hypertrophic cardiomyopathy may be especially frequent in individuals with NF1 whole gene deletions. Adults may develop pulmonary hypertension, often in association with parenchymal lung disease.
- Lisch nodules are innocuous hamartomas of the iris.
Although the clinical manifestations of NF1 are extremely variable and some are age-dependent, the diagnosis can usually made on clinical findings, and genetic testing is rarely needed for diagnosis.
The clinical diagnosis of NF1 should be suspected in individuals with the diagnostic criteria for NF1 developed by the National Institute of Health (NIH). The criteria are met when an individual has two or more of the following features:
Six or more café-au-lait macules over 5 mm in greatest diameter in prepubertal individuals and over 15 mm in postpubertal individuals
- Two or more neurofibromas of any type or one plexiform neurofibroma
- Freckling in the axillary or inguinal regions
- Optic glioma
- Two or more Lisch nodules (raised, tan-colored hamartomas of the iris)
- A distinctive osseous lesion such as sphenoid dysplasia or tibial pseudoarthrosis
- A first degree relative with NF1 as defined by the above criteria.
In adults, the clinical diagnostic criteria are highly specific and sensitive for a diagnosis of NF1.
Approximately half of children with NF1 and no known family history of NF1 meet NIH criteria for the clinical diagnosis by age one year. Almost all do by age eight years of age because many features of NF1 increase in frequency with age. Children who have inherited NF1 from an affected parent can usually be diagnosed within the first year of life because the diagnosis requires one diagnostic clinical feature in addition to a family history of the disease. This feature is usually multiple café-au-lait spots, present in infancy in more than 95% of individuals with NF1.
Young children with multiple café-au-lait spots and no other features of NF1 who do not have a parent with signs of NF1 should be suspected of having NF1, and followed clinically as if they do. A definitive diagnosis of NF1 can be made in most children by four years of age using NIH criteria.
NF1 is caused by dominant loss-of-function mutations in the NF1 gene, which is a tumor suppressor gene located at chromosome 17q11.2 that encodes neurofibromin, a negative regulator of RAS activity. About half of affected individuals have a de novo NF1 variant. Penetrance is virtually complete after childhood, though expressivity is highly variable.
The variants responsible for NF1 are heterogeneous, and include nonsense and missense single nucleotide changes, single base insertions/deletions, splicing mutations (~30% of cases), whole gene deletions (~5% of cases), intragenic copy number variants, and other structural rearrangements. Several thousand pathogenic NF1 mutations have been identified, and none is frequent.
Patient management guidelines for NF1 have been developed by the American Academy of Pediatrics, the National Society of Genetic Counselors and other expert groups.
After an initial diagnosis of NF1, the extent of the disease should be established, with personal medical history and physical examination and particular attention to features of NF1, ophthalmologic evaluation including slit lamp examination of the irides, developmental assessment in children, and other studies as indicated on the basis of clinically apparent signs or symptoms.
Surveillance recommendations for an individual with NF1 are for regular annual visits to include skin examination for new peripheral neurofibromas, signs of plexiform neurofibroma or progression of existing lesions, checks for hypertension, other studies (e.g., MRI) as indicated based on clinically apparent signs or symptoms, and monitoring of abnormalities of the central nervous system, skeletal system, or cardiovascular system by an appropriate specialist. In children, recommendations are for annual ophthalmologic examination in early childhood (less frequently in older children and adults), and regular developmental assessment.
Long-term care for individuals with NF1 aims at early detection and symptomatic treatment of complications.
It is recommended that radiotherapy be avoided, if possible, because radiotherapy in individuals with NF1 appears to be associated with a high risk of developing MPNST within the field of treatment.
A few clinical syndromes may have clinical overlap with NF1, including Proteus syndrome, Noonan syndrome, McCune-Albright syndrome, and LEOPARD syndrome, but in most cases patients will be missing key features or will have features of the alternative disorder. However, Legius syndrome is a rare autosomal dominant disorder characterized but multiple café-au-lait macules, intertriginous freckling, macrocephaly, lipomas, and potential attention deficit-hyperactivity disorder. Misdiagnosis of Legius syndrome as NF1 might result in overtreatment and psychological burden on families with regard to potential serious neurofibromatosis related complications.
Legius syndrome is associated with pathogenic loss-of-function variants in the SPRED1 gene on chromosome 15, which is the only known gene associated with Legius syndrome.
Legius syndrome typically follows a benign course and management generally focuses on the treatment of manifestations and prevention of secondary complications. Treatment of manifestations includes behavioral modification and/or pharmacologic therapy for those with ADHD; physical, speech, and occupational therapy for those with identified developmental delays; and individualized education plans for those with learning disorders.
Neurofibromatosis Type 2
NF2 (also known as bilateral acoustic neurofibromatosis and central neurofibromatosis) is estimated to occur in one in 33,000 individuals.
NF2 is characterized by bilateral vestibular schwannomas and associated symptoms of tinnitus, hearing loss, and balance dysfunction. Average age of onset is 18 to 24 years, and almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. Affected individuals may also develop schwannomas of other cranial and peripheral nerves, ependymomas, meningioma, and, rarely, astrocytoma. The most common ocular finding, which may be the first sign of NF2, is posterior subcapsular lens opacities; they rarely progress to visually significant cataracts.
Most patients with NF2 present with hearing loss, which is usually unilateral at onset. Hearing loss may be accompanied or preceded by tinnitus. Occasionally, features such as dizziness or imbalance are the first symptom. A significant proportion of cases (20%-30%) present with an intracranial meningioma, spinal, or cutaneous tumor. The presentation in the pediatric population may differ from the adult population, in that, in children, vestibular schwannomas may account for as little as 15% to 30% of initial symptoms.
The diagnosis of NF2 is usually made on clinical findings. Modified NIH diagnostic clinical criteria are one of the following:
- Bilateral vestibular schwannomas
- A first-degree relative with NF2 AND
- Unilateral vestibular schwannoma OR
- Any two of: meningioma, schwannoma, glioma, neurofibroma, posterior subcapsular lenticular opacities.
- Multiple meningiomas AND
- Unilateral vestibular schwannoma OR
- Any two of: schwannoma, glioma, neurofibroma, cataract.
NF2 is inherited in an autosomal dominant manner; approximately 50% of individuals have an affected parent and the other 50% have NF2 as a result of a de novo mutation.
Between 25% and 33% of individuals with NF2 caused by a de novo mutation have somatic mosaicism. Variant detection rates are lower in simplex cases and in an individual in the first generation of a family to have NF2 because they are more likely to have somatic mosaicism. Somatic mosaicism can make clinical recognition of NF2 difficult and results in lower mutation detection rates. Clinical recognition of NF2 in these patients may be more difficult because these individuals may not have bilateral vestibular schwannomas. Variant detection rates may be lower because molecular genetic testing may be normal in unaffected tissue (e.g., lymphocytes), and molecular testing of tumor tissue may be necessary to establish the presence of somatic mosaicism.
In an individual diagnosed with NF2, it is recommended that an initial evaluation establishes the extent of the disease, typically using head MRI, hearing evaluation, and ophthalmologic and cutaneous examinations.
Counseling is recommended for insidious problems with balance and underwater disorientation, which can result in drowning.
Hearing preservation and augmentation are part of the management of NF2, as is early recognition and management of visual impairment from other manifestations of NF2. Therefore, routine hearing and eye examination should be a part of care of individuals with NF2.
Surveillance measures for affected or at-risk individuals include annual MRI beginning at around age 10 and continuing until at least the fourth decade of life.
Treatment of manifestations includes surgical resection of small vestibular schwannomas, which may often be completely resected with preservation of hearing and facial nerve function. Larger tumors are often managed expectantly with debulking or decompression when brain stem compression, deterioration of hearing, and/or facial nerve dysfunction occurs.
Radiotherapy should be avoided, because radiotherapy of NF2-associated tumors, especially in childhood, may induce, accelerate, or transform tumors.
Evaluation of At-Risk Relatives
Early identification of relatives who have inherited the family-specific NF2 mutation allows for appropriate screening using MRI for neuroimaging and audiologic evaluation, which results in earlier detection and improved outcomes. Identification of at-risk relatives who do not have the family-specific NF2 mutation eliminates the need for surveillance.
Schwannomatosis is a rare condition that is defined as multiple schwannomas without vestibular schwannomas that are diagnostic of NF2. Individuals with schwannomatosis may develop intracranial, spinal nerve root, or peripheral nerve tumors. Familial cases are inherited in an autosomal dominant manner, with highly variable expressivity and incomplete penetrance. Clinically, schwannomatosis is distinct from NF1 and NF2, although some individuals eventually fulfill diagnostic criteria for NF2. SMARCB1 variants have been shown to cause 30% to 60% of familial schwannomatosis but only a small number of simplex disease.
The most recent literature was updated through November 20, 2019.
Summary of Evidence
For individuals who have suspected NF who receive genetic testing for NF, the evidence includes clinical validation studies of a multistep diagnostic protocol and genotype-phenotype correlation studies. The relevant outcomes are test accuracy and validity, symptoms, morbid events, and functional outcomes. A multistep mutation testing protocol identifies more than 95% of pathogenic variants in NF1 and for NF2, the variant detection rate approaches more than 70% in simplex cases and exceeds 90% for familial cases. The evidence is sufficient to determine that the technology results in a meaningful improvement in the net health outcome.
Validation studies of a multistep diagnostic protocol and genotype-phenotype correlation studies. The relevant outcomes are test accuracy and validity, symptoms, morbid events, and functional outcomes. A multistep variant testing protocol identifies more than 95% of pathogenic variants in NF type 1; for NF type 2, the variant detection rate approaches more than 70% in simplex cases and exceeds 90% for familial cases. The evidence is sufficient to determine that the technology results in a meaningful improvement in the net health outcome.
For individuals who are asymptomatic with a close relative(s) with a NF diagnosis who receive genetic testing for NF, there is no direct evidence. The relevant outcomes are test accuracy and validity, symptoms, morbid events, and functional outcomes. For individuals with a known pathogenic variant in the family, testing of at-risk relatives will confirm or exclude the variant with high certainty. Direct evidence on the clinical utility of genetic testing for NF is lacking, but a definitive diagnosis resulting from genetic testing, can direct patient care according to established clinical management guidelines, including referrals to the proper specialists, treatment of manifestations, and surveillance. Testing of at-risk relatives will lead to initiation or avoidance of management and/or surveillance. Early surveillance may be particularly important for patients with NF2, because early identification of internal lesions by imaging is expected to improve outcomes. The evidence is sufficient to determine that the technology results in a meaningful improvement in the net health outcome.
Practice Guidelines and Position Statements
The American Academy of Pediatrics (2019) published diagnostic and health supervision guidelines for children with NF1. The guidance makes the following statements related to genetic testing:
"NF1 genetic testing may be performed for purposes of diagnosis or to assist in genetic counseling and family planning. If a child fulfills diagnostic criteria for NF1, molecular genetic confirmation is usually unnecessary. For a young child who presents only with [café-au-lait macules], NF1 genetic testing can confirm a suspected diagnosis before a second feature, such as skinfold freckling, appears. Some families may wish to establish a definitive diagnosis as soon as possible and not wait for this second feature, and genetic testing can usually resolve the issue" and "Knowledge of the NF1 [pathogenic sequence variant] can enable testing of other family members and prenatal diagnostic testing."
The guidance includes the following summary and recommendations about genetic testing:
- can confirm a suspected diagnosis before a clinical diagnosis is possible;
- can differentiate NF1 from Legius syndrome;
- may be helpful in
- children who present with atypical features;
- usually does not predict future complications; and
- may not detect all
- cases of NF1; a negative genetic test rules out a diagnosis of NF1 with 95% (but not 100%) sensitivity
U.S. Preventive Services Task Force Recommendations
Neurofibromatosis 1, Neurofibromatosis 2, Neurofibromatosis, NF1, NF2, Genetic testing, Café-au-lait, Schwannomatosis, SPRED1, von Recklinghausen disease
APPROVED BY GOVERNING BODIES:
Clinical laboratories may develop and validate tests in-house and market them as a laboratory service; laboratory-developed tests (LDTs) must meet the general regulatory standards of the Clinical Laboratory Improvement Act (CLIA). Lab tests for neurofibromatosis are available under the auspices of CLIA. Laboratories that offer LDTs must be licensed by CLIA for high-complexity testing. To date, the U.S. Food and Drug Administration has chosen not to require any regulatory review of this test.
Coverage is subject to member’s specific benefits. Group specific policy will supersede this policy when applicable.
ITS: Home Policy provisions apply.
FEP: Special benefit consideration may apply. Refer to member’s benefit plan. FEP does not consider investigational if FDA approved and will be reviewed for medical necessity.
NF2 (neurofibromin 2 [merlin]) (e.g., neurofibromatosis, type 2), duplication/deletion analysis
NF2 (neurofibromin 2 [merlin]) (e.g., neurofibromatosis, type 2), full gene sequence
NF1 (neurofibromin 1) (e.g., neurofibromatosis, type 1), full gene sequence
- ARUP Laboratories. Neurofibromatosis Type 1 (NF1) sequencing and deletion/duplication. 2016; //ltd.aruplab.com/Tests/Pub/2007154. Accessed January 2018.
- Bernier A, Larbrisseau A, Perreault S. Cafe-au-lait macules and neurofibromatosis type 1: a review of the literature. Pediatr Neurol. Jul 2016; 60:24-29 e21.
- Bianchessi D, Morosini S, Saletti V, et al. 126 novel mutations in Italian patients with neurofibromatosis type 1. Mol Genet Genomic Med. Nov 2015; 3(6):513-525.
- Cali F, Chiavetta V, Ruggeri G, et al. Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM platform. Eur J Med Genet. Feb 2017; 60(2):93-99.
- Evans DG, Sainio M, Baser ME. Neurofibromatosis type 2. J Med Genet. Dec 2000; 37(12):897-904.
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- Evans DG. Neurofibromatosis type 2. In: UpToDate, ed. UpToDate. Waltham, MA; 2015.
- Evans DG, Ramsden RT, Shenton A, et al. Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification. J Med Genet. Jul 2007; 44(7):424-428.
- Friedman JM. Neurofibromatosis 1. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews(R). Seattle (WA); 1993.
- Hersh JH. Health supervision for children with neurofibromatosis. Pediatrics. Mar 2008; 121(3):633-642.
- Hutter S, Piro RM, Waszak SM, et al. No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients. Hum Genet. May 2016; 135(5):469-475.
- Ko JM, Sohn YB, Jeong SY, et al. Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis Type 1. Pediatr Neurol. Jun 2013; 48(6):447-453.
- Mautner VF, Kluwe L, Friedrich RE, et al. Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. J Med Genet. Sep 2010; 47(9):623-630.
- Messiaen L, Yao S, Brems H, et al. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA. Nov 18 2009; 302(19):2111-2118.
- Miller DT, Freedenberg D, Schorry E, et al. Health Supervision for Children With Neurofibromatosis Type 1.. Pediatrics, 2019 Apr 24; 143(5).
- Pasmant E, Sabbagh A, Hanna N, et al. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. J Med Genet. Jul 2009; 46(7):425-430.
- Pasmant E, Sabbagh A, Spurlock G, et al. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat. Jun 2010; 31(6):E1506-1518.
- Pinna V, Lanari V, Daniele P, et al. p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas. Eur J Hum Genet. Aug 2015; 23(8):1068-1071.
- Rojnueangnit K, Xie J, Gomes A, et al. High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotypephenotype correlation. Hum Mutat. Nov 2015; 36(11):1052-1063.
- Sabbagh A, Pasmant E, Imbard A, et al. NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. Hum Mutat. Nov 2013; 34(11):1510-1518.
- Selvanathan SK, Shenton A, Ferner R, et al. Further genotype--phenotype correlations in neurofibromatosis 2. Clin Genet. Feb 2010; 77(2):163-170.
- Spurlock G, Bennett E, Chuzhanova N, et al. SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. J Med Genet. Jul 2009; 46(7):431- 437.
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- Upadhyaya M, Huson SM, Davies M, et al. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet. Jan 2007; 80(1):140-151.
- Valero MC, Martin Y, Hernandez-Imaz E, et al. A highly sensitive genetic protocol to detect NF1 mutations. J Mol Diagn. Mar 2011; 13(2):113-122.
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- Wallace AJ, Watson CJ, Oward E, et al. Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis. Genet Test. Winter 2004; 8(4):368- 380.
- Zhang J, Tong H, Fu X, et al. Molecular characterization of NF1 and neurofibromatosis type 1 genotypephenotype correlations in a Chinese population. Sci Rep. Jun 09 2015; 5:11291.
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Medical Policy Group, July 2010
Medical Policy Group, April 2011
Medical Policy Group, February 2012
Medical Policy Group, February 2013
Medical Policy Group, January 2014
Medical Policy Panel, January 2016
Medical Policy Group, February 2016 (3): removed all aspects of genetic testing for Neurofibromatosis from medical policy #136 and created separate policy; Updated literature, Key Words & References; no change in policy statement
Medical Policy Panel, January 2017
Medical Policy Group, February 2017 (3): 2017 Updates to Description, Key Points, Key Words, & References; no change to Policy statements
Medical Policy Panel, January 2018
Medical Policy Group, January 2018 (3): 2018 Updates to Description, Key Points, & References; no change to policy statement.
Medical Policy Panel, January 2019
Medical Policy Group, February 2019 (9): 2019 Updates to Description and Key Points. No change to policy statement.
Medical Policy Panel, January 2020
Medical Policy Group, January 2020 (9): 2020 Updates to Description, Key Points, References. No change to policy statement.
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