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Spinal neurofibroma

MedGen UID:
869787
Concept ID:
C4024217
Neoplastic Process
Synonym: Spinal neurofibromas
 
HPO: HP:0009735

Definition

A neurofibroma (benign peripheral nerve sheath tumor) localized in the spine. [from HPO]

Conditions with this feature

Neurofibromatosis, type 1
MedGen UID:
18013
Concept ID:
C0027831
Neoplastic Process
Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability or behavior problems. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Plexiform neurofibromas can cause pain, neurologic deficits, and abnormalities of involved or adjacent structures. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, vasculopathy, and gastrointestinal, endocrine, or pulmonary disease.
Neurofibromatosis, familial spinal
MedGen UID:
320296
Concept ID:
C1834235
Disease or Syndrome
Spinal neurofibromatosis is an autosomal dominant disorder characterized by a high load of spinal tumors. These tumors may be asymptomatic or result in neurologic symptoms, including back pain, difficulty walking, and paresthesias. Spinal NF is considered to be a subtype of neurofibromatosis type I (NF1; 162200), which is an allelic disorder. Patients with spinal NF may or may not have the classic cutaneous cafe-au-lait pigmentary macules or ocular Lisch nodules typically observed in patients with classic NF1. Patients with spinal NF should be followed closely for spinal sequelae (summary by Burkitt Wright et al., 2013).
Chromosome 17q11.2 deletion syndrome, 1.4Mb
MedGen UID:
1726802
Concept ID:
C5401456
Disease or Syndrome
Approximately 5 to 20% of all patients with neurofibromatosis type I (162200) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et al., 2001), which is caused by nonallelic homologous recombination of NF1 repeats A and C (Dorschner et al., 2000). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas (Venturin et al., 2004), and an increased risk for malignant peripheral nerve sheath tumors (De Raedt et al., 2003).

Professional guidelines

PubMed

Nosadini M, Thomas T, Eyre M, Anlar B, Armangue T, Benseler SM, Cellucci T, Deiva K, Gallentine W, Gombolay G, Gorman MP, Hacohen Y, Jiang Y, Lim BC, Muscal E, Ndondo A, Neuteboom R, Rostásy K, Sakuma H, Sharma S, Tenembaum SN, Van Mater HA, Wells E, Wickstrom R, Yeshokumar AK, Irani SR, Dalmau J, Lim M, Dale RC
Neurol Neuroimmunol Neuroinflamm 2021 Jul;8(5) Epub 2021 Jul 22 doi: 10.1212/NXI.0000000000001052. PMID: 34301820Free PMC Article
Rudà R, Reifenberger G, Frappaz D, Pfister SM, Laprie A, Santarius T, Roth P, Tonn JC, Soffietti R, Weller M, Moyal EC
Neuro Oncol 2018 Mar 27;20(4):445-456. doi: 10.1093/neuonc/nox166. PMID: 29194500Free PMC Article
Cox BW, Spratt DE, Lovelock M, Bilsky MH, Lis E, Ryu S, Sheehan J, Gerszten PC, Chang E, Gibbs I, Soltys S, Sahgal A, Deasy J, Flickinger J, Quader M, Mindea S, Yamada Y
Int J Radiat Oncol Biol Phys 2012 Aug 1;83(5):e597-605. Epub 2012 May 19 doi: 10.1016/j.ijrobp.2012.03.009. PMID: 22608954

Recent clinical studies

Etiology

Poriazova EG, Boykinova OB, Ivanov IS, Spasova MI, Bozhilov GB, Kevorkyan AK, Novakov SS
Folia Med (Plovdiv) 2017 Sep 1;59(3):357-361. doi: 10.1515/folmed-2017-0042. PMID: 28976901
Nguyen R, Dombi E, Akshintala S, Baldwin A, Widemann BC
J Neurooncol 2015 Jan;121(1):209-15. Epub 2014 Oct 8 doi: 10.1007/s11060-014-1629-5. PMID: 25293439
Seppälä MT, Haltia MJ, Sankila RJ, Jääskeläinen JE, Heiskanen O
J Neurosurg 1995 Apr;82(4):572-7. doi: 10.3171/jns.1995.82.4.0572. PMID: 7897516
Hartley AL, Birch JM, Blair V, Jones PM, Gattamaneni HR, Kelsey AM
Med Pediatr Oncol 1994;22(5):318-24. doi: 10.1002/mpo.2950220504. PMID: 8127255

Diagnosis

Poriazova EG, Boykinova OB, Ivanov IS, Spasova MI, Bozhilov GB, Kevorkyan AK, Novakov SS
Folia Med (Plovdiv) 2017 Sep 1;59(3):357-361. doi: 10.1515/folmed-2017-0042. PMID: 28976901
Rosario MS, Murakami H, Kato S, Fujii M, Yonezawa N, Tsuchiya H
J Orthop Surg (Hong Kong) 2017 Jan;25(1):2309499017691003. doi: 10.1177/2309499017691003. PMID: 28219304
Seppälä MT, Haltia MJ, Sankila RJ, Jääskeläinen JE, Heiskanen O
J Neurosurg 1995 Apr;82(4):572-7. doi: 10.3171/jns.1995.82.4.0572. PMID: 7897516
Sanguinetti C, Specchia N, Gigante A, de Palma L, Greco F
J Bone Joint Surg Br 1993 Jan;75(1):141-7. doi: 10.1302/0301-620X.75B1.8421013. PMID: 8421013
Huson SM, Harper PS, Compston DA
Brain 1988 Dec;111 ( Pt 6):1355-81. doi: 10.1093/brain/111.6.1355. PMID: 3145091

Prognosis

Poriazova EG, Boykinova OB, Ivanov IS, Spasova MI, Bozhilov GB, Kevorkyan AK, Novakov SS
Folia Med (Plovdiv) 2017 Sep 1;59(3):357-361. doi: 10.1515/folmed-2017-0042. PMID: 28976901
Abd Elwahab SM, O'Sullivan MJ
Spine J 2015 Apr 1;15(4):e1-3. Epub 2014 Dec 9 doi: 10.1016/j.spinee.2014.12.007. PMID: 25500263
Nguyen R, Dombi E, Akshintala S, Baldwin A, Widemann BC
J Neurooncol 2015 Jan;121(1):209-15. Epub 2014 Oct 8 doi: 10.1007/s11060-014-1629-5. PMID: 25293439
Seppälä MT, Haltia MJ, Sankila RJ, Jääskeläinen JE, Heiskanen O
J Neurosurg 1995 Apr;82(4):572-7. doi: 10.3171/jns.1995.82.4.0572. PMID: 7897516
Turgut M, Ozcan OE, Sağlam S
Eur Neurol 1991;31(4):188-92. doi: 10.1159/000116676. PMID: 1907915

Clinical prediction guides

Nguyen R, Dombi E, Akshintala S, Baldwin A, Widemann BC
J Neurooncol 2015 Jan;121(1):209-15. Epub 2014 Oct 8 doi: 10.1007/s11060-014-1629-5. PMID: 25293439

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