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Neurofibrosarcoma

MedGen UID:
451960
Concept ID:
CN117588
Finding
Synonyms: Malignant peripheral nerve sheath tumor; Malignant schwannoma; Neurosarcoma
 
HPO: HP:0100697

Definition

A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGNeurofibrosarcoma

Conditions with this feature

Neurofibromatosis, type 1
MedGen UID:
18013
Concept ID:
C0027831
Neoplastic Process
Neurofibromatosis 1 (NF1) is characterized by multiple café-au-lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include plexiform neurofibromas, optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy.
Noonan syndrome 1
MedGen UID:
22527
Concept ID:
C0041409
Disease or Syndrome
Noonan syndrome (NS) is characterized by short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, characteristic facies, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one third of affected individuals have mild intellectual disability.
Chromosome 17q11.2 deletion syndrome, 1.4-mb
MedGen UID:
462278
Concept ID:
C3150928
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).

Recent clinical studies

Etiology

Ioannidis S, Spyropoulou GA, Sadigh P, Shih HS, Jeng SF
Plast Reconstr Surg 2015 Feb;135(2):602-9. doi: 10.1097/PRS.0000000000000899. PMID: 25626802
Simon Z, Ress Z, Toldi J, Trauninger A, Miltényi Z, Illés A
Int J Hematol 2009 May;89(4):523-8. Epub 2009 Apr 21 doi: 10.1007/s12185-009-0281-x. [Epub ahead of print] PMID: 19381762
Neville H, Corpron C, Blakely ML, Andrassy R
J Pediatr Surg 2003 Mar;38(3):343-6; discussion 343-6. doi: 10.1053/jpsu.2003.50105. PMID: 12632346
Sar C, Eralp L
Arch Orthop Trauma Surg 2002 Mar;122(2):106-8. doi: 10.1007/s004020100309. PMID: 11880913
Ducatman BS, Scheithauer BW
Cancer 1983 Mar 15;51(6):1028-33. PMID: 6821867

Diagnosis

Thway K, Fisher C
Ann Diagn Pathol 2014 Apr;18(2):109-16. Epub 2013 Nov 23 doi: 10.1016/j.anndiagpath.2013.10.007. [Epub ahead of print] PMID: 24418643
Liu XF, Tang K, Sui LL, Xu G
World J Surg Oncol 2013 Aug 12;11(1):189. doi: 10.1186/1477-7819-11-189. [Epub ahead of print] PMID: 23938157Free PMC Article
Mills AM, Karamchandani JR, Vogel H, Longacre TA
Am J Surg Pathol 2011 Mar;35(3):404-12. doi: 10.1097/PAS.0b013e318208f72e. PMID: 21317712
Simon Z, Ress Z, Toldi J, Trauninger A, Miltényi Z, Illés A
Int J Hematol 2009 May;89(4):523-8. Epub 2009 Apr 21 doi: 10.1007/s12185-009-0281-x. [Epub ahead of print] PMID: 19381762
Kett-White R, Martin JL, Jones EW, O'Brien C
Spine (Phila Pa 1976) 2000 Mar 15;25(6):752-5. PMID: 10752112

Therapy

Ben Kridis W, Khanfir A, Frikha M
Acta Clin Belg 2013 Jul-Aug;68(4):309-10. doi: 10.2143/ACB.3351. PMID: 24455804
Steib JP, Bouchaïb J, Walter A, Schuller S, Charles YP
Eur Spine J 2010 Jul;19 Suppl 2:S220-5. Epub 2010 May 7 doi: 10.1007/s00586-010-1416-8. [Epub ahead of print] PMID: 20449613Free PMC Article
Lee JK, Choi B, Sobel RA, Chiocca EA, Martuza RL
J Neurosurg 1990 Sep;73(3):429-35. doi: 10.3171/jns.1990.73.3.0429. PMID: 1696626
Ducatman BS, Scheithauer BW
Cancer 1983 Mar 15;51(6):1028-33. PMID: 6821867
Chu JY, O'Connor DM, Danis RK
CA Cancer J Clin 1981 Nov-Dec;31(6):333-5. PMID: 6286055

Prognosis

Liu XF, Tang K, Sui LL, Xu G
World J Surg Oncol 2013 Aug 12;11(1):189. doi: 10.1186/1477-7819-11-189. [Epub ahead of print] PMID: 23938157Free PMC Article
Mills AM, Karamchandani JR, Vogel H, Longacre TA
Am J Surg Pathol 2011 Mar;35(3):404-12. doi: 10.1097/PAS.0b013e318208f72e. PMID: 21317712
Simon Z, Ress Z, Toldi J, Trauninger A, Miltényi Z, Illés A
Int J Hematol 2009 May;89(4):523-8. Epub 2009 Apr 21 doi: 10.1007/s12185-009-0281-x. [Epub ahead of print] PMID: 19381762
Sar C, Eralp L
Arch Orthop Trauma Surg 2002 Mar;122(2):106-8. doi: 10.1007/s004020100309. PMID: 11880913
Kett-White R, Martin JL, Jones EW, O'Brien C
Spine (Phila Pa 1976) 2000 Mar 15;25(6):752-5. PMID: 10752112

Clinical prediction guides

Tavasoly A, Javanbakht J, Khaki F, Hosseini E, Bahrami A, Hassan MA, Mirabad M
Diagn Pathol 2013 May 20;8:86. doi: 10.1186/1746-1596-8-86. [Epub ahead of print] PMID: 23688209Free PMC Article
Badache A, De Vries GH
J Cell Physiol 1998 Nov;177(2):334-42. doi: 10.1002/(SICI)1097-4652(199811)177:2<334::AID-JCP15>3.0.CO;2-9. PMID: 9766530
Rey JA, Bello MJ, Kusak ME, de Campos JM, Pestaña A
Cancer Genet Cytogenet 1993 Mar;66(1):28-32. PMID: 8467471
Ducatman BS, Scheithauer BW
Cancer 1983 Mar 15;51(6):1028-33. PMID: 6821867
Friedman JM, Fialkow PJ, Greene CL, Weinberg MN
J Natl Cancer Inst 1982 Dec;69(6):1289-92. PMID: 6815362

Recent systematic reviews

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