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Neurofibrosarcoma

MedGen UID:
104927
Concept ID:
C0206729
Neoplastic Process
Synonyms: Neurofibrosarcomas; Neurogenic Sarcoma; Neurogenic Sarcomas; Sarcoma, Neurogenic; Sarcomas, Neurogenic
SNOMED CT: Neurofibrosarcoma (404037002)
 
HPO: HP:0100697
Monarch Initiative: MONDO:0002675
OMIM®: 600020

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,  VClinVar  

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.
Noonan syndrome 1
MedGen UID:
1638960
Concept ID:
C4551602
Disease or Syndrome
Noonan syndrome (NS) is characterized by characteristic facies, 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, 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 fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.
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

Bommer KK, Ramzy I, Mody D
Cancer 1997 Jun 25;81(3):148-56. doi: 10.1002/(sici)1097-0142(19970625)81:3<148::aid-cncr4>3.0.co;2-n. PMID: 9196013
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Recent clinical studies

Etiology

Kresbach C, Dottermusch M, Eckhardt A, Ristow I, Paplomatas P, Altendorf L, Wefers AK, Bockmayr M, Belakhoua S, Tran I, Pohl L, Neyazi S, Bode H, Farschtschi S, Well L, Friedrich RE, Reuss D, Snuderl M, Hagel C, Mautner VF, Schüller U
Neuro Oncol 2023 Sep 5;25(9):1644-1655. doi: 10.1093/neuonc/noad053. PMID: 36866403Free PMC Article
Isla A, García-Feijoo P, Gómez A, Valderrábano S, Santiago S
Neurocirugia (Astur : Engl Ed) 2022 Mar-Apr;33(2):53-60. Epub 2021 Jan 6 doi: 10.1016/j.neucie.2020.11.001. PMID: 35248299
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. doi: 10.1002/1097-0142(19830315)51:6<1028::aid-cncr2820510610>3.0.co;2-3. PMID: 6821867

Diagnosis

Cortes-Ciriano I, Steele CD, Piculell K, Al-Ibraheemi A, Eulo V, Bui MM, Chatzipli A, Dickson BC, Borcherding DC, Feber A, Galor A, Hart J, Jones KB, Jordan JT, Kim RH, Lindsay D, Miller C, Nishida Y, Proszek PZ, Serrano J, Sundby RT, Szymanski JJ, Ullrich NJ, Viskochil D, Wang X, Snuderl M, Park PJ, Flanagan AM, Hirbe AC, Pillay N, Miller DT; Genomics of MPNST (GeM) Consortium
Cancer Discov 2023 Mar 1;13(3):654-671. doi: 10.1158/2159-8290.CD-22-0786. PMID: 36598417Free PMC Article
Improta L, Tzanis D, Bouhadiba T, Abdelhafidh K, Bonvalot S
Eur J Surg Oncol 2020 Sep;46(9):1573-1579. Epub 2020 May 21 doi: 10.1016/j.ejso.2020.04.054. PMID: 32600897
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
Spira M, Riccardi V
Clin Plast Surg 1987 Apr;14(2):315-25. PMID: 3107867
Ducatman BS, Scheithauer BW
Cancer 1983 Mar 15;51(6):1028-33. doi: 10.1002/1097-0142(19830315)51:6<1028::aid-cncr2820510610>3.0.co;2-3. PMID: 6821867

Therapy

Kohlmeyer JL, Lingo JJ, Kaemmer CA, Scherer A, Warrier A, Voigt E, Raygoza Garay JA, McGivney GR, Brockman QR, Tang A, Calizo A, Pollard K, Zhang X, Hirbe AC, Pratilas CA, Leidinger M, Breheny P, Chimenti MS, Sieren JC, Monga V, Tanas MR, Meyerholz DK, Darbro BW, Dodd RD, Quelle DE
Clin Cancer Res 2023 Sep 1;29(17):3484-3497. doi: 10.1158/1078-0432.CCR-23-0749. PMID: 37410426Free PMC Article
Borcherding DC, Amin NV, He K, Zhang X, Lyu Y, Dehner C, Bhatia H, Gothra A, Daud L, Ruminski P, Pratilas CA, Pollard K, Sundby T, Widemann BC, Hirbe AC
Clin Cancer Res 2023 Apr 14;29(8):1592-1604. doi: 10.1158/1078-0432.CCR-22-3722. PMID: 36799629Free PMC Article
Ducatman BS, Scheithauer BW
Cancer 1983 Mar 15;51(6):1028-33. doi: 10.1002/1097-0142(19830315)51:6<1028::aid-cncr2820510610>3.0.co;2-3. PMID: 6821867
Storm FK, Eilber FR, Mirra J, Morton DL
Cancer 1980 Jan 1;45(1):126-9. doi: 10.1002/1097-0142(19800101)45:1<126::aid-cncr2820450122>3.0.co;2-u. PMID: 6766081
Parish C
Thorax 1971 Jul;26(4):392-5. doi: 10.1136/thx.26.4.392. PMID: 4327710Free PMC Article

Prognosis

Aimaier R, Chung MH, Gu Y, Yu Q, Wei C, Li H, Guo Z, Long M, Li Y, Wang W, Li Q, Wang Z
Cancer Gene Ther 2023 Oct;30(10):1390-1402. Epub 2023 Jul 24 doi: 10.1038/s41417-023-00645-8. PMID: 37488294
Larsson AT, Bhatia H, Calizo A, Pollard K, Zhang X, Conniff E, Tibbitts JF, Rono E, Cummins K, Osum SH, Williams KB, Crampton AL, Jubenville T, Schefer D, Yang K, Lyu Y, Pino JC, Bade J, Gross JM, Lisok A, Dehner CA, Chrisinger JSA, He K, Gosline SJC, Pratilas CA, Largaespada DA, Wood DK, Hirbe AC
Neuro Oncol 2023 Nov 2;25(11):2044-2057. doi: 10.1093/neuonc/noad097. PMID: 37246765Free PMC Article
Cortes-Ciriano I, Steele CD, Piculell K, Al-Ibraheemi A, Eulo V, Bui MM, Chatzipli A, Dickson BC, Borcherding DC, Feber A, Galor A, Hart J, Jones KB, Jordan JT, Kim RH, Lindsay D, Miller C, Nishida Y, Proszek PZ, Serrano J, Sundby RT, Szymanski JJ, Ullrich NJ, Viskochil D, Wang X, Snuderl M, Park PJ, Flanagan AM, Hirbe AC, Pillay N, Miller DT; Genomics of MPNST (GeM) Consortium
Cancer Discov 2023 Mar 1;13(3):654-671. doi: 10.1158/2159-8290.CD-22-0786. PMID: 36598417Free PMC Article
Somatilaka BN, Sadek A, McKay RM, Le LQ
Oncogene 2022 Apr;41(17):2405-2421. Epub 2022 Apr 7 doi: 10.1038/s41388-022-02290-1. PMID: 35393544Free PMC Article
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

Clinical prediction guides

Miettinen M, Abdullaev Z, Turakulov R, Quezado M, Luiña Contreras A, Curcio CA, Rys J, Chlopek M, Lasota J, Aldape KD
Am J Surg Pathol 2024 Jan 1;48(1):112-122. Epub 2023 Nov 3 doi: 10.1097/PAS.0000000000002138. PMID: 37921028Free PMC Article
Larsson AT, Bhatia H, Calizo A, Pollard K, Zhang X, Conniff E, Tibbitts JF, Rono E, Cummins K, Osum SH, Williams KB, Crampton AL, Jubenville T, Schefer D, Yang K, Lyu Y, Pino JC, Bade J, Gross JM, Lisok A, Dehner CA, Chrisinger JSA, He K, Gosline SJC, Pratilas CA, Largaespada DA, Wood DK, Hirbe AC
Neuro Oncol 2023 Nov 2;25(11):2044-2057. doi: 10.1093/neuonc/noad097. PMID: 37246765Free PMC Article
Cortes-Ciriano I, Steele CD, Piculell K, Al-Ibraheemi A, Eulo V, Bui MM, Chatzipli A, Dickson BC, Borcherding DC, Feber A, Galor A, Hart J, Jones KB, Jordan JT, Kim RH, Lindsay D, Miller C, Nishida Y, Proszek PZ, Serrano J, Sundby RT, Szymanski JJ, Ullrich NJ, Viskochil D, Wang X, Snuderl M, Park PJ, Flanagan AM, Hirbe AC, Pillay N, Miller DT; Genomics of MPNST (GeM) Consortium
Cancer Discov 2023 Mar 1;13(3):654-671. doi: 10.1158/2159-8290.CD-22-0786. PMID: 36598417Free PMC Article
Vander Salm TJ
Semin Thorac Cardiovasc Surg 2000 Apr;12(2):89-100. doi: 10.1053/ct.2000.5080. PMID: 10807431
Ducatman BS, Scheithauer BW
Cancer 1983 Mar 15;51(6):1028-33. doi: 10.1002/1097-0142(19830315)51:6<1028::aid-cncr2820510610>3.0.co;2-3. PMID: 6821867

Recent systematic reviews

Ghaith AK, Johnson SE, El-Hajj VG, Akinduro OO, Ghanem M, De Biase G, Michaelides L, Bon Nieves A, Marsh WR, Currier BL, Atkinson JL, Spinner RJ, Bydon M
J Neurosurg Spine 2024 Jan 1;40(1):28-37. Epub 2023 Oct 20 doi: 10.3171/2023.8.SPINE23427. PMID: 37862711
Schuch LF, Kirschnick LB, de Arruda JAA, Klein IP, Silveira FM, Vasconcelos ACU, Santos-Silva AR, Lopes MA, Carrard VC, Vargas PA, Martins MAT, Wagner VP, Martins MD
Oral Dis 2022 Nov;28(8):2072-2082. Epub 2021 Aug 12 doi: 10.1111/odi.13982. PMID: 34333825
Martin E, Geitenbeek RTJ, Coert JH, Hanff DF, Graven LH, Grünhagen DJ, Verhoef C, Taal W
Neuro Oncol 2021 Apr 12;23(4):557-571. doi: 10.1093/neuonc/noaa280. PMID: 33326583Free PMC Article
Cai Z, Tang X, Liang H, Yang R, Yan T, Guo W
World J Surg Oncol 2020 Sep 30;18(1):257. doi: 10.1186/s12957-020-02036-x. PMID: 32998743Free PMC Article
Carlson ML, Jacob JT, Habermann EB, Glasgow AE, Raghunathan A, Link MJ
J Neurosurg 2016 Nov;125(5):1120-1129. Epub 2016 Jan 8 doi: 10.3171/2015.7.JNS151056. PMID: 26745487

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