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Congenital fibrosarcoma

MedGen UID:
87246
•Concept ID:
C0334459
•
Neoplastic Process
Synonym: Infantile fibrosarcoma
SNOMED CT: Infantile fibrosarcoma (403996004)
 
Monarch Initiative: MONDO:0004557

Definition

A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Congenital fibrosarcoma

Professional guidelines

PubMed

Differential diagnostic features between congenital haemangioma, KHE, and congenital fibrosarcoma: a single-centre experience.
AbouZeid AA, Mohammad SA, Aly NH, Elghandour MM, AbdelLatif M, Elsayed SM, El-Naggar O, Attia EAS, Ragab IA
Eur J Pediatr 2021 Aug;180(8):2581-2589. Epub 2021 May 19 doi: 10.1007/s00431-021-04119-7. PMID: 34009469
Neonatal congenital lung tumors - the importance of mid-second-trimester ultrasound as a diagnostic clue.
Waelti SL, Garel L, Soglio DD, Rypens F, Messerli M, Dubois J
Pediatr Radiol 2017 Dec;47(13):1766-1775. Epub 2017 Sep 7 doi: 10.1007/s00247-017-3953-3. PMID: 28884206
Practical application of molecular genetic testing as an aid to the surgical pathologic diagnosis of sarcomas: a prospective study.
Hill DA, O'Sullivan MJ, Zhu X, Vollmer RT, Humphrey PA, Dehner LP, Pfeifer JD
Am J Surg Pathol 2002 Aug;26(8):965-77. doi: 10.1097/00000478-200208000-00001. PMID: 12170083

Recent clinical studies

Etiology

Differential diagnostic features between congenital haemangioma, KHE, and congenital fibrosarcoma: a single-centre experience.
AbouZeid AA, Mohammad SA, Aly NH, Elghandour MM, AbdelLatif M, Elsayed SM, El-Naggar O, Attia EAS, Ragab IA
Eur J Pediatr 2021 Aug;180(8):2581-2589. Epub 2021 May 19 doi: 10.1007/s00431-021-04119-7. PMID: 34009469
A giant congenital fibrosarcoma of the leg.
Ertürk C, Yarmpapuç R, Altay MA, Büyükbebeci O, Ozsaraç MC
J Pediatr Orthop B 2010 Jul;19(4):348-52. doi: 10.1097/BPB.0b013e32833831fc. PMID: 20442675
The role of cytogenetics in the classification of soft tissue tumours.
Dei Tos AP, Dal Cin P
Virchows Arch 1997 Aug;431(2):83-94. doi: 10.1007/s004280050073. PMID: 9293889
Congenital fibrosarcoma.
Blocker S, Koenig J, Ternberg J
J Pediatr Surg 1987 Jul;22(7):665-70. doi: 10.1016/s0022-3468(87)80123-9. PMID: 3612464
Congenital fibrosarcoma.
Balsaver AM, Butler JJ, Martin RG
Cancer 1967 Oct;20(10):1607-16. doi: 10.1002/1097-0142(196710)20:10<1607::aid-cncr2820201007>3.0.co;2-#. PMID: 6058170

Diagnosis

Fetal Mediastinal Fibrosarcoma. Report of Two Cases.
Cagan M, Yildirim S, Turkmen GG, Ozyuncu O, Akcoren Z, Deren O, Gucer S
Fetal Pediatr Pathol 2022 Oct;41(5):843-851. Epub 2021 Oct 8 doi: 10.1080/15513815.2021.1988010. PMID: 34622726
Differential diagnostic features between congenital haemangioma, KHE, and congenital fibrosarcoma: a single-centre experience.
AbouZeid AA, Mohammad SA, Aly NH, Elghandour MM, AbdelLatif M, Elsayed SM, El-Naggar O, Attia EAS, Ragab IA
Eur J Pediatr 2021 Aug;180(8):2581-2589. Epub 2021 May 19 doi: 10.1007/s00431-021-04119-7. PMID: 34009469
The role of cytogenetics in the classification of soft tissue tumours.
Dei Tos AP, Dal Cin P
Virchows Arch 1997 Aug;431(2):83-94. doi: 10.1007/s004280050073. PMID: 9293889
Are infantile myofibromatosis, congenital fibrosarcoma and congenital haemangiopericytoma histogenetically related?
Variend S, Bax NM, van Gorp J
Histopathology 1995 Jan;26(1):57-62. doi: 10.1111/j.1365-2559.1995.tb00621.x. PMID: 7713484
Congenital fibrosarcoma.
Blocker S, Koenig J, Ternberg J
J Pediatr Surg 1987 Jul;22(7):665-70. doi: 10.1016/s0022-3468(87)80123-9. PMID: 3612464

Therapy

Congenital intestinal fibrosarcoma with rapid recurrence requiring adjuvant chemotherapy.
See WSQ, Cheuk DKL, To KF, Ip PP, Chiang AKS, Ha SY, Chan GCF
Pediatr Int 2017 Jun;59(6):733-736. Epub 2017 Apr 24 doi: 10.1111/ped.13252. PMID: 28436622
ETV6-NTRK3 as a therapeutic target of small molecule inhibitor PKC412.
Chi HT, Ly BT, Kano Y, Tojo A, Watanabe T, Sato Y
Biochem Biophys Res Commun 2012 Dec 7;429(1-2):87-92. Epub 2012 Nov 3 doi: 10.1016/j.bbrc.2012.10.087. PMID: 23131561
Congenital fibrosarcoma and history of prenatal exposure to petroleum derivatives.
Ortega-García JA, Soldin OP, López-Hernández FA, Trasande L, Ferrís-Tortajada J
Pediatrics 2012 Oct;130(4):e1019-25. Epub 2012 Sep 3 doi: 10.1542/peds.2011-1307. PMID: 22945410Free PMC Article
Characterization of a newly identified ETV6-NTRK3 fusion transcript in acute myeloid leukemia.
Kralik JM, Kranewitter W, Boesmueller H, Marschon R, Tschurtschenthaler G, Rumpold H, Wiesinger K, Erdel M, Petzer AL, Webersinke G
Diagn Pathol 2011 Mar 15;6:19. doi: 10.1186/1746-1596-6-19. PMID: 21401966Free PMC Article
Signal transduction pathways in sarcoma as targets for therapeutic intervention.
Tuveson DA, Fletcher JA
Curr Opin Oncol 2001 Jul;13(4):249-55. doi: 10.1097/00001622-200107000-00007. PMID: 11429482

Prognosis

Differential diagnostic features between congenital haemangioma, KHE, and congenital fibrosarcoma: a single-centre experience.
AbouZeid AA, Mohammad SA, Aly NH, Elghandour MM, AbdelLatif M, Elsayed SM, El-Naggar O, Attia EAS, Ragab IA
Eur J Pediatr 2021 Aug;180(8):2581-2589. Epub 2021 May 19 doi: 10.1007/s00431-021-04119-7. PMID: 34009469
Fetal presentation of congenital fibrosarcoma of the meninges: case report and literature review.
Marguet F, Bergogne L, Laurent N, Rousseau T, Laquerrière A
Clin Neuropathol 2015 Mar-Apr;34(2):70-5. doi: 10.5414/NP300811. PMID: 25492889
Combined prenatal ultrasound and magnetic resonance imaging in an extensive congenital fibrosarcoma: a case report and review of the literature.
Huang SY, Wang CW, Wang CJ, Chao A, Chao AS
Fetal Diagn Ther 2005 Jul-Aug;20(4):266-71. doi: 10.1159/000085083. PMID: 15980638
Congenital fibrosarcoma.
Blocker S, Koenig J, Ternberg J
J Pediatr Surg 1987 Jul;22(7):665-70. doi: 10.1016/s0022-3468(87)80123-9. PMID: 3612464
Congenital fibrosarcoma.
Balsaver AM, Butler JJ, Martin RG
Cancer 1967 Oct;20(10):1607-16. doi: 10.1002/1097-0142(196710)20:10<1607::aid-cncr2820201007>3.0.co;2-#. PMID: 6058170

Clinical prediction guides

Pan-Trk Immunohistochemistry Is an Efficient and Reliable Screen for the Detection of NTRK Fusions.
Hechtman JF, Benayed R, Hyman DM, Drilon A, Zehir A, Frosina D, Arcila ME, Dogan S, Klimstra DS, Ladanyi M, Jungbluth AA
Am J Surg Pathol 2017 Nov;41(11):1547-1551. doi: 10.1097/PAS.0000000000000911. PMID: 28719467Free PMC Article
Cellular mesoblastic nephroma: morphologic, cytogenetic and molecular links with congenital fibrosarcoma.
Henno S, Loeuillet L, Henry C, D'Hervé D, Azzis O, Ferrer J, Poulain P, Babut JM, Merlio JP, Jouan H, Dubus P
Pathol Res Pract 2003;199(1):35-40. doi: 10.1078/0344-0338-00350. PMID: 12650516
The detection of Tel-TrkC chimeric transcripts is more specific than TrkC immunoreactivity for the diagnosis of congenital fibrosarcoma.
Dubus P, Coindre JM, Groppi A, Jouan H, Ferrer J, Cohen C, Rivel J, Copin MC, Leroy JP, de Muret A, Merlio JP
J Pathol 2001 Jan;193(1):88-94. doi: 10.1002/1096-9896(2000)9999:9999<::AID-PATH724>3.0.CO;2-S. PMID: 11169520
The role of cytogenetics in the classification of soft tissue tumours.
Dei Tos AP, Dal Cin P
Virchows Arch 1997 Aug;431(2):83-94. doi: 10.1007/s004280050073. PMID: 9293889
Ultrastructural, immunocytochemical, and cytogenetic characterization of a large congenital fibrosarcoma.
Argyle JC, Tomlinson GE, Stewart D, Schneider NR
Arch Pathol Lab Med 1992 Sep;116(9):972-5. PMID: 1524466

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