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Genetic Predisposition to Myofibromatosis

MedGen UID:
1792157
•Concept ID:
C5555716
•
Finding

Definition

An inherited condition caused by mutation(s) in the NOTCH3 or PDGFRB genes, encoding neurogenic locus notch homolog protein 3 and platelet-derived growth factor receptor beta, respectively. The condition is characterized by an increased risk of developing myofibroma. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGenetic Predisposition to Myofibromatosis

Professional guidelines

PubMed

Proportion of children with cancer that have an indication for genetic counseling and testing based on the cancer type irrespective of other features.
Nguyen TMK, Behnert A, Pietsch T, Vokuhl C, Kratz CP
Fam Cancer 2021 Oct;20(4):273-277. Epub 2021 Feb 26 doi: 10.1007/s10689-021-00234-4. PMID: 33634344Free PMC Article

Recent clinical studies

Etiology

Novel Aspects of Genetics, Molecular Biology and Clinical Oncology of Sarcomas.
Houfková K, Hatina J
Klin Onkol 2020 Winter;33(1):66-78. doi: 10.14735/amko202066. PMID: 32075391
Infantile myofibromatosis: report on a family with autosomal dominant inheritance and variable penetrance.
Kulkarni K, Desai S, Grundy P, Sergi C
J Pediatr Surg 2012 Dec;47(12):2312-5. doi: 10.1016/j.jpedsurg.2012.09.046. PMID: 23217896

Diagnosis

Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums.
Muthusamy K, El-Jabali A, Ongie LJ, Dhamija R, Babovic-Vuksanovic D
Am J Med Genet A 2022 Mar;188(3):911-918. Epub 2021 Nov 19 doi: 10.1002/ajmg.a.62575. PMID: 34797032
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).
Chenbhanich J, Hu Y, Hetts S, Cooke D, Dowd C, Devine P; UCLA Clinical Genomics Center, Russell B, Kang SHL, Chang VY, Abla AA, Cornett P, Yeh I, Lee H, Martinez-Agosto JA, Frieden IJ, Shieh JT
Am J Med Genet A 2021 May;185(5):1430-1436. Epub 2021 Mar 8 doi: 10.1002/ajmg.a.62126. PMID: 33683022
Proportion of children with cancer that have an indication for genetic counseling and testing based on the cancer type irrespective of other features.
Nguyen TMK, Behnert A, Pietsch T, Vokuhl C, Kratz CP
Fam Cancer 2021 Oct;20(4):273-277. Epub 2021 Feb 26 doi: 10.1007/s10689-021-00234-4. PMID: 33634344Free PMC Article
Paediatric and adult soft tissue sarcomas with NTRK1 gene fusions: a subset of spindle cell sarcomas unified by a prominent myopericytic/haemangiopericytic pattern.
Haller F, Knopf J, Ackermann A, Bieg M, Kleinheinz K, Schlesner M, Moskalev EA, Will R, Satir AA, Abdelmagid IE, Giedl J, Carbon R, Rompel O, Hartmann A, Wiemann S, Metzler M, Agaimy A
J Pathol 2016 Apr;238(5):700-10. doi: 10.1002/path.4701. PMID: 26863915
Myofibroma of the tongue: a case suggesting autosomal dominant inheritance.
Tajima N, Shiraishi T, Ohba S, Fujita S, Asahina I
Oral Surg Oral Med Oral Pathol Oral Radiol 2014 Feb;117(2):e92-6. Epub 2013 Jul 10 doi: 10.1016/j.oooo.2013.05.010. PMID: 23850370

Therapy

Proportion of children with cancer that have an indication for genetic counseling and testing based on the cancer type irrespective of other features.
Nguyen TMK, Behnert A, Pietsch T, Vokuhl C, Kratz CP
Fam Cancer 2021 Oct;20(4):273-277. Epub 2021 Feb 26 doi: 10.1007/s10689-021-00234-4. PMID: 33634344Free PMC Article
PDGRFB mutation-associated myofibromatosis: Response to targeted therapy with imatinib.
Weller JM, Keil VC, Gielen GH, Herrlinger U, Schäfer N
Am J Med Genet A 2019 Sep;179(9):1895-1897. Epub 2019 Jul 10 doi: 10.1002/ajmg.a.61283. PMID: 31291054
A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.
Bredrup C, Stokowy T, McGaughran J, Lee S, Sapkota D, Cristea I, Xu L, Tveit KS, Høvding G, Steen VM, Rødahl E, Bruland O, Houge G
Eur J Hum Genet 2019 Apr;27(4):574-581. Epub 2018 Dec 20 doi: 10.1038/s41431-018-0323-z. PMID: 30573803Free PMC Article
Infantile myofibromatosis: report on a family with autosomal dominant inheritance and variable penetrance.
Kulkarni K, Desai S, Grundy P, Sergi C
J Pediatr Surg 2012 Dec;47(12):2312-5. doi: 10.1016/j.jpedsurg.2012.09.046. PMID: 23217896

Prognosis

Novel Aspects of Genetics, Molecular Biology and Clinical Oncology of Sarcomas.
Houfková K, Hatina J
Klin Onkol 2020 Winter;33(1):66-78. doi: 10.14735/amko202066. PMID: 32075391
Infantile myofibromatosis: report on a family with autosomal dominant inheritance and variable penetrance.
Kulkarni K, Desai S, Grundy P, Sergi C
J Pediatr Surg 2012 Dec;47(12):2312-5. doi: 10.1016/j.jpedsurg.2012.09.046. PMID: 23217896

Clinical prediction guides

Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).
Chenbhanich J, Hu Y, Hetts S, Cooke D, Dowd C, Devine P; UCLA Clinical Genomics Center, Russell B, Kang SHL, Chang VY, Abla AA, Cornett P, Yeh I, Lee H, Martinez-Agosto JA, Frieden IJ, Shieh JT
Am J Med Genet A 2021 May;185(5):1430-1436. Epub 2021 Mar 8 doi: 10.1002/ajmg.a.62126. PMID: 33683022
A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.
Bredrup C, Stokowy T, McGaughran J, Lee S, Sapkota D, Cristea I, Xu L, Tveit KS, Høvding G, Steen VM, Rødahl E, Bruland O, Houge G
Eur J Hum Genet 2019 Apr;27(4):574-581. Epub 2018 Dec 20 doi: 10.1038/s41431-018-0323-z. PMID: 30573803Free PMC Article

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