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Myofibromatosis, infantile, 2(IMF2)

MedGen UID:
815414
•Concept ID:
C3809084
•
Disease or Syndrome
Synonyms: IMF2; MYOFIBROMATOSIS, INFANTILE, 2
 
Gene (location): NOTCH3 (19p13.12)
 
Monarch Initiative: MONDO:0014122
OMIM®: 615293

Definition

Infantile myofibromatosis is a disorder of mesenchymal proliferation characterized by the development of benign tumors in the skin, muscle, bone, and viscera. Soft tissue lesions may regress spontaneously. Visceral lesions are associated with high morbidity and mortality (summary by Martignetti et al., 2013). For a discussion of genetic heterogeneity of infantile myofibromatosis, see IMF1 (228550). [from OMIM]

Clinical features

From HPO
Myofibromatosis
MedGen UID:
61649
•Concept ID:
C0206648
•
Neoplastic Process
A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Diverse presentation and tailored treatment of infantile myofibromatosis: A single-center experience.
Manisterski M, Benish M, Levin D, Shiran SI, Sher O, Gortzak Y, Elhasid R
Pediatr Blood Cancer 2021 Feb;68(2):e28769. Epub 2020 Oct 16 doi: 10.1002/pbc.28769. PMID: 33063933
Infantile fibrosarcoma: complete excision is the appropriate treatment.
Cofer BR, Vescio PJ, Wiener ES
Ann Surg Oncol 1996 Mar;3(2):159-61. doi: 10.1007/BF02305795. PMID: 8646516

Recent clinical studies

Etiology

Diverse presentation and tailored treatment of infantile myofibromatosis: A single-center experience.
Manisterski M, Benish M, Levin D, Shiran SI, Sher O, Gortzak Y, Elhasid R
Pediatr Blood Cancer 2021 Feb;68(2):e28769. Epub 2020 Oct 16 doi: 10.1002/pbc.28769. PMID: 33063933
Infantile myofibromatosis: review of imaging findings and emphasis on correlation between MRI and histopathological findings.
Naffaa L, Khalifeh I, Salman R, Itani M, Saab R, Al-Kutoubi A
Clin Imaging 2019 Mar-Apr;54:40-47. Epub 2018 Nov 8 doi: 10.1016/j.clinimag.2018.11.003. PMID: 30529421
Hypothesis: Possible role of retinoic acid therapy in patients with biallelic mismatch repair gene defects.
Gottschling S, Reinhard H, Pagenstecher C, Krüger S, Raedle J, Plotz G, Henn W, Buettner R, Meyer S, Graf N
Eur J Pediatr 2008 Feb;167(2):225-9. Epub 2007 Mar 27 doi: 10.1007/s00431-007-0474-3. PMID: 17387511
Solitary congenital fibromatosis (infantile myofibromatosis) of bone.
Inwards CY, Unni KK, Beabout JW, Shives TC
Am J Surg Pathol 1991 Oct;15(10):935-41. doi: 10.1097/00000478-199110000-00003. PMID: 1928549
Infantile myofibromatosis.
Parker RK, Mallory SB, Baker GF
Pediatr Dermatol 1991 Jun;8(2):129-32. doi: 10.1111/j.1525-1470.1991.tb00302.x. PMID: 1923981

Diagnosis

Late Relapse in Genetically Determined Infantile Myofibromatosis. A Case Report and Brief Focus on Recurrences.
Conte A, De Padova D, Giglio S, Livellara V, Manzitti C, De Marco P, Capra V, Sorrentino S
J Pediatr Hematol Oncol 2024 Oct 1;46(7):e528-e530. Epub 2024 Aug 14 doi: 10.1097/MPH.0000000000002942. PMID: 39141797
Diverse presentation and tailored treatment of infantile myofibromatosis: A single-center experience.
Manisterski M, Benish M, Levin D, Shiran SI, Sher O, Gortzak Y, Elhasid R
Pediatr Blood Cancer 2021 Feb;68(2):e28769. Epub 2020 Oct 16 doi: 10.1002/pbc.28769. PMID: 33063933
Infantile Myofibromatosis: 32 Patients and Review of Literature.
Zhao G, Zhu M, Qin C, Liu X, Zhao X
J Pediatr Hematol Oncol 2020 Nov;42(8):495-498. doi: 10.1097/MPH.0000000000001603. PMID: 31764512
Prenatal diagnosis of infantile myofibromatosis of the lung: a case report and review of the literature.
Yeniel AO, Ergenoglu AM, Zeybek B, Kazandi M, Akercan F, Ozcan C, Veral A
J Clin Ultrasound 2013 Nov-Dec;41 Suppl 1:38-41. Epub 2013 May 20 doi: 10.1002/jcu.22059. PMID: 23686518
Infantile myofibromatosis.
Chacko J, Ponnaiya J, Sen S, Zachariah N, Mammen KE
Indian Pediatr 1995 Feb;32(2):225-9. PMID: 8635786

Therapy

A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib.
Boulouadnine B, Filser M, Leducq C, Losole T, Bies J, Smetsers S, Kouwenberg D, de Lange I, Mensenkamp A, Kordes UR, Minard-Colin V, Orbach D, Brichard B, de Krijger R, Masliah-Planchon J, Demoulin JB
Genet Med 2025 Feb;27(2):101334. Epub 2024 Nov 21 doi: 10.1016/j.gim.2024.101334. PMID: 39580648
Diverse presentation and tailored treatment of infantile myofibromatosis: A single-center experience.
Manisterski M, Benish M, Levin D, Shiran SI, Sher O, Gortzak Y, Elhasid R
Pediatr Blood Cancer 2021 Feb;68(2):e28769. Epub 2020 Oct 16 doi: 10.1002/pbc.28769. PMID: 33063933
Effects of Sunitinib and Other Kinase Inhibitors on Cells Harboring a PDGFRB Mutation Associated with Infantile Myofibromatosis.
Sramek M, Neradil J, Macigova P, Mudry P, Polaskova K, Slaby O, Noskova H, Sterba J, Veselska R
Int J Mol Sci 2018 Sep 1;19(9) doi: 10.3390/ijms19092599. PMID: 30200486Free PMC Article
Stretched and sheared microcatheter retained after onyx embolization of infantile myofibromatosis.
Puri AS, Rahbar R, Dearden J, Graham RJ, Lillehei C, Orbach DB
Interv Neuroradiol 2011 Jun;17(2):261-6. Epub 2011 Jun 20 doi: 10.1177/159101991101700220. PMID: 21696669Free PMC Article
Hypothesis: Possible role of retinoic acid therapy in patients with biallelic mismatch repair gene defects.
Gottschling S, Reinhard H, Pagenstecher C, Krüger S, Raedle J, Plotz G, Henn W, Buettner R, Meyer S, Graf N
Eur J Pediatr 2008 Feb;167(2):225-9. Epub 2007 Mar 27 doi: 10.1007/s00431-007-0474-3. PMID: 17387511

Prognosis

Infantile Myofibromatosis: 32 Patients and Review of Literature.
Zhao G, Zhu M, Qin C, Liu X, Zhao X
J Pediatr Hematol Oncol 2020 Nov;42(8):495-498. doi: 10.1097/MPH.0000000000001603. PMID: 31764512
PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis.
Arts FA, Sciot R, Brichard B, Renard M, de Rocca Serra A, Dachy G, Noël LA, Velghe AI, Galant C, Debiec-Rychter M, Van Damme A, Vikkula M, Helaers R, Limaye N, Poirel HA, Demoulin JB
Hum Mol Genet 2017 May 15;26(10):1801-1810. doi: 10.1093/hmg/ddx081. PMID: 28334876
Congenital generalized infantile myofibromatosis and neonatal hemochromatosis. An autopsy case report.
Aksoy F, Göksel S, Ilvan S, Dervişoğlu S, Ramazanoğlu R
Turk J Pediatr 2000 Oct-Dec;42(4):334-7. PMID: 11196755
Periorbital infantile myofibromatosis.
Linder JS, Harris GJ, Segura AD
Arch Ophthalmol 1996 Feb;114(2):219-22. doi: 10.1001/archopht.1996.01100130213022. PMID: 8573030
Solitary congenital fibromatosis (infantile myofibromatosis) of bone.
Inwards CY, Unni KK, Beabout JW, Shives TC
Am J Surg Pathol 1991 Oct;15(10):935-41. doi: 10.1097/00000478-199110000-00003. PMID: 1928549

Clinical prediction guides

Late Relapse in Genetically Determined Infantile Myofibromatosis. A Case Report and Brief Focus on Recurrences.
Conte A, De Padova D, Giglio S, Livellara V, Manzitti C, De Marco P, Capra V, Sorrentino S
J Pediatr Hematol Oncol 2024 Oct 1;46(7):e528-e530. Epub 2024 Aug 14 doi: 10.1097/MPH.0000000000002942. PMID: 39141797
Infantile Myofibromatosis: 32 Patients and Review of Literature.
Zhao G, Zhu M, Qin C, Liu X, Zhao X
J Pediatr Hematol Oncol 2020 Nov;42(8):495-498. doi: 10.1097/MPH.0000000000001603. PMID: 31764512
Congenital generalized infantile myofibromatosis and neonatal hemochromatosis. An autopsy case report.
Aksoy F, Göksel S, Ilvan S, Dervişoğlu S, Ramazanoğlu R
Turk J Pediatr 2000 Oct-Dec;42(4):334-7. PMID: 11196755
Dermatofibrosarcoma protuberans is a unique fibrohistiocytic tumour expressing CD34.
Aiba S, Tabata N, Ishii H, Ootani H, Tagami H
Br J Dermatol 1992 Aug;127(2):79-84. doi: 10.1111/j.1365-2133.1992.tb08036.x. PMID: 1382538
Cutaneous myofibroma.
Smith KJ, Skelton HG, Barrett TL, Lupton GP, Graham JH
Mod Pathol 1989 Nov;2(6):603-9. PMID: 2587567

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      Related information in GTR
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      Clinical tests in GTR
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      OMIM records containing genes associated with phenotypes registered in MedGen
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