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Myofibromatosis, infantile, 1(IMF1)

MedGen UID:
1632352
Concept ID:
C4551572
Disease or Syndrome
Synonym: Myofibromatosis, juvenile
 
Gene (location): PDGFRB (5q32)
 
Monarch Initiative: MONDO:0009227
OMIM®: 228550

Definition

A rare inherited form of myofibromatosis caused by autosomal dominant mutation(s) in the PDGFRB gene, encoding platelet-derived growth factor receptor beta. The condition is characterized by the onset of solitary or multicentric benign tumors in the skin, striated muscles, bones, and viscera. The lesions may be present at birth or become apparent in early infancy or even occasionally in adult life. [from NCI]

Clinical features

From HPO
Fibroma
MedGen UID:
42016
Concept ID:
C0016045
Neoplastic Process
Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Pekar-Zlotin M, Levinsohn-Tavor O, Livneh A, Sher O, Melcer Y, Maymon R
Obstet Gynecol Surv 2019 Oct;74(10):607-610. doi: 10.1097/OGX.0000000000000717. PMID: 31670833

Recent clinical studies

Etiology

Kwon DR, Kim Y
Medicine (Baltimore) 2021 Dec 30;100(52):e28466. doi: 10.1097/MD.0000000000028466. PMID: 34967390Free PMC Article
Al-Jazaeri A, Al-Zahem A, Al-Maziad H, Kfouri H, Al-Boukai A, Al-Sultan A
J Pediatr Surg 2010 Sep;45(9):1896-9. doi: 10.1016/j.jpedsurg.2010.05.027. PMID: 20850641
Cessna MH, Zhou H, Sanger WG, Perkins SL, Tripp S, Pickering D, Daines C, Coffin CM
Mod Pathol 2002 Sep;15(9):931-8. doi: 10.1097/01.MP.0000026615.04130.1F. PMID: 12218210

Diagnosis

Lü Y, Jiang Y, Wu H, Qi Q, Zhou X, Guo Q, Hao N, Liu J, Meng H
BMC Med Genomics 2023 Aug 11;16(1):185. doi: 10.1186/s12920-023-01612-w. PMID: 37568122Free PMC Article
Szeto MD, Maymone MB, Kim LS, Bodmer J, Treece AL, Diaz-Miron JL
Dermatol Online J 2021 Nov 15;27(11) doi: 10.5070/D3271156092. PMID: 35130404
Pekar-Zlotin M, Levinsohn-Tavor O, Livneh A, Sher O, Melcer Y, Maymon R
Obstet Gynecol Surv 2019 Oct;74(10):607-610. doi: 10.1097/OGX.0000000000000717. PMID: 31670833
Ochi H, Puhaindran ME, Tan KW
Int J Dermatol 2019 Jan;58(1):91-92. Epub 2018 Nov 8 doi: 10.1111/ijd.14276. PMID: 30411332
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

Therapy

Gehle S, Quinsey C, McShane D, Thompson P, Quezada G
J Pediatr Hematol Oncol 2023 Oct 1;45(7):e921-e923. Epub 2023 Jul 13 doi: 10.1097/MPH.0000000000002717. PMID: 37526359
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
Pond D, Arts FA, Mendelsohn NJ, Demoulin JB, Scharer G, Messinger Y
Genet Med 2018 Jan;20(1):142-150. Epub 2017 Jul 20 doi: 10.1038/gim.2017.104. PMID: 28726812
Mudry P, Slaby O, Neradil J, Soukalova J, Melicharkova K, Rohleder O, Jezova M, Seehofnerova A, Michu E, Veselska R, Sterba J
BMC Cancer 2017 Feb 10;17(1):119. doi: 10.1186/s12885-017-3115-x. PMID: 28183292Free PMC Article

Prognosis

Gehle S, Quinsey C, McShane D, Thompson P, Quezada G
J Pediatr Hematol Oncol 2023 Oct 1;45(7):e921-e923. Epub 2023 Jul 13 doi: 10.1097/MPH.0000000000002717. PMID: 37526359
Szeto MD, Maymone MB, Kim LS, Bodmer J, Treece AL, Diaz-Miron JL
Dermatol Online J 2021 Nov 15;27(11) doi: 10.5070/D3271156092. PMID: 35130404
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
Mudry P, Slaby O, Neradil J, Soukalova J, Melicharkova K, Rohleder O, Jezova M, Seehofnerova A, Michu E, Veselska R, Sterba J
BMC Cancer 2017 Feb 10;17(1):119. doi: 10.1186/s12885-017-3115-x. PMID: 28183292Free PMC Article
Linhares ND, Freire MC, Cardenas RG, Pena HB, Bahia M, Pena SD
Eur J Med Genet 2014 Nov-Dec;57(11-12):643-8. Epub 2014 Sep 18 doi: 10.1016/j.ejmg.2014.08.010. PMID: 25241110

Clinical prediction guides

Gehle S, Quinsey C, McShane D, Thompson P, Quezada G
J Pediatr Hematol Oncol 2023 Oct 1;45(7):e921-e923. Epub 2023 Jul 13 doi: 10.1097/MPH.0000000000002717. PMID: 37526359
Szeto MD, Maymone MB, Kim LS, Bodmer J, Treece AL, Diaz-Miron JL
Dermatol Online J 2021 Nov 15;27(11) doi: 10.5070/D3271156092. PMID: 35130404
Kwon DR, Kim Y
Medicine (Baltimore) 2021 Dec 30;100(52):e28466. doi: 10.1097/MD.0000000000028466. PMID: 34967390Free PMC Article
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
Mudry P, Slaby O, Neradil J, Soukalova J, Melicharkova K, Rohleder O, Jezova M, Seehofnerova A, Michu E, Veselska R, Sterba J
BMC Cancer 2017 Feb 10;17(1):119. doi: 10.1186/s12885-017-3115-x. PMID: 28183292Free PMC Article

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