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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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

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
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
Mashiah J, Hadj-Rabia S, Dompmartin A, Harroche A, Laloum-Grynberg E, Wolter M, Amoric JC, Hamel-Teillac D, Guero S, Fraitag S, Bodemer C
J Am Acad Dermatol 2014 Aug;71(2):264-70. Epub 2014 Jun 2 doi: 10.1016/j.jaad.2014.03.035. PMID: 24894456
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

Hassan M, Butler E, Wilson R, Roy A, Zheng Y, Liem P, Rakheja D, Pavlick D, Young LL, Rosenzweig M, Erlich R, Ali SM, Leavey PJ, Parsons DW, Skapek SX, Laetsch TW
Cold Spring Harb Mol Case Stud 2019 Oct;5(5) Epub 2019 Oct 23 doi: 10.1101/mcs.a004440. PMID: 31645346Free PMC Article
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
Kiyohara T, Maruta N, Iino S, Ido H, Tokuriki A, Hasegawa M
J Dermatol 2016 Sep;43(9):1088-91. Epub 2016 Apr 14 doi: 10.1111/1346-8138.13400. PMID: 27074874
Mashiah J, Hadj-Rabia S, Dompmartin A, Harroche A, Laloum-Grynberg E, Wolter M, Amoric JC, Hamel-Teillac D, Guero S, Fraitag S, Bodemer C
J Am Acad Dermatol 2014 Aug;71(2):264-70. Epub 2014 Jun 2 doi: 10.1016/j.jaad.2014.03.035. PMID: 24894456
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

Therapy

Hassan M, Butler E, Wilson R, Roy A, Zheng Y, Liem P, Rakheja D, Pavlick D, Young LL, Rosenzweig M, Erlich R, Ali SM, Leavey PJ, Parsons DW, Skapek SX, Laetsch TW
Cold Spring Harb Mol Case Stud 2019 Oct;5(5) Epub 2019 Oct 23 doi: 10.1101/mcs.a004440. PMID: 31645346Free 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
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
Wu SY, McCavit TL, Cederberg K, Galindo RL, Leavey PJ
J Pediatr Hematol Oncol 2015 Jul;37(5):402-5. doi: 10.1097/MPH.0000000000000132. PMID: 24608078

Prognosis

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
Mashiah J, Hadj-Rabia S, Dompmartin A, Harroche A, Laloum-Grynberg E, Wolter M, Amoric JC, Hamel-Teillac D, Guero S, Fraitag S, Bodemer C
J Am Acad Dermatol 2014 Aug;71(2):264-70. Epub 2014 Jun 2 doi: 10.1016/j.jaad.2014.03.035. PMID: 24894456

Clinical prediction guides

Kwon DR, Kim Y
Medicine (Baltimore) 2021 Dec 30;100(52):e28466. doi: 10.1097/MD.0000000000028466. PMID: 34967390Free PMC Article
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
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
Mashiah J, Hadj-Rabia S, Dompmartin A, Harroche A, Laloum-Grynberg E, Wolter M, Amoric JC, Hamel-Teillac D, Guero S, Fraitag S, Bodemer C
J Am Acad Dermatol 2014 Aug;71(2):264-70. Epub 2014 Jun 2 doi: 10.1016/j.jaad.2014.03.035. PMID: 24894456

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