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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

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
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
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

Kaçar A, Paker I, Orhan D, Poyraz A, Okçu Heper A, Arda N, Boduroğlu E
Turk Patoloji Derg 2012;28(1):24-30. doi: 10.5146/tjpath.2012.01093. PMID: 22207428
Larralde M, Hoffner MV, Boggio P, Abad ME, Luna PC, Correa N
Pediatr Dermatol 2010 Jan-Feb;27(1):29-33. doi: 10.1111/j.1525-1470.2009.01073.x. PMID: 20199406
Hausbrandt PA, Leithner A, Beham A, Bodo K, Raith J, Windhager R
J Pediatr Orthop B 2010 Jan;19(1):122-6. doi: 10.1097/BPB.0b013e32832e4756. PMID: 19738495
Gengler C, Guillou L
Histopathology 2006 Jan;48(1):63-74. doi: 10.1111/j.1365-2559.2005.02290.x. PMID: 16359538
Chung EB, Enzinger FM
Cancer 1981 Oct 15;48(8):1807-18. doi: 10.1002/1097-0142(19811015)48:8<1807::aid-cncr2820480818>3.0.co;2-g. PMID: 7284977

Diagnosis

Saikaly SK, Schoch JJ, Motaparthi K, Shenoy A, Knapik JA, Bender NR
Pediatr Dermatol 2021 Jan;38(1):249-252. Epub 2020 Nov 21 doi: 10.1111/pde.14456. PMID: 33222239
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
MacIntosh PW, Grob SR, Stagner AM, Kazlas MA, Jakobiec FA, Yoon MK, Lee NG
J AAPOS 2016 Feb;20(1):70-3. doi: 10.1016/j.jaapos.2015.08.013. PMID: 26917077
Larralde M, Hoffner MV, Boggio P, Abad ME, Luna PC, Correa N
Pediatr Dermatol 2010 Jan-Feb;27(1):29-33. doi: 10.1111/j.1525-1470.2009.01073.x. PMID: 20199406
Koujok K, Ruiz RE, Hernandez RJ
Pediatr Radiol 2005 Apr;35(4):374-80. Epub 2004 Nov 19 doi: 10.1007/s00247-004-1357-7. PMID: 15558270

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
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
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
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

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
Larralde M, Hoffner MV, Boggio P, Abad ME, Luna PC, Correa N
Pediatr Dermatol 2010 Jan-Feb;27(1):29-33. doi: 10.1111/j.1525-1470.2009.01073.x. PMID: 20199406
Hausbrandt PA, Leithner A, Beham A, Bodo K, Raith J, Windhager R
J Pediatr Orthop B 2010 Jan;19(1):122-6. doi: 10.1097/BPB.0b013e32832e4756. PMID: 19738495
Ang P, Tay YK, Walford NQ
Cutis 2004 Apr;73(4):229-31. PMID: 15134320
Chung EB, Enzinger FM
Cancer 1981 Oct 15;48(8):1807-18. doi: 10.1002/1097-0142(19811015)48:8<1807::aid-cncr2820480818>3.0.co;2-g. PMID: 7284977

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
Iwamura R, Komatsu K, Kusano M, Kubo C, Inaba Y, Shiba E, Nawata A, Tajiri R, Matsuyama A, Matoba H, Koga K, Takeda M, Itami H, Hisaoka M
Mod Pathol 2023 Mar;36(3):100070. Epub 2023 Jan 10 doi: 10.1016/j.modpat.2022.100070. PMID: 36788105
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
Larralde M, Hoffner MV, Boggio P, Abad ME, Luna PC, Correa N
Pediatr Dermatol 2010 Jan-Feb;27(1):29-33. doi: 10.1111/j.1525-1470.2009.01073.x. PMID: 20199406
Aksoy F, Göksel S, Ilvan S, Dervişoğlu S, Ramazanoğlu R
Turk J Pediatr 2000 Oct-Dec;42(4):334-7. PMID: 11196755

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