The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence

Murray, Natalia; Hanna, Bernadette; Graf, Nicole; Fu, He; Mylène, Veronneau; Campeau, Philippe M.; Ronan, Anne

doi:10.1016/j.ejmg.2017.02.005

Cited by 27 publications

(28 citation statements)

References 16 publications

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“…These genetic alterations were detected not only in the soft tissue tumors, but also in the intra-osseous lesions (Table 1). 16,19,[28][29][30] Herein, we did not detect such mutations in any of the 15 odontogenic myxoma samples evaluated, suggesting that these PDGFRB mutations do not play a role in its tumorigenesis.…”

Section: Discussionmentioning

confidence: 67%

“…Agaimy et al reported PDGFRB somatic mutations as molecular driver events in the majority of sporadic infantile and adult solitary myofibromas (75% and 69%, respectively). These genetic alterations were detected not only in the soft tissue tumors, but also in the intra‐osseous lesions (Table ) . Herein, we did not detect such mutations in any of the 15 odontogenic myxoma samples evaluated, suggesting that these PDGFRB mutations do not play a role in its tumorigenesis.…”

Section: Discussionmentioning

confidence: 72%

“…As myxoid areas can be observed in myofibroma, and odontogenic myxoma cells might show myofibroblastic differentiation, 3,4 we raised the hypothesis that they could share the same underlining molecular profile. There is no unequivocal evidence that the odontogenic myxoma is indeed odontogenic, and TA B L E 1 Main findings of previous studies that reported the association of PDGFRB mutation and myofibromas in the English written literature Cheung et al, 34 Martignetti et al, 13 Linhares et al, 35 Arts et al, 16a Murray et al a , 29 Dachy et al 19a when myofibroma occurs in the jaws it affects the posterior region of the mandible, similar to odontogenic myxoma. Considering PDGFRB mutations have recently been reported in myofibroma and the fact that this gene was not included in the NGS panel of somatic mutations previously interrogated in odontogenic myxomas, we aimed to search for these genetic alterations in odontogenic myxoma.…”

Section: Discussionmentioning

confidence: 99%

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Odontogenic myxomas lack PDGFRB mutations reported in myofibromas

Siqueira

Sousa

Carlos³

et al. 2020

J Oral Pathology Medicine

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Background The molecular pathogenesis of odontogenic myxoma has not been established yet. Considering that odontogenic myxoma may show myofibroblastic differentiation and myxoid areas can be observed in intra‐osseous myofibromas, we tested the hypothesis whether both tumors share a common molecular profile. As recent studies have reported PDGFRB recurrent driver mutations in myofibroma, we evaluated PDGFRB mutations in odontogenic myxomas. Methods A convenience sample of 15 odontogenic myxomas cases was selected. We direct sequenced PDGFRB exons 12 and 14, where p.R561C (c.1681C>T) and p.N666K (c.1998C>G) hotspot mutations have been reported among others in single and/or multiple myofibromas. Results All 15 odontogenic myxoma samples were successfully sequenced, and all 15 had wild‐type sequences for the PDGFRB mutations investigated. Conclusion Our findings suggest that PDGFRB mutations do not play a role in odontogenic myxoma pathogenesis, which might be helpful in the differential diagnosis of challenging cases.

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Section: Discussionmentioning

confidence: 67%

Section: Discussionmentioning

confidence: 72%

Section: Discussionmentioning

confidence: 99%

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Odontogenic myxomas lack PDGFRB mutations reported in myofibromas

Siqueira

Sousa

Carlos³

et al. 2020

J Oral Pathology Medicine

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“…The pathophysiological mechanisms underlying late IM recurrence remain unknown. Recently, Murray et al [12] reported the story of a 24-year-old woman, with PDGFRB mutation, who experienced late recurrences during her pregnancy (such as a lesion of the lower lip and a myofibroma histologically confirmed a few months later) after classical multicentric IM in infancy (skin, subcutaneous, bone and pancreatic masses) with spontaneous regression. Hormonal influence has been suggested by the authors to have led to the recurrence.…”

Section: Discussionmentioning

confidence: 99%

A rare case of neonatal-onset infantile myofibromatosis with metastatic recurrence in adulthood

Merlin¹,

Rouzic²,

Vignaud³

et al. 2018

Arch Clin Cases

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Infantile myofibromatosis (IM) is a rare mesenchymal disorder, typically observed during infancy and characterized by the development of myofibroblastic tumors within skin, muscle, bone or viscera. In most cases, spontaneous regression of the lesions occurs before the age of four, however therapeutic tools such as surgery and chemotherapy sometimes need to be implemented. Metastatic recurrence of this condition is very rare. We report the case of a newborn infant with multicentric IM involving the skin, intestinal tract and bone, who required long-term symptomatic treatment. Spontaneous regression was noticed at the age of four but twenty years later she presented with a complete spontaneous right pneumothorax revealing cystic pulmonary metastases of IM. There have been very few reports of metastatic recurrence of IM in adulthood and this unique presentation underlines the need for long-term follow-up of these patients to detect and prevent possible complications.

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“…The molecular pathogenesis of IM is not completely understood. Familial forms exhibiting autosomal dominant and recessive transmission have been reported over the past two decades [ 10 ]. In 2013, several point mutations in the platelet-derived growth factor receptor beta (PDGFR-beta) gene ( PDGFRB ) were identified to be associated with familial IM.…”

Section: Introductionmentioning

confidence: 99%

Effects of Sunitinib and Other Kinase Inhibitors on Cells Harboring a PDGFRB Mutation Associated with Infantile Myofibromatosis

Šrámek

Neradil

Macigova

et al. 2018

IJMS

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Infantile myofibromatosis represents one of the most common proliferative fibrous tumors of infancy and childhood. More effective treatment is needed for drug-resistant patients, and targeted therapy using specific protein kinase inhibitors could be a promising strategy. To date, several studies have confirmed a connection between the p.R561C mutation in gene encoding platelet-derived growth factor receptor beta (PDGFR-beta) and the development of infantile myofibromatosis. This study aimed to analyze the phosphorylation of important kinases in the NSTS-47 cell line derived from a tumor of a boy with infantile myofibromatosis who harbored the p.R561C mutation in PDGFR-beta. The second aim of this study was to investigate the effects of selected protein kinase inhibitors on cell signaling and the proliferative activity of NSTS-47 cells. We confirmed that this tumor cell line showed very high phosphorylation levels of PDGFR-beta, extracellular signal-regulated kinases (ERK) 1/2 and several other protein kinases. We also observed that PDGFR-beta phosphorylation in tumor cells is reduced by the receptor tyrosine kinase inhibitor sunitinib. In contrast, MAPK/ERK kinases (MEK) 1/2 and ERK1/2 kinases remained constitutively phosphorylated after treatment with sunitinib and other relevant protein kinase inhibitors. Our study showed that sunitinib is a very promising agent that affects the proliferation of tumor cells with a p.R561C mutation in PDGFR-beta.

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The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence

Cited by 27 publications

References 16 publications

Odontogenic myxomas lack PDGFRB mutations reported in myofibromas

Odontogenic myxomas lack PDGFRB mutations reported in myofibromas

A rare case of neonatal-onset infantile myofibromatosis with metastatic recurrence in adulthood

Effects of Sunitinib and Other Kinase Inhibitors on Cells Harboring a PDGFRB Mutation Associated with Infantile Myofibromatosis

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