Scarring in Patients With <i>PIK3CA</i>-Related Overgrowth Syndromes

Steiner, Jack E.; Cottrell, Catherine E.; Streicher, Jenna L.; Jensen, John; King, David M.; Burrows, Patricia E.; Siegel, Dawn H.; Tollefson, Megha M.; Drolet, Beth A.; Püttgen, Katherine B.

doi:10.1001/jamadermatol.2017.6189

Cited by 15 publications

(14 citation statements)

References 14 publications

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“…According to the KEGG enrichment analysis, the PIK3CA, FOXO, MAPK and AMPK pathway was among the top signaling pathways. These pathways have all been reported as key signaling pathways in the activation of fibrosis, which supports the present results ( 23-25 , 15 , 39 , 40 ).…”

Section: Discussionsupporting

confidence: 92%

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Integrative analysis of miRNA‑mRNA expression profiles in esophageal fibrosis after ESD

Zhang

2021

Exp Ther Med

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The incidence of esophageal fibrosis and benign esophageal stricture (BES) has increased in recent years due to the curative therapy for early-stage esophageal carcinoma, including partial esophagectomy and esophageal endoscopic submucosal dissection (ESD). The aim of the present study was to identify key genes and associated pathways of esophageal fibrosis after the ESD procedure. During the esophageal ESD procedure, the esophageal tissue in the remaining submucosal layer, referred to as normal esophageal (NE) tissue, was collected, and 1 week thereafter, post-operative esophageal (PE) tissue was obtained. High-throughput sequencing was used to identify dysregulated microRNAs (miRNAs/miRs) between NE and PE tissues. According to the differentially expressed (DE) miRNAs, putative target genes were predicted. Gene Ontology, Kyoto Encyclopedia of Genes and Genomes enrichment analysis and DEmiRNA interaction network analysis were performed. Reverse transcription-quantitative PCR (RT-qPCR) was performed to validate the RNA-sequencing results. A total of 199 miRNAs were determined to be DE between NE and PE tissues. Compared with the expression in the NE group, 83 miRNAs were significantly upregulated, while 116 miRNAs were significantly downregulated. According to these DE miRNAs, forkhead box O1 (FOXO1), paired box 6 (PAX6), phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) and adrenoceptor β1 (ADRB1) were DE genes regulated by five DE miRNAs,. The results suggested that certain pathways were markedly dysregulated, including FOXO, MAPK, AMP-activated protein kinase and signaling pathways regulating the pluripotency of stem cells and proteoglycans in cancer. According to the RT-qPCR results, the expression levels of FOXO1, PAX6, ADRB1, were consistent with the integrated analysis. In conclusion, FOXO1, PAX6, PIK3CA and ADRB1 may have a role in esophageal fibrosis, regulated by miR-223-3p, miR-142-5p, miR-582-5p, miR-21-3p and miR-218-5p. The present results provided an improved understanding of the changes in the microenvironment during the process of esophageal fibrosis, as well as novel potential targets for the treatment of esophageal fibrosis and BES.

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Section: Discussionsupporting

confidence: 92%

“…Steiner et al ( 23 ) indicated that PIK3CA mutation leads to abnormal scarring involving the PI3K-Akt-mTOR pathway. Yang et al ( 24 ) reported that PIK3CA regulated myocardial fibrosis and oxidative stress via the PI3K/Akt signaling pathway.…”

Section: Discussionmentioning

confidence: 99%

Integrative analysis of miRNA‑mRNA expression profiles in esophageal fibrosis after ESD

Zhang

2021

Exp Ther Med

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“…[192021] However, excessive scarring after surgery in these individuals remains a concern. [22] This syndrome can also be detected during the prenatal period from the presence of truncal mass and other body and acral anomalies and mosaic PIK3CA mutation in cultured amniocytes. [23] Overall, the nonprogressive distorting nature of CLOVES syndrome can be explained while counseling the parents.…”

Section: Discussionmentioning

confidence: 99%

Cloves syndrome: A rare disorder of overgrowth with unusual features – An uncommon phenotype?

Mahajan¹,

Gupta²,

Chauhan³

et al. 2019

Indian Dermatol Online J

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CLOVES syndrome characterized by C ongenital L ipomatous O vergrowth, V ascular malformations, E pidermal nevi, and S keletal anomalies is a recently described sporadic syndrome from postzygotic activating mutations in PIK3CA . This 3-year-old boy, born to nonconsanguineous and healthy parents, had epidermal verrucous nevus, lower limb length discrepancy and bilateral genuvalgum, anterior abdominal wall lipomatous mass, central beaking of L2 and L3, and fibrous dysplasia of the left frontal bone. Ocular and dental abnormalities (ptosis, esotropia, delayed canine eruption, dental hypoplasia), ipsilateral asymmetrical deformity of skull, and large left cerebral hemisphere with mild ipsilateral ventriculomegaly were peculiar to him denoting an uncommon phenotype. The parents did not consent for magnetic resonance imaging and genetic studies because of financial constraints. The CLOVES syndrome has emerged as an uncommon yet distinct clinical entity with some phenotypic variations. Its diagnosis is usually from cutaneous, truncal, spinal, and foot anomalies in clinical and radioimaging studies. Proteus syndrome remains the major differential.

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“…Most importantly, however, the family must understand that, as surgeons, our abilities are limited and we cannot make the fingers ‘normal’ in function, appearance or motion. Unattractive scarring is common (Steiner et al., 2018; Tolerton and Tonkin, 2011). Possible procedures are: correction of angulation, shortening, epiphysiodesis to stop longitudinal growth, debulking, nerve decompression, re-contouring of fingertips and ablation.…”

Section: Methods Of Treatmentmentioning

confidence: 99%

Macrodactyly: decision-making and surgery timing

Ezaki

Beckwith

Oishi

2018

J Hand Surg Eur Vol

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Macrodactyly is a rare condition in which fingers, hands or limb growth is unregulated, resulting in overgrowth of tissues in the affected extremities. It is critical to properly assess these extremities for signalling pathway, psychological impact and potential surgical intervention, to achieve the best possible outcome for each patient. Treatment approaches can vary, and patient and family expectations weigh heavily on care complexity. Common surgical procedures may include epiphysiodeses, osteotomies, debulking procedures, carpal tunnel releases, toe transfers and amputations. The selection and timing of these surgeries is a vital component of the approach, as delayed healing and excessive scarring may occur. The purpose of this review is to assist in the navigation of decision-making and surgical timing for patients presenting with overgrowth manifesting itself as macrodactyly.

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Scarring in Patients With PIK3CA-Related Overgrowth Syndromes

Cited by 15 publications

References 14 publications

Integrative analysis of miRNA‑mRNA expression profiles in esophageal fibrosis after ESD

Integrative analysis of miRNA‑mRNA expression profiles in esophageal fibrosis after ESD

Cloves syndrome: A rare disorder of overgrowth with unusual features – An uncommon phenotype?

Macrodactyly: decision-making and surgery timing

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