Importance of sonography of the skin and subcutaneous tissue in the early diagnosis of melanoma in-transit metastasis with the presentation of two cases

Czarnecka, Anna; Czarnecki, Roman; Witkiewicz, Wojciech; Hryncewicz-Gwóźdź, Anita

doi:10.5114/ada.2018.75244

Cited by 4 publications

(10 citation statements)

References 33 publications

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“…Since Hamada first identified the ECM1 gene in 2002, a total of 56 distinct pathogenic mutations have been reported, and nearly 50% of the mutations occur in exons 6 and 7 of the gene. [6] Only three mutations have been described either in the first 2 exons or in the first intron of ECM1 . [6] A missense mutation in the first exon of ECM1 , p. Val10Gly, was previously discovered in a Polish family with splicing mutation IVS1+1G>A.…”

Section: Discussionmentioning

confidence: 99%

“…[6] Only three mutations have been described either in the first 2 exons or in the first intron of ECM1 . [6] A missense mutation in the first exon of ECM1 , p. Val10Gly, was previously discovered in a Polish family with splicing mutation IVS1+1G>A. Another mutation at the same locus, IVS1+1G>C, was documented in a large family of Arabian origin in Israel with relatively severe skin involvement.…”

Section: Discussionmentioning

confidence: 99%

“…In addition to the mutations detected in different exons and introns, a mutation has been reported to cause changes in the signal peptide sequence of ECM1 . [68]…”

Section: Discussionmentioning

confidence: 99%

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Extracellular matrix protein 1 gene mutation in turkish patients with lipoid proteinosis

Dertlioğlu¹,

Edgünlü²,

Şen³

et al. 2019

Indian J Dermatol

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Background:Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by mucocutaneous lesions and hoarseness of voice that develop in early childhood. LP is caused by mutation in the extracellular matrix protein 1 (ECM1) gene, which is located on 1q21.2.Aims:This study aimed to present the profile of ECM1 gene mutations and to identify possible novel mutations specific to Turkey.Materials and Methods:The ECM1 gene mutations of 19 LP patients from five families were evaluated using DNA isolated from peripheral blood samples. All ten exons in the ECM1 gene region were amplified by polymerase chain reaction (PCR). The PCR products were analyzed using a DNA sequencing analyzer. The results of DNA sequencing were analyzed with bioinformatics methods.Results:of the 19 LP patients evaluated in our study, we detected defects in exon 6 (c.507delT, 658T>G), exon 9 (157C>T, 727C>T), and exon 10 (c.93_94delGCinsTT) of the ECM1 gene.Conclusions:Our results indicate that defects in exons 6, 9, and 10 of the ECM1 gene were responsible for LP in our country. The identification of these pathogenic mutations is valuable because it facilitates early diagnosis and genetic counseling.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Extracellular matrix protein 1 gene mutation in turkish patients with lipoid proteinosis

Dertlioğlu¹,

Edgünlü²,

Şen³

et al. 2019

Indian J Dermatol

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“…58 Currently, the two most sensitive assays available are high-frequency ultrasound sonography and advanced PET techniques, which can detect micrometastases as small as 3-5 mm in diameter. 58,69 Melanoma ITM are principally located within lymphatic vessels in the lower dermis to upper subcutis as semi-contiguous chains, with deeper penetration occurring once the nodal basin is reached. 3,11,50,58,65,68,70 These new techniques are mostly employed for cancer re-staging and have been reported to change treatment in up to 75% of cases.…”

Section: Early Detection Of Micrometastasesmentioning

confidence: 99%

The role of micrometastasis in high‐risk skin cancers

Sinclair,

Wong,

Shumack

et al. 2023

Aust J Dermatology

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The propensity to metastasize is the most important prognostic indicator for solid cancers. New insights into the mechanisms of early carcinogenesis have revealed micrometastases are generated far earlier than previously thought. Evidence supports a synergistic relationship between vascular and lymphatic seeding which can occur before there is clinical evidence of a primary tumour. Early vascular seeding prepares distal sites for colonisation while regional lymphatics are co‐opted to promote facilitative cancer cell mutations. In response, the host mounts a global inflammatory and immunomodulatory response towards these cells supporting the concept that cancer is a systemic disease. Cancer staging systems should be refined to better reflect cancer cell loads in various tissue compartments while clinical perspectives should be broadened to encompass this view when approaching high‐risk cancers. Measured adjunctive therapies implemented earlier for low‐volume, in‐transit cancer offers the prospect of preventing advanced disease and the need for heroic therapeutic interventions. This review seeks to re‐appraise how we view the metastatic process for solid cancers. It will explore in‐transit metastasis in the context of high‐risk skin cancer and how it dictates disease progression. It will also discuss how these implications will influence our current staging systems and its consequences on management.

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“…Melanomas are malignant tumors prone to early metastasis [ 1 , 2 ]. According to the latest studies, nearly half of patients with melanoma will experience metastases to the central nervous system (CNS) [ 3 ].…”

mentioning

confidence: 99%

Intramedullary spinal cord metastasis from malignant melanoma: a case report of a central nervous system secondary lesion occurred 15 years after the primary skin lesion resection

Śniegocki

Nowacka

Smuczyński

et al. 2018

pdia

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Importance of sonography of the skin and subcutaneous tissue in the early diagnosis of melanoma in-transit metastasis with the presentation of two cases

Cited by 4 publications

References 33 publications

Extracellular matrix protein 1 gene mutation in turkish patients with lipoid proteinosis

Extracellular matrix protein 1 gene mutation in turkish patients with lipoid proteinosis

The role of micrometastasis in high‐risk skin cancers

Intramedullary spinal cord metastasis from malignant melanoma: a case report of a central nervous system secondary lesion occurred 15 years after the primary skin lesion resection

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