Cancerization of cutaneous flap reconstruction for oral squamous cell carcinoma: report of three cases studied with the mtDNA D‐loop sequence analysis

Abstract

Foschini M P, Morandi L, Marchetti C, Cocchi R, Eusebi L H, Farnedi A, Badiali G, Gissi D B, Pennesi M G & Montebugnoli L (2011) Histopathology58, 361–367 Cancerization of cutaneous flap reconstruction for oral squamous cell carcinoma: report of three cases studied with the mtDNA D‐loop sequence analysis Aims: Tissue defects, resulting from surgical resection of oral squamous cell carcinoma (OSCC), are reconstructed routinely with skin grafts. OSCC arising from the grafted skin has been described; however, it is still unclear whether primary and second tumours have a common clonal origin. The aim of this study was to evaluate the clonal relationship between the primary OSCC and secondary neoplastic changes appearing in the skin graft in three patients, by screening the mitochondrial DNA D‐loop region (mtDNA). Methods and results: In all three cases, the neoplastic lesions arising in the skin graft showed a clonal relationship with the previous OSCC and, on the basis of the results obtained by mtDNA analysis, could be considered to be a recurrence of the primary OSCC rather than a second primary OSCC. Conclusions: Starting from a field of genetically altered cells in the oral mucosa, the spread of the clonal cell population to the cutaneous flap might be stimulated by cytokines produced by the grafted skin. More studies are needed to evaluate the molecular relationship between primary and second OSCC to identify patients at higher risk of developing a second tumour in the skin graft.

Genetic relationship between multiple squamous cell carcinomas arising in the oral cavity

“…The technique's reliability in oral oncology was confirmed by several studies showing the high frequency of mtDNA mutations in head and neck tumors . Furthermore, mtDNA sequence analysis has been applied in 3 cases of OSCC arising on the cutaneous flap used to fill the surgical defect and disclosed a clonal relationship with the previous OSCC in all 3 cases …”

“…In addition, we recently used mtDNA analysis to evaluate the clonal relationship between primary OSCC and squamous carcinoma arising on the cutaneous flap reconstruction …”

Mitochondrial DNA genotyping efficiently reveals clonality of synchronous endometrial and ovarian cancers

“…8 Detection of a random somatic mitochondrial DNA mutation in both endometrial and ovarian cancers of the same patient may be considered as a marker of clonality of the two lesions, as it is virtually impossible that the same tumor-specific mutation may arise in two independent neoplasms. 9 In this work, we tested mitochondrial genome sequencing as an approach to distinguish synchronous vs metastatic ovarian/endometrial cancer showing the informative nature and efficacy of this method.…”

Clonality analysis in primary oral squamous cell carcinoma and related lymph-node metastasis revealed by TP53 and mitochondrial DNA next generation sequencing analysis

“…We have recently introduced, in oncology, mt-DNA (D-loop) sequence analysis followed by NJ tree as a molecular method to assess clonality (Foschini et al, 2011;Montebugnoli et al, 2014;Tarsitano et al, 2014). Assessment of the clonal relation between 2 neoplastic lesions by mtDNA analysis (Morandi et al, 2005) is based on the concept that mt-DNA extraction from paraffinembedded tissues is more effective than use of nuclear genomic DNA, taking advantage of the high copy number of mt-DNA in each cell (10 3 e10 4 ).…”

“…Recently, mitochondrial DNA (mt-DNA) sequence analysis followed by neighbor-joining tree was introduced in head-and-neck oncology as a method for establishing the clonal relationship between 2 lesions or between a tumor and the loco-regional metastasis (Foschini et al, 2011;Montebugnoli et al, 2014). More recently, a case report described clonal relationship between primary OSCC and a LNM appeared 4 years later by using mt-DNA analysis (Tarsitano et al, 2014).…”