Recurring basal cell carcinoma involvingexclusively intra-oral mucosa: a case report

Basal cell carcinoma (BCC) is the most common skin cancer, but oral involvement is extremely rare. Here, we showed a case of a 71-year-old Caucasian male patient presenting an asymptomatic submucosal nodule in the left buccal mucosa on the same side of a previous BCC skin lesion. Intraoral examination revealed a circumscribed sessile and fibrous mass covered by normal mucosa. An incisional biopsy was performed. Microscopically, the lesion showed uniform, ovoid, dark-staining basaloid cells with medium-sized nuclei and little cytoplasm arranged in islands and strands, invading the underlying connective tissue. These islands demonstrated palisading of the peripheral cells and occasionally central areas with epidermoid differentiation. The final diagnosis was nodular basal cell carcinoma. Although uncommon, recurrent BCC may occur in the oral cavity. (AU)

Squamous cell carcinoma and basal cell carcinoma of the lips: 25 years of experience in a northeast Brazilian population.

BACKGROUND: The lips are the transition zone between the facial skin and the oral mucosa and are the site of alterations related to a broad spectrum of etiologies. Squamous cell carcinoma (SCC) and basal cell carcinoma (BCC) are the most prevalent neoplasms affecting lips. This study evaluated the demographic and clinicopathological features of the SCC and BCC in the lip. MATERIAL AND METHODS: A retrospective cross-sectional descriptive study (1994-2019) was carried out. Demographic and clinicopathologic data were collected from a hospital's dermatological service and an oncologic hospital. The data were submitted to descriptive analysis and Pearson's chi-square and Fisher's exact tests (p ≤ 0.05). RESULTS: 417 medical records were analyzed, of which 323 corresponded to SCC (77.5%) and 94 to BCC (22.5%). SCC showed more frequency in males (58.8%) and BCC in females (54.3%). The lower lip was significantly affected in male patients (p < 0.0001) and by both neoplasms (70.6% and 56.4%, respectively; p = 0.014). SCC and BCC were mainly treated with surgery (88.3% and 93.2%, respectively). Surgical margin was frequently negative in SCC and BCC (87%; 72.3%, respectively), and no recurrence was observed in 79.9% of SCC and 69.1% of BCC cases. CONCLUSIONS: SCC was more frequent in male patients, while BCC showed more frequency in female patients. Both neoplasms mainly affect the lower lip. Understanding the epidemiological profile of these lesions in the lip, as well as their etiology and clinical features, is fundamental for appropriate clinical conduct and the creation and/or amplification of preventive measures.

Presence of Merkel cell polyomavirus DNA and large-T antigen in keratinocyte carcinomas and its correlation with immunohistochemical markers p16, p53 and ki67.

BACKGROUND: Merkel cell polyomavirus (MCPyV), a human polyomavirus that is unequivocally linked to merkel cell carcinoma (MCC), has been found in association with keratinocytes carcinomas (KC), especially basal cell carcinoma (BCC) and cutaneous squamous cell carcinoma (cSCC). Nevertheless, there is scarce information about the possible involvement of MCPyV in the development of KC. OBJECTIVES: To assess the presence of MCPyV DNA and Large-T Antigen (LT-Ag) via Polymerase Chain Reaction (PCR) and Immunohistochemistry (IHC) in cases of KC, and to correlate its presence with immunohistochemical markers p16, p53, and ki67, tumor type and subtype, sun-exposed location, and epidemiological data. METHODS: The prevalence of MCPyV DNA, LT-Ag, and immunohistochemical markers p16, p53, and ki67 was assessed by PCR and Immunohistochemistry (IHC) in 127 cases of KC, these results were correlated with tumor type and subtype, sun-exposed location, and epidemiological data. RESULTS: The MCPyV DNA was detected in 42.57% (43 of 101) cases by PCR, the LT-Ag was detected in 16.4% (20 of 122) of cases, p16 in 81.5% (97 of 119), p53 in 66.4% (83 of 125), ki67 in 89% (73 of 82). No correlation between MCPyV LT-Ag and DNA confronted with tumor type, subtype, location site, and immunohistochemical markers was found. A single correlation between the MCPyV LT-Ag and cSCC tumors and peri-tumoral lymphocyte cells was noted. STUDY LIMITATIONS: Further steps need to be taken to better evaluate the MCPyV influence and its possible role in KC carcinogenesis, as the evaluation of the virus genome state, the gene sequence that encodes LT-Ag in the KC tumor cells, and in situ hybridization for viral DNA or RNA in these cells. CONCLUSIONS: Despite the frequent detection of MCPyV in KC, the data available so far does not support the hypothesis of a causal relationship between them.

Primary basal cell carcinoma of the caruncle: case report and review of the literature.

We present a rare case of primary caruncle basal cell carcinoma (BCC), a condition with limited occurrences. Our patient, an 80-year-old woman without prior ocular pathological history, presented a 2x2mm pedunculated blackish nodular lesion on the caruncle of her left eye, without local conjunctival or cutaneous involvement. Histological analysis following complete excision confirmed the presence of basal cell carcinoma within the caruncle. Over a span of 30 months, no recurrence has been observed. While scant cases are documented in the literature, we conducted a review of these instances. Despite its infrequent manifestation, this condition should be taken into account when evaluating caruncular tumors, given its tendency to invade the orbit. Complete excision with free surgical margins is the treatment of choice, and adjuvant radiotherapy or chemotherapy might be considered.

Long-term follow-up of patients with high-risk facial basal cell carcinoma treated with interferon.

BACKGROUND: Surgery is the treatment of choice for patients with basal cell carcinoma (BCC). When surgery is not a choice, only radiotherapy is recommended for patients with high-risk facial BCC. Interferon could be an acceptable therapeutic option for these patients. OBJECTIVE: To evaluate the long-term clinical response to interferon therapy in patients with high-risk facial BCC. METHODS: Patients with high-risk facial BCC were treated with perilesional injections of alpha-2b+ gamma interferons. Those with incomplete clinical response were reevaluated, their residual tumors excised, and declared cured. Patients treated with interferon and those treated with interferon plus surgery were followed for five years. Time to recurrence and the emergence of a new facial BCC were estimated by Kaplan-Meier survival analysis. Adverse events were documented. RESULTS: This study included 195 participants; 143 (73.3%) showed a complete response (95% CI 67.2‒80.1). Patients developed recurrence after a mean of 55 months (95% CI 53.8‒57.4). The estimated rate of recurrence was 12.3% (95% CI 7.4‒17.1). Patients developed a new BCC after a mean of 52.7 months (95% CI 50.4‒54.9). The estimated rate for development of a new BCC was 20.0% (95% CI 14.4‒25.9). Fifteen (7.7%) patients abandoned the study during follow-up. Adverse events were frequent but moderate or mild; fever and local pain were the most frequent. STUDY LIMITATIONS: Observational cohort design without a control group for comparison. CONCLUSIONS: Perilesional injections of alpha-2b+ gamma interferons in patients with facial high-risk BCC offer a satisfactory cure rate after five years of follow-up with an acceptable safety profile.

PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico.

BACKGROUND: Basal cell carcinoma (BCC) represents about 80% of all cases of skin cancer. The PTCH1 is a transmembrane protein of the Sonic Hedgehog signaling pathway that regulates cell proliferation. Genetic variants in PTCH1 gene have been previously described in association with BCC development. In addition, PTCH1 mRNA and protein expression analysis are also significant to understand its role in skin cancer physiopathology. METHODS: An analytical cross-sectional study was performed, and a total of 250 BCC patients and 290 subjects from the control group (CG) were included, all born in western Mexico. The genotypes and relative expression of the mRNA were determined by TaqMan® assay. The protein expression was investigated in 70 BCC paraffin-embedded samples with PTCH1 antibodies. Semi-quantitative analysis was performed to determine the expression level in the immunostained cells. RESULTS: We did not find evidence of an association between PTCH1 rs357564, rs2297086, rs2236405, and rs41313327 genetic variants and susceptibility to BCC. Likewise, no statistically significant differences were found in the comparison of the mRNA level expression between BCC and CG (p > 0.05). The PTCH1 protein showed a low expression in 6 of the analyzed samples and moderate expression in 1 sample. No association was found between genetic variants, protein expression, and demographic-clinical characteristics (p > 0.05). CONCLUSION: The studied PTCH1 variants may not be associated with BCC development in the Western Mexico population. The PTCH1 mRNA levels were lower in patients with BCC compared to the control group, but its protein was underexpressed in the tissue samples.

[Bazex syndrome: a rare paraneoplastic disease]. / Síndrome de Bazex: una enfermedad paraneoplásica infrecuente.

Bazex syndrome is a paraneoplastic disorder most commonly linked to squamous cell carcinomas of the upper aerodigestive tract, followed by lung cancer and other malignancies. It manifests through three stages of skin involvement that mirror the tumor's progression. Remarkably, skin lesions precede tumor symptoms or diagnosis in two-thirds of cases, underscoring the crucial role of suspecting this condition as it can promptly reveal an underlying neoplasm. Treatment primarily focuses on addressing the root neoplasm, with recurrent skin lesions potentially indicating tumor relapse. In this context, we present a clinical case involving a male patient whose manifestation of this syndrome facilitated the timely diagnosis of lung adenocarcinoma. This case underscores the significance of understanding this uncommon syndrome and its link to cancer, enabling early and accurate oncological diagnosis.

El síndrome de Bazex es una enfermedad paraneoplásica que se asocia con mayor frecuencia a carcinomas de células escamosas del tracto aerodigestivo superior, seguido en frecuencia por el cáncer de pulmón y otras neoplasias. Afecta a la piel en tres etapas que tienen un comportamiento paralelo al crecimiento del tumor. En dos tercios de los casos, las lesiones cutáneas preceden a los síntomas o al diagnóstico del tumor. De ahí la importancia de la sospecha de esta entidad, que puede desenmascarar a la neoplasia asociada en una etapa temprana. Su tratamiento consiste en tratar la neoplasia subyacente. La recurrencia de las lesiones cutáneas puede revelar la recaída del tumor. Comunicamos el caso clínico de un paciente de sexo masculino en el cual el hallazgo de este síndrome permitió realizar el diagnóstico de un adenocarcinoma de pulmón, lo cual destaca la importancia de conocer a esta rara enfermedad y su asociación con cáncer, para poder realizar el diagnóstico oncológico de forma temprana y oportuna.

Management of periocular keratinocyte carcinomas with Mohs micrographic surgery and predictors of complex reconstruction: a retrospective study.

BACKGROUND: Skin cancer is the most frequent cancer worldwide and the most frequent periocular tumor. Keratinocyte Carcinomas (KC) located in periorificial areas, such as periocular tumors, are considered high-risk tumors. Mohs Micrographic Surgery (MMS) is considered the first line for the treatment of high-risk KC, providing a lower recurrence rate than conventional wide excision. OBJECTIVE: To describe the clinical-pathological features of periocular KC treated with MMS in a tertiary university center in Chile. METHODS: A single-center, retrospective study of patients with KC located on the periocular area, that underwent MMS between 2017‒2022. MMS details were recorded. RESULTS: One hundred thirteen patients with periocular carcinomas were included. The mean age was 59 ± 13 years; 52% were women. The most frequent location was the medial canthus (53%), followed by the lower eyelid (30.1%). The most frequent BCC histology was the nodular variant (59.3%). Regarding MMS, the average number of stages was 1.5 ± 0.7, and 54% of the cases required only 1 stage to achieve clear margins. To date, no recurrence has been reported. Tumors larger than 8.5 mm in largest diameter or 43.5 mm2 were more likely to require complex reconstruction. STUDY LIMITATIONS: Retrospective design and a relatively low number of patients in the SCC group. Possible selection bias, as larger or more complex cases, may have been referred to oculoplastic surgeons directly. CONCLUSION: The present study confirms the role of MMS for the treatment of periocular KCs. Periocular KCs larger than 8.5 mm might require complex reconstruction. These results can be used to counsel patients during pre-surgical visits.

Efficacy of micrographic surgery versus conventional excision in reducing recurrence for basal cell carcinoma and squamous cell carcinoma: A systematic review and meta-analysis.

The standard of care for basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) involves excision by conventional surgery (CS) with a predefined safety margin of resection or micrographic surgery (MS) with microscopic margin control. Previous studies have reported the superiority of MS in reducing recurrences for high-risk BCC and SCC. This systematic review aimed to assess MS and CS recurrence rates by including randomized clinical trials (RCTs) and cohort studies. A systematic review and meta-analysis were conducted for related studies in PubMed, LILACS, Embase, Scopus, Web of Science, CINHAL and Cochrane until May 2023. RCTs and cohorts involving patients with BCC or SCC submitted to MS and CS were included. Risk of bias assessment followed Cochrane-recommended tools for RCTs and cohorts, and certainty of evidence followed the GRADE approach. Pooled estimates were used to determine the relative risk (RR) and absolute risk difference (RD) using a random-effects model. Seventeen studies were included, two RCTs and fifteen cohorts. There were 82 recurrences in 3050 tumours submitted to MS, with an overall recurrence rate of 3.1% (95% CI 2.0%-4.7%). For CS, there were 209 recurrences in 3453 tumours, with a recurrence rate of 5.3% (95% CI 2.9%-9.3%). The combined estimate of RR was 0.48 (95% CI 0.36-0.63), without heterogeneity nor evidence of publication bias (p > 0.3). The RD resulted in 2.9% (95% CI 1.0%-4.9%; NNT = 35). Regarding subgroup analysis, the RR for BBC was 0.37 (95% CI 0.25-0.54), and RD was 3.7% (95% CI 0.8%-6.5%; NNT = 28). For SCC, RR was 0.57 (95% CI 0.29-1.13), and RD was 1.9% (95% CI 0.8%-4.7%; NNT = 53). Among primary tumours, RR was 0.39 (95% CI 0.28-0.54), and for recurrent tumours was 0.67 (95% CI 0.30-1.50). There is moderate evidence based on two RCTs, and low evidence based on 15 cohort studies that MS is superior to CS in reducing recurrences of BCCs and primary tumours. The development of protocols that maximize the cost-effectiveness of each method in different clinical scenarios is paramount.

Antecedente de grado de expresividad de p53 en carcinomas basocelulares como predictor de recurrencia / Background of p53 expressivity grade in basal cell carcinomas as a predictor of recurrence

INTRODUCCIÓN. El gen Tp53 proporciona instrucciones para producir proteína tumoral 53. El Tp53 es un gen supresor tumoral que protege el ciclo celular, reparando el ADN o activando la apoptosis. Es clave en la carcinogénesis del carcinoma basocelular, patología que cobra relevancia en Ecuador, debido a su latitud y altitud, factores que determinan un mayor daño por exposición a radiación ultravioleta y por ende para carcinoma basocelular. Estudios sugieren que la inmunoexpresión de la proteína tumoral 53 podría ser un predictor de recurrencia en esta neoplasia. OBJETIVO. Determinar si el grado de expresividad de especies mutadas de proteína tumoral 53 en pacientes con carcinoma basocelular es una variable que tiene relación con la recurrencia y agresividad en los diferentes subtipos histológicos. MATERIALES Y MÉTODOS. Estudio de revisión bibliográfica de diferentes artículos científicos publicados en revistas indexadas y bases de datos durante los últimos diez años: ElSevier, Medigraphic, PubMed, Redalyc, ResearchGate, ScienceDirect, SpringerLink, Cochrane Database of Systematic Reviews. RESULTADOS. Se obtuvieron 104 resultados de los cuales se seleccionaron 50 artículos científicos que incluyeron revisiones sistemáticas, meta-análisis, artículos originales y reportes de casos en idiomas español e inglés. CONCLUSIÓN. Tp53 se encuentra mutado en más del 50% de carcinomas basocelulares y tiene un rol clave en su carcinogénesis. La inmunoexpresión aberrante de proteína tumoral 53 es un marcador de riesgo de recurrencia y agresividad en carcinoma basocelular, como lo indican los artículos revisados. Sin embargo, se requiere estudios locales que establezcan el verdadero valor de proteína tumoral 53 como marcador de recurrencia y/o agresividad en la población ecuatoriana.

INTRODUCTION. The Tp53 gene provides instructions to produce tumor protein 53. Tp53 is a tumor suppressor gene that protects the cell cycle, repairing DNA or activating apoptosis. It is key in the carcinogenesis of basal cell carcinoma, a pathology that is relevant in Ecuador, due to its latitude and altitude, factors that determine greater damage by exposure to ultraviolet radiation and therefore for basal cell carcinoma. Studies suggest that the immunoexpression of tumor protein 53 could be a predictor of recurrence in this neoplasm. OBJECTIVE. To determine whether the degree of expression of mutated species of tumor protein 53 in patients with basal cell carcinoma is a variable related to recurrence and aggressiveness in the different histologic subtypes. MATERIALS AND METHODS. Bibliographic review study of different scientific articles published in indexed journals and databases during the last ten years: El-Sevier, Medigraphic, PubMed, Redalyc, ResearchGate, ScienceDirect, SpringerLink, Cochrane Database of Systematic Reviews. RESULTS. A total of 104 results were obtained from which 50 scientific articles were selected, including systematic reviews, meta-analyses, original articles and case reports in Spanish and English. CONCLUSIONS. Tp53 is mutated in more than 50% of basal cell carcinomas and plays a key role in their carcinogenesis. Aberrant immunoexpression of tumor protein 53 is a risk marker for recurrence and aggressiveness in basal cell carcinoma, as indicated by the reviewed articles. However, local studies are required to establish the true value of tumor protein 53 as a marker of recurrence and/or aggressiveness in the Ecuadorian population.

HeberFERON en el tratamiento de pacientes con carcinoma basocelular en zona de alto riesgo / HeberFERON in the Treatment of Patients with Basal Cell Carcinoma on a High-Risk Zone

Introducción: El carcinoma basocelular es un tumor de invasión local de crecimiento; se origina en las células epidérmicas de los folículos pilosos o las células basales de la epidermis, cuando se localizan en zona de alto riesgo en la cara tienen un mayor índice de recurrencia tumoral y de invasión a estructuras adyacentes y subyacentes. Objetivo: Evaluar los resultados de la aplicación del HeberFERON en pacientes con carcinoma basocelular en zona de alto riesgo. Métodos: Se realizó un estudio observacional, descriptivo y prospectivo en pacientes con diagnóstico clínico, dermatoscópico e histopatológico de carcinoma basocelular en zona de alto riesgo, tratados con HeberFERON en la consulta del Policlínico Centro de Sancti Spíritus desde el 12 de enero de 2016 hasta el 25 de marzo de 2022. La muestra quedó conformada por 62 pacientes Las principales variables estudiadas fueron la respuesta al tratamiento y los eventos adversos. Resultados: Predominó el sexo masculino, el área urbana, fototipocutáneo III y la edad mayor de 40 años. La localización más frecuente fue la nasal; el subtipo clínico el nódulo ulcerativo; el histológico, el sólido; el tumor primitivo y menor de 2 cm; la respuesta al tratamiento fue completa en la mayoría de los pacientes. Los eventos adversos más comunes fueron dolor y ardor en el sitio de inyección, edema y eritema perilesional, fiebre y cefalea. Conclusiones: La mayoría de los pacientes tratados con HeberFERON tuvieron una respuesta completa, los eventos adversos fueron los descritos en la literatura por el uso de interferones, sin cambio en la actitud farmacológica(AU)

Introduction: Basal cell carcinoma is a growing and locally invasive tumor; it originates in the epidermal cells of hair follicles or the basal cells of the epidermis. When located in a high-risk facial zone, they present a higher rate of tumor recurrence and invasion to adjacent and underlying structures. Objective: To evaluate the results of HeberFERON application in patients with basal cell carcinoma on a high-risk zone. Methods: An observational, descriptive and prospective study was conducted in patients with a clinical, dermatoscopic and histopathological diagnosis of basal cell carcinoma on a high-risk zone, treated with HeberFERON in the consultation of Policlínico Centro of Sancti Spíritus, from January 12, 2016 to March 25, 2022. The sample was made up of 62 patients. The main variables studied were response to treatment and adverse events. Results: There was a predominance of the male sex, the urban area, skin phototype III and age over 40 years. The most frequent localization was nasal; the clinical subtype, ulcerative nodule; the histological subtype, solid. The response to treatment was complete in most patients. The most common adverse events were pain and burning at the injection site, perilesional erythema and edema, fever and headache. Conclusions: Most patients treated with HeberFERON had a complete response; the adverse events were those described in the literature due to the use of interferons, with no change in pharmacological behavior(AU)

HeberFERON en el tratamiento de pacientes con carcinoma basocelular de la oreja / HeberFERON in the treatment of patients with basal cell carcinoma of the ear

Fundamento: El carcinoma basocelular de la región auricular es considerado uno de los más agresivos y con peor pronóstico, suele ser destructivo y mutilante por lo que el tratamiento conservador, como es el uso de los interferones, es importante en la práctica médica habitual. Objetivo: Evaluar los resultados de la aplicación del HeberFERON en una serie de pacientes con carcinoma basocelular en la región auricular. Metodología: Se realizó un estudio observacional, descriptivo y longitudinal en una serie de casos con diagnóstico clínico, dermatoscópico e histopatológico de carcinoma basocelular de la oreja que recibieron tratamiento con HeberFERON en el Policlínico Centro de la ciudad Sancti Spíritus, durante el período del 20 de febrero de 2017 a 20 de diciembre de 2022. En total se incluyeron 29 pacientes. Se realizó una evaluación inicial, durante y 16 semanas después del tratamiento; se les inyectó 10.5 UI de HeberFERON 3 veces por semana perilesional e intradérmico hasta completar 9 dosis. Las variables fueron la respuesta al tratamiento y presencia o no de eventos adversos. Resultados: Predominó el sexo masculino, la localización en la concha de la oreja, subtipo clínico nódulo ulcerativo y el histológico sólido, con respuesta completa en la mayoría de los pacientes. Como eventos adversos más comunes se presentaron dolor en el sitio de inyección, fiebre, edema y eritema perilesional. Conclusiones: La respuesta al tratamiento fue favorable en la mayoría de los pacientes y los eventos adversos que se observaron fueron los descritos en la literatura sin cambio en la actitud farmacológica.

Background: Basal cell carcinoma of the auricular region is one of the most aggressive cancers and with the worst prognosis, is usually destructive and mutilating, therefore conservative treatment, such as the use of interferons, is important in routine medical practice. Objective: To evaluate the results of HeberFERON application in a series of patients with basal cell carcinoma in the auricular region. Methodology: An observational, descriptive and longitudinal study was conducted on a series of cases with clinical, dermoscopic and histopathologic diagnosis of basal cell carcinoma of the ear treated with HeberFERON at the Center Polyclinic in Sancti Spíritus city, during the period from February 20, 2017 through December 20, 2022. A total of 29 patients were included in the study. An evaluation was conducted at the start of treatment, during treatment, and 16 weeks after treatment; the patients were treated with 10.5 IU of HeberFERON by perilesional and intradermal injections three times a week until completing nine doses. The variables were the response to the treatment and the presence or absence of any adverse events. Results: The male sex predominated, location in the ear turbinate, clinical subtype ulcerative nodule and solid histologic subtype, with a complete response in the majority of patients. The most common adverse events were injection site pain, fever, edema, and perilesional erythema. Conclusions: The response to treatment was favorable in most patients, and the adverse events observed were those described in the literature, with no change in pharmacologic attitude.