RESUMEN
BACKGROUND: Basosquamous carcinoma (BSC) is a rare and aggressive nonmelanoma skin cancer (NMSC) that exhibits features of both BCC and squamous cell carcinoma (SCC). The gold standard for diagnosis is histopathological examination. BSC is often challenging to diagnose and manage due to its mixed histological features and potential for aggressive behavior AIM: To identify specific features aiding clinicians in differentiating BSCs using non-invasive diagnostic techniques. METHODS: We conducted a retrospective descriptive, monocentric study of the epidemiological clinical, dermoscopic, and reflectance confocal microscopy (RCM) features of histopathologically proven BSCs diagnosed between 2010 and 2023. A total of 192 cases were selected. RESULTS: The study population consisted of 17 men (60.9%). Total 95.8% of patients at the time of diagnosis were ≥50 years. BSC occurred in the head and neck area in 124 cases (63.1%) of which 65 (33.9%) were in the H-zone. For 47.4% of patients, BSC presented as a macule with undefined clinical margins (43.3%). Dermoscopic images were available for 98 cases: the most common parameter was the presence of whitish structureless areas (59 [60.2%]), keratin masses (58 [59.2%]), superficial scales, and ulceration or blood crusts (49 [50%] both). Vessels pattern analysis revealed hairpin vessels (exclusively) and linear irregular vessels as the most frequent (55 [56.1%] both). RCM examination was performed in 21 cases which revealed specific SCC features such as solar elastosis (19 [90.5%]), atypical honeycomb pattern (17 [89%]), proliferation of atypical keratinocytes (16 [80%]) combined with BCC' ones as bright tumor islands (12 [57.8%]), and cleft-like dark spaces (11 [53.4%]). DISCUSSION: Our study reflects the largest cohort of BSCs from a single institution. We described an incidence rate of 4.7%, higher than reported in the Literature, with the involvement of patients ≥50years in almost 96% of cases and an overall male predominance. At clinical examination, BSC was described as a hyperkeratotic macule with undefined clinical margins with one or more dermoscopic SCC' features, whereas the presence of typical BCC aspects was observed in less than 10% of cases, differently from what was previously reported. At RCM analysis, BSCs presented with an atypical honeycomb pattern with proliferation of atypical keratinocytes, hyperkeratosis, and in nearly 55% of patients, bright tumor islands with cleft-like dark spaces. CONCLUSION: The distinctive dermoscopic patterns, along with the RCM features aid in the differentiation of BSCs from other NMSCs.
Asunto(s)
Carcinoma Basoescamoso , Dermoscopía , Microscopía Confocal , Neoplasias Cutáneas , Humanos , Masculino , Neoplasias Cutáneas/diagnóstico por imagen , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/epidemiología , Dermoscopía/métodos , Persona de Mediana Edad , Femenino , Carcinoma Basoescamoso/patología , Carcinoma Basoescamoso/diagnóstico por imagen , Carcinoma Basoescamoso/epidemiología , Estudios Retrospectivos , Anciano , Microscopía Confocal/métodos , Anciano de 80 o más Años , AdultoRESUMEN
Basosquamous carcinoma (BSC), an uncommon and aggressive nonmelanoma skin cancer exhibiting characteristics ranging from basal cell carcinoma (BCC) to squamous cell carcinoma (SCC), is a subject of controversy in terms of its classification, pathogenesis, histologic morphology, biologic behavior, prognosis, and management. This narrative review is based on an electronic search of English-language articles in PubMed that included the terms "basosquamous carcinoma" and/or "metatypical carcinoma of the skin" in their titles. The review aims to succinctly present and assess current data on the epidemiology, clinical presentation, dermoscopic, LC-OCT, and histopathologic characteristics, as well as the genetics and management of BSC, providing insight into this intriguing entity. As a conclusion, dermoscopy, deep incisional biopsies, and immunohistologic techniques should be applied in clinically suspicious lesions to achieve an early diagnosis and better prognosis of this tumor. Surgical treatments, including wide excision and Mohs' micrographic surgery, remain the treatment of choice. Finally, Hedgehog pathway inhibitors and checkpoint inhibitors, must be thoroughly investigated with large controlled trials, since they may offer an alternative solution to irresectable or difficult-to-treat locally advanced cases of basosquamous carcinoma.
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Carcinoma Basocelular , Carcinoma Basoescamoso , Carcinoma de Células Escamosas , Neoplasias Cutáneas , Humanos , Carcinoma Basoescamoso/terapia , Carcinoma Basoescamoso/diagnóstico , Carcinoma Basoescamoso/patología , Proteínas Hedgehog , Neoplasias Cutáneas/patología , Carcinoma Basocelular/patología , Carcinoma de Células Escamosas/patologíaRESUMEN
Basaloid squamous cell carcinoma (BSCC) is a rare variant of conventional squamous cell carcinoma (SCC) frequently affecting the upper aerodigestive tract. The hypopharynx, tonsil, supraglottic larynx, tongue (base), and head-neck regions are particularly susceptible to BSCC. Clinically, the presentation of BSCC and conventional SCC is similar, but BSCC has a poorer prognosis. BSCC is distinguished histopathologically by a dimorphic pattern, a distinctive basal cell component paired with a squamous component. However, its similar features to conventional SCC makes it difficult to diagnose. Therefore, histopathology and immunohistochemistry play a crucial role in diagnosing such tumors. Here we present the case of a 70-year-old male diagnosed with BSCC involving the tongue.
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Carcinoma Basoescamoso , Carcinoma de Células Escamosas , Masculino , Humanos , Anciano , Carcinoma Basoescamoso/patología , Carcinoma de Células Escamosas/diagnóstico , Inmunohistoquímica , LenguaRESUMEN
Basosquamous carcinoma (BSC) is a relatively rare type of neoplasm originating from basal cell carcinoma with features of squamous differentiation. BSC has an aggressive local behaviour with a tendency for recurrence and a less frequent metastatic potential The primary objective was to describe the dermatoscopic features of the tumour. Secondary goals were to detect the morphological features of the tumour along with patients' characteristics and to evaluate possible dermatoscopic and histopathological correlations Twenty-two patients with 25 BSCs were enrolled. All tumours were surgically excised and diagnosis was based on histopathology. Clinical and dermatoscopic images were evaluated by two investigators based on pre-defined criteria, and a statistical analysis was performed The median age of the patients was 78 years old (range: 52-88) and the male/female ratio was 2.14. All patients reported history of either occupational (50%) or recreational (50%) intensive sun exposure and 72.73% had signs of actinic keratosis. The most common anatomical site of the tumours was the head/neck area (72%). Clinically, nodular (64%), ulcerated (88%) and non-pigmented (76%) lesions prevailed. Dermatoscopically, 92% had prominent vasculature and monomorphous arborizing vessels with a diffuse arrangement, representing the most frequently observed type. Ulceration (88%), SCC dermatoscopic criteria (56%), white strands/blotches (56%) and features of pigmentation (40%) were also detected We suggest that the most common prototype of BSC is an ulcerated, facial nodule in elderly males with photo-damaged skin, dermatoscopically displaying combined features of mostly nodular BCC and, to a less extent, SCC.
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Carcinoma Basoescamoso/patología , Dermoscopía , Neoplasias Cutáneas/patología , Anciano , Anciano de 80 o más Años , Carcinoma Basoescamoso/etiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Neoplasias Cutáneas/etiología , Luz Solar/efectos adversosRESUMEN
BACKGROUND: Immunohistochemistry for preferentially expressed antigen in melanoma (PRAME) has been studied in melanocytic lesions but not nonmelanoma skin cancers (NMSCs). This study evaluated PRAME expression in NMSCs and dermoepidermal junction (DEJ) melanocytes in the surrounding skin. METHODS: Ninety-nine NMSCs were studied: 23 Merkel cell carcinomas (MCCs), 25 well to poorly differentiated squamous cell carcinomas (SCCs), 14 basal cell carcinomas (BCCs), five basosquamous carcinomas, four sebaceous carcinomas, ten atypical fibroxanthomas, 11 dermatofibrosarcoma protuberans, and seven leiomyosarcomas. Staining quality was considered low or high intensity. Staining quantity was reported as negative 0%, 1% to 24%, 25% to 50%, and >50%. DEJ melanocyte PRAME expression was recorded. RESULTS: Forty-eight percent of NMSCs showed PRAME expression, mostly low intensity in fewer than 25% of cells. High-intensity expression was noted in one poorly differentiated SCC, six BCCs, and seven MCCs. Only MCCs showed expression in greater than 25% of tumor cells. Focal DEJ melanocytes expressed high-intensity PRAME in 18% of cases, most commonly SCCs (11/23). CONCLUSIONS: PRAME is negative or expressed with low intensity in a small percentage of NMSCs, with the exception of some MCC showing high-intensity and diffuse staining. Focal DEJ melanocytes showed high-intensity PRAME reactivity in the skin surrounding some NMSCs.
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Antígenos de Neoplasias/metabolismo , Melanocitos/metabolismo , Melanoma/diagnóstico , Neoplasias Cutáneas/patología , Adenocarcinoma Sebáceo/metabolismo , Adenocarcinoma Sebáceo/patología , Carcinoma Basocelular/metabolismo , Carcinoma Basocelular/patología , Carcinoma Basoescamoso/metabolismo , Carcinoma Basoescamoso/patología , Carcinoma de Células de Merkel/metabolismo , Carcinoma de Células de Merkel/patología , Carcinoma de Células Escamosas/metabolismo , Carcinoma de Células Escamosas/patología , Dermatofibrosarcoma/metabolismo , Dermatofibrosarcoma/patología , Humanos , Inmunohistoquímica/métodos , Leiomiosarcoma/metabolismo , Leiomiosarcoma/patología , Melanocitos/patología , Melanoma/metabolismo , Piel/metabolismo , Piel/patología , Xantomatosis/metabolismo , Xantomatosis/patologíaRESUMEN
BACKGROUND: Xeroderma pigmentosum (XP) is a rare genodermatosis with a lifelong propensity to develop malignant skin tumors. METHODS: In this retrospective study, 24 XP patients were evaluated with regard to frequency and clinicopathological features of benign and malignant skin tumors. RESULTS: Seventeen patients had at least one malignant skin tumor diagnosed: basal cell carcinoma (BCC) in 13 patients (n = 72), basosquamous carcinoma in three patients (n = 4), squamous cell carcinoma in six patients (n = 13), keratoacanthoma in three patients (n = 15), and melanoma in six patients (n = 18). Most melanomas (n = 15) were in situ lesions. Several benign skin tumors were noted such as tricholemmoma (n = 1), trichoepithelioma (n = 1), trichoblastoma (n = 1), follicular infundibulum tumor (n = 1), keratoacanthoma-like follicular lesion (n = 1), adnexal tumors with folliculosebaceous (n = 1) and tricholemmal differentiation (n = 1), and neurofibroma (n = 1). Benign vascular proliferations including pyogenic granulomas (n = 8), widespread telangiectasias, and senile angioma-like lesions were also observed in 3, 5, and 5 patients, respectively. CONCLUSIONS: Similar to many reports, BCC was found to be the most common malignant skin tumor. The high prevalence of benign adnexal tumors of follicular differentiation, some of them showing mixed histopathological features and various vascular proliferations in our series raises the question of whether they indicate a formerly undescribed association with XP.
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Granuloma Piogénico/patología , Neoplasias de Anexos y Apéndices de Piel/patología , Neoplasias Cutáneas/patología , Xerodermia Pigmentosa/patología , Adolescente , Adulto , Carcinoma Basocelular/diagnóstico , Carcinoma Basocelular/patología , Carcinoma Basoescamoso/diagnóstico , Carcinoma Basoescamoso/patología , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/patología , Niño , Femenino , Granuloma Piogénico/diagnóstico , Humanos , Queratoacantoma/diagnóstico , Queratoacantoma/patología , Masculino , Melanoma/diagnóstico , Melanoma/patología , Persona de Mediana Edad , Neoplasias de Anexos y Apéndices de Piel/diagnóstico , Prevalencia , Estudios Retrospectivos , Neoplasias Cutáneas/epidemiología , Xerodermia Pigmentosa/complicaciones , Adulto JovenRESUMEN
Basosquamous carcinoma (BSC) is a rare non-melanoma skin cancer that shares the characteristic features of both basal and squamous cell carcinomas (BCC, SCC). Our research enables better characterization of BSC in comparison to high-risk subtypes of BCC and SCC. Paper includes a retrospective analysis of BSC cases regarding sex, age, number of tumors and anatomical distribution in comparison to BCC and SCC evaluating the differences and defining the implications. Histologically confirmed carcinomas recorded between 1999 and 2019 were studied. 181 diagnosed BSC cases were identified, making this study the largest cohorts of BSC patients reported worldwide. Most cases were reported on head and neck. Analysis of facial anatomic distribution shows that most commonly affected sites were the nose (43%) and the cheek (25%). The age at excision of metatypical BCC was higher than those of low-risk BCC (P < 0.05), however similar to high-risk BCC (P = 0.20). We revisited that the concept of BSC is the most similar to high-risk subtypes of BCC. Patients with diagnosed BSC have higher risk of second nonmelanoma skin cancer. Therefore, the frequency of follow-up examination should be adjusted to the individual risk of another skin cancer.
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Carcinoma Basocelular/epidemiología , Carcinoma Basoescamoso/epidemiología , Carcinoma de Células Escamosas/epidemiología , Neoplasias Cutáneas/epidemiología , Anciano , Carcinoma Basocelular/patología , Carcinoma Basoescamoso/patología , Carcinoma de Células Escamosas/patología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Metástasis de la Neoplasia , Recurrencia Local de Neoplasia , Estudios Retrospectivos , Riesgo , Neoplasias Cutáneas/patologíaRESUMEN
Basosquamous carcinoma (BSC) is a malignant and aggressive neoplasm with unclear molecular etiology. It is often misdiagnosed as basal cell carcinoma (BCC) or squamous cell carcinoma (SCC) on biopsy as there are unclear histologic criteria for this neoplasm. It has been interchangeably referred to as metatypical BCC and collision tumor, although these entities are different. On histology, BSC consists of basal cells with areas with nests of squamous cells and an intermediate transition zone. The nature of this transition zone is not clearly defined in literature; however, Ber-EP4 staining is diagnostic for BSC. A gradation of Ber-EP4 staining from strongly positive in basaloid areas to weakly positive in an intermediate zone is demonstrated (no staining of squamous areas). Treatment with an array of modalities including wide local excision, Mohs surgery, radiotherapy, and palliative chemotherapy has been performed. We recommend further molecular studies in understanding the genetic mechanisms leading to BSC. For the purpose of good clinical practice, multiple biopsies and immunohistochemical studies should be performed to avoid sampling error that can lead to a misdiagnosis of BSC.
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Biomarcadores de Tumor/análisis , Carcinoma Basoescamoso/diagnóstico , Neoplasias Cutáneas/diagnóstico , Piel/patología , Biomarcadores de Tumor/metabolismo , Biopsia , Carcinoma Basocelular/diagnóstico , Carcinoma Basocelular/patología , Carcinoma Basoescamoso/patología , Carcinoma Basoescamoso/terapia , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/patología , Quimioradioterapia/métodos , Diagnóstico Diferencial , Errores Diagnósticos/prevención & control , Humanos , Inmunohistoquímica , Cirugía de Mohs , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/terapiaRESUMEN
Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis associated with hypersensitivity to ultraviolet radiation (UVR), being due to defects involving the nucleotide excision repair pathway. Patients with XP are prone to develop multiple cutaneous neoplasms including non-melanoma skin cancers and melanoma. Collision tumors in patients with XP have been reported in the literature including the following lesions, actinic keratosis, basal cell carcinoma, squamous cell carcinoma, and in situ melanoma. Herein, we present a rare collision tumor composed of melanoma and basosquamous carcinoma in a 13-year-old XP patient and describe the dermoscopic features.
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Carcinoma Basoescamoso/patología , Neoplasias Faciales/patología , Melanoma/patología , Neoplasias Cutáneas/patología , Xerodermia Pigmentosa/complicaciones , Xerodermia Pigmentosa/patología , Adolescente , Carcinoma Basoescamoso/etiología , Neoplasias Faciales/etiología , Humanos , Masculino , Melanoma/etiología , Neoplasias Cutáneas/etiologíaAsunto(s)
Carcinoma Basoescamoso/diagnóstico , Transformación Celular Neoplásica , Laceraciones/patología , Cuero Cabelludo/patología , Neoplasias Cutáneas/diagnóstico , Carcinoma Basoescamoso/etiología , Carcinoma Basoescamoso/patología , Carcinoma Basoescamoso/cirugía , Femenino , Humanos , Laceraciones/complicaciones , Persona de Mediana Edad , Invasividad Neoplásica , Cuero Cabelludo/lesiones , Cuero Cabelludo/cirugía , Neoplasias Cutáneas/etiología , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/cirugíaAsunto(s)
Anilidas/uso terapéutico , Antineoplásicos/uso terapéutico , Carcinoma Basoescamoso/tratamiento farmacológico , Neoplasias Faciales/tratamiento farmacológico , Piridinas/uso terapéutico , Cuero Cabelludo , Neoplasias Cutáneas/tratamiento farmacológico , Carcinoma Basoescamoso/patología , Neoplasias Faciales/patología , Femenino , Humanos , Persona de Mediana Edad , Invasividad Neoplásica , Neoplasias Cutáneas/patologíaRESUMEN
Basosquamous carcinoma (BSC) is an aggressive skin neoplasm with the features of both basal cell carcinoma (BCC) and squamous cell carcinoma (SCC). While genetic drivers of BCC and SCC development have been extensively characterized, BSC has not been well studied, and it remains unclear whether these tumors originally derive from BCC or SCC. In addition, it is unknown which molecular pathways mediate the reprogramming of tumor keratinocytes toward basaloid or squamatized phenotypes. We sought to characterize the genomic alterations underlying sporadic BSC to elucidate the derivation of these mixed tumors. We identifed frequent Hedgehog (Hh) pathway mutations in BSCs, implicating Hh deregulation as the primary driving event in BSC. Principal component analysis of BCC and SCC driver genes further demonstrate the genetic similarity between BCC and BSC. In addition, 45% of the BSCs harbor recurrent mutations in the SWI/SNF complex gene, ARID1A, and evolutionary analysis revealed that ARID1A mutations occur after PTCH1 but before SCC driver mutations, indicating that ARID1A mutations may bestow plasticity enabling squamatization. Finally, we demonstrate mitogen-activated protein kinase pathway activation and the loss of Hh signaling associated with the squamatization of BSCs. Overall, these results support the genetic derivation of BSCs from BCCs and highlight potential factors involved in modulating tumor reprogramming between basaloid and squamatized phenotypes.
Asunto(s)
Carcinoma Basoescamoso/patología , Proteínas Hedgehog/metabolismo , Neoplasias Cutáneas/patología , Adaptación Fisiológica , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma Basoescamoso/genética , Análisis Mutacional de ADN , Proteínas de Unión al ADN/genética , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mutación/genética , Neoplasias Cutáneas/genética , Factores de Transcripción/genética , Secuenciación Completa del GenomaAsunto(s)
Anilidas/uso terapéutico , Carcinoma Basoescamoso/tratamiento farmacológico , Piridinas/uso terapéutico , Neoplasias Cutáneas/tratamiento farmacológico , Anciano , Anciano de 80 o más Años , Antineoplásicos/uso terapéutico , Carcinoma Basoescamoso/patología , Femenino , Humanos , Neoplasias Cutáneas/patologíaRESUMEN
Esophageal small cell carcinoma (E-SmCC) and basaloid squamous cell carcinomas (BSCCs) are both highly aggressive malignancies, but their detailed differences in clinical behaviors have remained virtually unknown. In addition, treatment strategies of the patients with E-SmCC have not been established. 29 cases of E-SmCC and 39 with BSCC were examined in this study to clarify the clinical features and outcome of the patients with E-SmCC and to compare the findings with those of BSCC. E-SmCCs presented a more advanced status than BSCC (TNM Stage: Pâ=â.002). Esophagectomy was performed in 15 small cell carcinoma patients and 14 were treated with non-surgical/systemic therapy. The clinical outcome of the small cell carcinoma cases was significantly worse than those with BSCC (Pâ=â.001), but results of a stage-stratified analysis revealed that the Stage I small cell carcinoma patients presented favorable prognosis (3-year survival rate 100%, nâ=â4). In contrast, among those with Stage II-IV, clinical outcome tended to be better in the systemic therapy group (3-year survival rate 49%, nâ=â13) than the surgically treated group (3-year survival rate 0%, nâ=â12). E-SmCC was a more aggressive neoplasm than BSCC. However, early detection could possibly improve the clinical outcome of patients with E-SmCC. Systemic therapy could also benefit the patients with advanced disease (Stage II-IV).
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Carcinoma Basoescamoso/patología , Carcinoma de Células Pequeñas/patología , Neoplasias Esofágicas/patología , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Carcinoma Basoescamoso/tratamiento farmacológico , Carcinoma Basoescamoso/cirugía , Carcinoma de Células Pequeñas/tratamiento farmacológico , Carcinoma de Células Pequeñas/cirugía , Quimioterapia Adyuvante , Neoplasias Esofágicas/tratamiento farmacológico , Neoplasias Esofágicas/cirugía , Esofagectomía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias , Análisis de SupervivenciaRESUMEN
Basal cell carcinoma (BCC) is the most common locally invasive malignant epidermal neoplasm. It is generally a tumor that runs a slow progressive course and can usually be cured by surgery. Basosquamous carcinoma is considered by some authors a rare subtype of BCC, while others describe it as independent tumor with different evolution from BCC. The aim of the study was to present a very interesting case of initially otherwise ordinary BCC that during its repeated and extensive relapses changed its histopathology in a basosquamous carcinoma, despite the free surgical margins and leading to major surgeries with loss of right eye. We present a case of 75-year-old male diagnosed in 2008 with a tumor located in the right naso-orbital region. The patient underwent surgical treatment, the histopathology being consistent with BCC. He presented recurrences of the tumor in 2009 and 2010 that were excised at approximately 9 and 16 months, respectively, from the first intervention. In 2010, the surgical procedure was radical, with removal of the tumor and the entire right superior eyelid. This approach proved to have negative side effects over the right eye in time. Therefore, after two months, a complete exenteration of the right orbit was necessary. The tumor recurred again for three times, after 20, 30 and 42 months from the first intervention and every time surgical treatment was applied. The microscopic inspection of the biopsies showed similarities between recurrences and initial tumor. In 2013, after 57 months from the first intervention, the patient was readmitted with a lesion in the same region that was excised but that time the histopathology differed from the previous, the tumor being composed of sheets of achromic epithelioid cells, with vesicular nuclei and prominent, eosinophilic nucleoli. The tumor cells were positive for pan-cytokeratin AE1∕AE3 and negative for S100 protein, human melanoma black 45 (HMB45) and vimentin that sustained the diagnosis of basosquamous carcinoma. The paper presented an interesting case with different histopathological features from a recurrence to other, with important implication in diagnosis and prognosis. The transformation of BCC into basosquamous carcinoma sustain that the basosquamous carcinoma is better a rare, aggressive variant of BCC, than an individual lesion.
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Carcinoma Basocelular/diagnóstico , Carcinoma Basoescamoso/diagnóstico , Anciano , Carcinoma Basocelular/patología , Carcinoma Basoescamoso/patología , Humanos , MasculinoRESUMEN
Molecular subtypes of muscle-invasive bladder tumors have emerged as a promising research tool with potential to stratify patients for neoadjuvant treatment. Prior to radical cystectomy, the utility of molecular classification and biomarkers depend on concordance between tissue from transurethrally resected specimens and disseminated disease. We assess the concordance of molecular subtypes and a large number of potential biomarkers in 67 pairs of muscle-invasive bladder tumors and synchronous lymph-node metastases. Tissue cores were stained for 29 immunohistochemistry markers and immunohistochemistry-based molecular subtype classification was performed. Molecular subtype was determined by mRNA profiling for 57 bladder tumors and 28 matched lymph-node metastases. Full section immunohistochemistry was performed to assess intra-tumor subtype heterogeneity in discordant cases, and exome sequencing was performed for 20 sample pairs. Discordant subtype classification between the bladder tumor and lymph-node metastasis was generally rare (12/67, 18%), but most (7/12, 58%) involved the Basal/Squamous-like subtype. Discordant Basal/Squamous-like tumors showed either Urothelial-like or Genomically Unstable, luminal-like phenotype in the lymph-node metastasis. Full section immunohistochemistry revealed intra-tumor subtype heterogeneity for six discordant cases including four involving the Basal/Squamous-like subtype. Subtype concordance for non- Basal/Squamous-like tumors was 91%. RNA-based classification agreed with immunohistochemistry classification but quantitative assessment is necessary to avoid false detection of subtype shifts. Most high confidence cancer mutations were shared between samples (n = 93, 78%), and bladder tumor private mutations (n = 20, 17%) were more frequent than those private to the lymph-node metastasis (n = 7, 6%). We conclude that bladder tumors and lymph-node metastases have overall similar molecular subtype, biomarker expression, and cancer mutations. The main exception was tumors of the Basal/Squamous-like subtype where most cases showed discordant classification, some with evidence of intra-tumor heterogeneity. The data are of relevance for neoadjuvant treatment stratification and raises questions on the dynamics of molecular subtypes during bladder cancer progression.
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Biomarcadores de Tumor/genética , Carcinoma Basoescamoso/genética , Metástasis Linfática/genética , Neoplasias de la Vejiga Urinaria/genética , Anciano , Anciano de 80 o más Años , Carcinoma Basoescamoso/clasificación , Carcinoma Basoescamoso/patología , Femenino , Humanos , Metástasis Linfática/patología , Masculino , Persona de Mediana Edad , Neoplasias de la Vejiga Urinaria/clasificación , Neoplasias de la Vejiga Urinaria/patologíaRESUMEN
BACKGROUND AND OBJECTIVES: Basosquamous carcinoma (BSC) is a rare, biologically aggressive tumor. This cross-sectional study aims to define risk factors for subclinical nodal metastasis in primary BSC, and identify the patients who would benefit from routine sentinel node biopsy (SLNB) as part of the initial management. METHODS: A total of 142 patients, with histologically proven BSC without palpable lymph nodes, underwent SLNB after the initial excision. Clinicopathological features and demographics were analyzed between the patients with detected micrometastasis (SLNM) and those with negative SLN. RESULTS: In 7.7% patients, subcapsular and <0.1 mm SLNM were found. The frequency of SLNM was 0.9%, 11.8%, and 80.0% in patients with maximum lesion diameter ≤ 2 cm, 2.1-3.0 cm and >3.0 cm, respectively (P < 0.001) and was strongly associated with perineural (P < 0.001; OR = 26.46, 95% CI = 5.62-124.52) and lymphatic invasion (P < 0.001; OR = 17.35, 95% CI = 4.44-67.91). Within 18-84 months, no recurrence or metastasis were observed in SLNM positive patients. False negative SLNB rate of 15.4% was recorded. CONCLUSION: Cutaneous BSC is associated with early nodal metastatic potential. Tumor size >2 cm, lymphatic and perineural invasion are significant determinants for SLN micrometastasis. In the absence of palpable lymphadenopathy, wide resection and SLNB with long-term follow-up are highly recommended in these patients.
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Carcinoma Basoescamoso/patología , Metástasis Linfática , Biopsia del Ganglio Linfático Centinela , Neoplasias Cutáneas/patología , Anciano , Estudios Transversales , Femenino , Humanos , Ganglios Linfáticos/patología , Masculino , Invasividad Neoplásica , Micrometástasis de Neoplasia/patología , Nervios Periféricos/patología , Estudios ProspectivosRESUMEN
Periungual basal cell carcinoma is rare and needs to be differentiated from other common diseases that affect this region. Several factors are associated with the development of this tumor, and sun damage seems to play an important role in its pathogenesis. Dermoscopy of clinically indolent lesions on the nail unit can shorten the diagnostic process and avoid destructive treatment and functional damage.