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INTRODUCTION: Dermatofibrosarcoma protuberans (DFSP) is the most common sarcoma of the skin. Although distant metastases are infrequent, DFSP is highly aggressive locally with frequent local recurrences. It has been reported that the presence within the tumour of areas histopathologically mimicking fibrosarcoma may increase the risk of recurrence. OBJECTIVE: The objective of this study was to review the clinical features of our patients with DFSP and the factors associated with recurrence of the tumour, focussing on the presence of fibrosarcomatous areas. METHODS: Retrospective study of patients with DFSP diagnosed in 1990-2021 in a tertiary university hospital. The medical records were reviewed to obtain the following data: age, sex, tumour location, diameter, evolution time, presence of fibrosarcomatous areas, development of recurrence, and follow-up. Factors possibly associated with disease-free survival were analysed with Kaplan-Meier method and multivariate Cox regression. RESULTS: 148 patients (74 women/74 men, mean age 46.28 years, SD 14.431) were included in the study. Tumours involved the head and neck in 15 cases, thorax in 31, abdomen in 16, upper back in 43, lower back in 10, upper extremities in 10, and lower extremities in 23. Fibrosarcoma-like areas were observed in 16 tumours (10.81%). In 17 patients (11.49%), recurrences were observed (13 local recurrences, 3 lung metastasis, and 1 local recurrence with lung metastasis). Fibrosarcomatous DFSP recurred more frequently than classic DFSP (50% vs. 6.82%, respectively), and its disease-free survival was significantly lower (p < 0.001). In multivariate Cox regression, the presence of fibrosarcomatous areas was the only factor influencing disease-free survival. CONCLUSIONS: It is important to identify the fibrosarcomatous variant since it recurs more frequently and has lower recurrence-free survival. Distant metastases, mainly in the lung, are also more frequent in fibrosarcomatous DFSP.
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Dermatofibrossarcoma , Recidiva Local de Neoplasia , Neoplasias Cutâneas , Humanos , Dermatofibrossarcoma/patologia , Dermatofibrossarcoma/mortalidade , Feminino , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/mortalidade , Neoplasias Cutâneas/terapia , Recidiva Local de Neoplasia/patologia , Idoso , Intervalo Livre de Doença , Adulto Jovem , Fibrossarcoma/patologia , Fibrossarcoma/mortalidade , Neoplasias de Cabeça e Pescoço/patologia , Neoplasias de Cabeça e Pescoço/mortalidade , AdolescenteRESUMO
BACKGROUND: Subungual melanoma (SM) is an unusual type of melanocytic tumor affecting the nail apparatus. The mutational prevalence of the most prominently mutated genes in melanoma has been reported in small cohorts of SM, with unclear conclusions on whether SM is different from the rest of melanomas arising in acral locations or not. Hence, the molecular profile of a large series of SM is yet to be described. OBJECTIVES: The aim of this study was to describe the molecular characteristics of a large series of SM and their association with demographic and histopathological features. METHODS: Patients diagnosed with SM between 2001 and 2021 were identified from six Spanish and Italian healthcare centers. The mutational status for BRAF, NRAS, KIT, and the promoter region of TERT (TERTp) were determined either by Sanger sequencing or next-generation sequencing. Clinical data were retrieved from the hospital databases to elucidate potential associations. RESULTS: A total of 68 SM cases were included. Mutations were most common in BRAF (10.3%) and KIT (10%), followed by NRAS (7.6%), and TERTp (3.8%). Their prevalence was similar to that of non-subungual acral melanoma but higher in SM located on the hand than on the foot. CONCLUSIONS: To date, this study represents the largest cohort of SM patients with data on the known driver gene mutations. The low mutation rate supports a different etiopathogenic mechanism for SM in comparison of non-acral cutaneous melanoma, particularly for SM of the foot.
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Melanoma , Doenças da Unha , Neoplasias Cutâneas , Telomerase , Humanos , Melanoma/patologia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/diagnóstico , Proteínas Proto-Oncogênicas B-raf/genética , Proteínas Proto-Oncogênicas c-kit/genética , Regiões Promotoras Genéticas/genética , Mutação , Doenças da Unha/genética , Análise Mutacional de DNA , Telomerase/genética , Proteínas de Membrana/genética , GTP Fosfo-Hidrolases/genéticaRESUMO
Introduction: Granuloma annulare (GA) has been reported as associated with multiple diseases, mainly diabetes mellitus (DM), thyroid diseases, and dyslipidemia. However, the high prevalence of some of these illnesses makes it difficult to assess whether the association is real or fortuitous. Objectives: Our objective was to analyze the clinical features of GA patients and the possible associations. Methods: This is a retrospective observational study of 225 patients with biopsy-proven GA diagnosed between 2009 and 2019 in a referral university hospital in Barcelona, Spain. Clinical charts were reviewed to obtain clinical data. As a control group we used a random list of 225 patients diagnosed in the hospital traumatology department in the same period, matched by age and sex. Results: Diabetes was diagnosed in 40 GA patients (18%) (34 in the control group, 15%) and hypothyroidism in 33 (15%) (22 in the control group 9.8%); the differences were not significant. We also did not detect any association with uveitis, sarcoidosis, necrobiosis lipoidica, Sweet syndrome, HIV infection, hepatitis B, or hematological malignancies. We only detected a possible association with hepatitis C (6 GA patients, 2.7%, versus 0 controls, P = 0.03), and hypercholesterolemia (108 GA patients, 48%, versus 79 controls, 35%, P = 0.007). Conclusions: The possible pathogenic explanations for the association with hepatitis C and hypercholesterolemia seem unlikely. We consider that the association of GA with other diseases, including hypercholesterolemia and hepatitis C, is doubtful and that it there is no justification rule out possible associated diseases in patients with GA.
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BACKGROUND: Pleurodesis is a common technique for treating the accumulation of air or liquid in the pleural space caused by pneumothorax or pleural effusion, it is based on the bounding of pleural layers through induced inflammatory lesions. There are several pleurodesis procedures. OBJECTIVES: To test and describe the inflammatory effect of hyperthermia on the pleural and peritoneal mesothelia of rats, with the aim of testing the effectiveness of this process for inducing pleurodesis. METHODS: 35 Sprague-Dawley (male/female) rats were randomized into four treatment groups: Group A (Talc, 10 individuals); group B (control, 5 individuals); group C (hyperthermic isotonic saline, 10 individuals); and group D (filtrate air at 50°, 10 individuals). Inflammatory effect of hyperthermia was the primary outcome parameter. RESULTS: In the talc group, minimal adhesions between both pleural and peritoneal layers were observed in seven rats. Talc produced peritoneal mesothelium inflammation and fibrosis associated to foreign body giant cells in 80% (8/10) of the sample. Furthermore, clear evidence of a granulomatous foreign-body reaction was detected. No macroscopic and/or microscopic damage was registered in the remaining three groups (control, hyperthermic, and filtrate air). CONCLUSIONS: Talc is an excellent method for producing pleuro-peritoneal inflammatory lesions. On the contrary, hyperthermia apparently does not induce the macroscopic and microscopic damage that is required for efficient pleurodesis. Therefore, hyperthermia should not be used for pleurodesis procedures.
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Hipertermia Induzida , Pleurodese , Animais , Feminino , Humanos , Masculino , Pleura/patologia , Pleurodese/métodos , Ratos , Ratos Sprague-Dawley , TalcoRESUMO
BACKGROUND: Granulomatous mastitis (GM) is defined by the formation of granulomatous inflammation in breast tissue. Erythema nodosum (EN) is a reactive inflammatory panniculitis characterized by erythematous subcutaneous nodules in the lower limbs. The association of GM with EN has been rarely reported. Our aim was to retrospectively review our series of patients with GM to better characterize their features and their association with EN. METHODS: Cases histologically diagnosed as granulomatous inflammation in breast tissue between 1995 and 2020 were retrospectively reviewed. RESULTS: Forty-two women were diagnosed with GM. The average age at diagnosis was 41.619years, and 59.5% were of South-American ethnicity. EN was associated with GM in 11.9% of the patients. Patients with EN were diagnosed earlier than isolated GM (0.4months vs 6.81months; P<.05). Ulceration in the GM was more prevalent in patients with associated EN (60% vs 14.7%; P<.05). CONCLUSION: EN in patients with GM may reduce the evolution time and may help to diagnose this rare condition that mimics breast carcinoma.
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Neoplasias da Mama , Eritema Nodoso , Mastite Granulomatosa , Eritema Nodoso/diagnóstico , Feminino , Mastite Granulomatosa/complicações , Mastite Granulomatosa/diagnóstico , Humanos , Pesquisa , Estudos RetrospectivosRESUMO
BACKGROUND: Cutaneous leiomyoma (CL) is a benign smooth muscle tumour included in painful skin tumours. Multiple CLs are cutaneous markers of hereditary leiomyomatosis and renal cell cancer (HLRCC). OBJECTIVES: To retrospectively review our series of patients with CLs to analyse their clinical features and the association with HLRCC. METHODS: Cases coded as CL in the database of the pathology department between 2004 and 2019 were included in the study. Medical records were retrospectively reviewed to obtain the following data: age, sex, location, number of lesions, diameter, evolution time at diagnosis, suspected clinical diagnosis, tenderness, status of resection margins, development of recurrence, follow-up time, and association with HLRCC. RESULTS: 152 patients had CLs, 89 women and 63 men, mean age 56.26, SD 16.030 years. Subtypes were piloleiomyoma in 62 patients, angioleiomyoma in 80, and genital leiomyoma in 10. All of our 11 patients with multiple lesions corresponded to piloleiomyomas, and HLRCC was confirmed in 8 of them (73%). Patients with HLRCC were younger than patients with piloleiomyomas without HLRCC (34.88 vs. 56.17 years, p = 0.009). Vascular and genital leiomyomyomas were solitary and were not associated with HLRCC. CONCLUSION: In patients with multiple piloleiomyomas HLRCC must be ruled out as it is confirmed in a high proportion of cases. The probability of fumarate hydratase mutation is greater in multiple piloleiomyomas involving both the trunk and upper extremities in the same patient.
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Neoplasias Renais , Leiomiomatose , Síndromes Neoplásicas Hereditárias , Neoplasias Cutâneas , Feminino , Fumarato Hidratase/genética , Humanos , Neoplasias Renais/genética , Leiomiomatose/diagnóstico , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Neoplasias Cutâneas/patologia , Neoplasias UterinasRESUMO
BACKGROUND: Pleurodesis is a common technique for treating the accumulation of air or liquid in the pleural space caused by pneumothorax or pleural effusion, it is based on the bounding of pleural layers through induced inflammatory lesions. There are several pleurodesis procedures. OBJECTIVES: To test and describe the inflammatory effect of hyperthermia on the pleural and peritoneal mesothelia of rats, with the aim of testing the effectiveness of this process for inducing pleurodesis. METHODS: 35 Sprague-Dawley (male/female) rats were randomized into four treatment groups: Group A (Talc, 10 individuals); group B (control, 5 individuals); group C (hyperthermic isotonic saline, 10 individuals); and group D (filtrate air at 50°, 10 individuals). Inflammatory effect of hyperthermia was the primary outcome parameter. RESULTS: In the talc group, minimal adhesions between both pleural and peritoneal layers were observed in seven rats. Talc produced peritoneal mesothelium inflammation and fibrosis associated to foreign body giant cells in 80% (8/10) of the sample. Furthermore, clear evidence of a granulomatous foreign-body reaction was detected. No macroscopic and/or microscopic damage was registered in the remaining three groups (control, hyperthermic, and filtrate air). CONCLUSIONS: Talc is an excellent method for producing pleuro-peritoneal inflammatory lesions. On the contrary, hyperthermia apparently does not induce the macroscopic and microscopic damage that is required for efficient pleurodesis. Therefore, hyperthermia should not be used for pleurodesis procedures.
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BACKGROUND: Primary cardiac tumors are extremely rare; most are myxomas with a benign prognosis. However, primary sarcomas are highly aggressive and treatment options are limited. Radical surgery is often not feasible and conventional therapies provide only modest results. Due to the rare nature of primary cardiac tumors, there are no proper randomized studies to guide treatment. Their complexity requires alternative approaches in order to improve treatment efficacy. METHODS: We isolated DNA from 5 primary cardiac sarcomas; the quality of DNA from 3 of them was sufficient to perform high-resolution single nucleotide polymorphism (SNP) array analysis. RESULTS: In the present study, molecular karyotyping revealed numerous segmental chromosomal alterations and amplifications affecting actionable genes that may be involved in disease initiation and/or progression. These include chromosomal break flanking AKT2 in undifferentiated pleomorphic rhabdomyosarcoma, chromosomal break in promoter of TERT, and gain of CDK4 and amplification of MDM2 in inflammatory myofibroblastic tumor. We detected segmental break flanking MOS in high-grade myxofibrosarcoma. In addition, the high number of chromosomal aberrations in high-grade myxofibrosarcoma may cause multiple tumor-specific epitopes, supporting the study of immunotherapy treatment in this type of aggressive tumor. CONCLUSION: Our results provide a genetic rationale that supports an alternative, personalized therapeutic management of primary cardiac sarcomas.
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BACKGROUND: Chronic immunosuppression promotes nonmelanocytic squamous cell carcinoma (SCC) after kidney transplantation. Adaptive and innate immunity play a key role controlling tumor growth and are influenced by different immunosuppressive agents. We hypothesized that functional impairment of tumor-specific T cell responses due to calcineurin inhibitors (CNI) could contribute to SCC development, whereas conversion to mammalian target of rapamycin inhibitors (mTOR-i) could recover this protective immune response. METHODS: Peripheral tumor-specific T cell responses against main SCC-derived antigens using the IFN-γ enzyme-linked immunospot assay and intratumor (IT) and circulating immune phenotypes (CD4 + T, CD8 + T, CD20 + B, CD56 + NK, FOXP3 + regulatory T [Treg] cells) were explored in a cross-sectional analysis in 59 kidney transplant patients with SCC on CNI (KT-CNI-SCC) or mTOR-i (KT-mTORi-SCC), 25 nontransplants developing SCC (NoKT-SCC) and 6 healthy controls. Moreover, 25 KT-CNI-SCC were switched to mTOR-i and evaluated after 12 months. RESULTS: Kidney transplant patients showed lower IT infiltrates and tumor-specific T cell responses than NoKT-SCC, and intratumoral and circulating FOXP3 + Treg cells were higher in KT-mTORi-SCC (P < 0.05). Tumor-specific T cell responses were significantly lower in KT-CNI-SCC than KT-mTORi-SCC and NoKT-SCC and predicted SCC relapses (area under the curve = 0.837; P < 0.05). One-year after mTOR-i conversion, a significant increase in FOXP3 + Treg cell numbers and tumor-specific T cell responses were observed, reaching similar levels than KT-mTORi-SCC and NoKT-SCC patients. CONCLUSIONS: Tumor-specific T cell responses are strongly impaired in CNI-treated patients but recover after mTOR-i conversion, reducing SCC relapses.
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Antígenos de Neoplasias/imunologia , Carcinoma de Células Escamosas/induzido quimicamente , Hospedeiro Imunocomprometido , Imunossupressores/efeitos adversos , Transplante de Rim/efeitos adversos , Linfócitos do Interstício Tumoral/efeitos dos fármacos , Neoplasias Cutâneas/induzido quimicamente , Linfócitos T Reguladores/efeitos dos fármacos , Evasão Tumoral/efeitos dos fármacos , Idoso , Inibidores de Calcineurina/efeitos adversos , Carcinoma de Células Escamosas/imunologia , Carcinoma de Células Escamosas/metabolismo , Carcinoma de Células Escamosas/patologia , Estudos de Casos e Controles , Estudos Transversais , Citocinas/imunologia , Citocinas/metabolismo , Substituição de Medicamentos , Quimioterapia Combinada , Feminino , Humanos , Linfócitos do Interstício Tumoral/imunologia , Linfócitos do Interstício Tumoral/metabolismo , Masculino , Pessoa de Meia-Idade , Fenótipo , Inibidores de Proteínas Quinases/efeitos adversos , Neoplasias Cutâneas/imunologia , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologia , Linfócitos T Reguladores/imunologia , Linfócitos T Reguladores/metabolismo , Serina-Treonina Quinases TOR/antagonistas & inibidores , Serina-Treonina Quinases TOR/metabolismo , Resultado do TratamentoRESUMO
BACKGROUND: There are few studies focusing on the clinical characteristics of Merkel cell carcinoma (MCC). OBJECTIVE: To retrospectively analyze the clinical features of our patients and their relationship with sun exposure. METHODS: Thirty-six patients diagnosed with MCC (20 men and 16 women, mean age 72.08 years) were included in the study. RESULTS: 21 patients developed MCC in sun-exposed skin and 15 patients in non-sun-exposed areas. MCC was >2 cm in 19 cases. Six of the 7 patients who died as a result of MCC had non-sun-exposed tumors. Only tumor size >2 cm significantly influenced survival (p = 0.033). CONCLUSION: Sun-exposed lesions tended to be <2 cm in diameter and were more common in men, while non-sun-exposed tumors were larger, usually occurring in women and carrying a greater likelihood of death by MCC. Non-sun-exposed tumors usually present as fast-growing, multilobar nodular lesions with a smooth shiny surface.
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Carcinoma de Célula de Merkel/mortalidade , Carcinoma de Célula de Merkel/patologia , Neoplasias Cutâneas/mortalidade , Neoplasias Cutâneas/patologia , Luz Solar/efeitos adversos , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia por Agulha , Carcinoma de Célula de Merkel/cirurgia , Estudos de Coortes , Intervalo Livre de Doença , Feminino , Hospitais Universitários , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Invasividade Neoplásica/patologia , Estadiamento de Neoplasias , Prognóstico , Estudos Retrospectivos , Medição de Risco , Neoplasias Cutâneas/cirurgia , Espanha , Análise de Sobrevida , Resultado do TratamentoRESUMO
Lung carcinoma is one of the most frequent sources of skin metastases in male patients. Our objective was to analyse the clinical and pathological features of 30 patients with skin metastases from lung carcinoma. Cutaneous biopsies codified as 'skin metastasis from lung carcinoma' during 1988-2009 at Bellvitge Hospital (Barcelona, Spain) were reviewed. The histological types of 30 lung carcinomas (29 men, 1 woman) were squamous cell carcinoma (10 cases), undifferentiated carcinoma (7), adenocarcinoma (6), small cell carcinoma (5) and large cell carcinoma (2). The most frequent clinical presentation was as a solitary nodule (16 cases), and the most frequent site was the head (13 cases). Cutaneous metastases were present at the time of diagnosis of the lung primary tumour in 66% of cases. Skin biopsy might be helpful to establish the histological type of tumour, and thus help with therapeutic decision-making. Cutaneous metastases from lung cancer remain a poor prognostic feature.