Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 11 de 11
Filtrar
1.
Am J Dermatopathol ; 42(9): 700-705, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32568842

RESUMEN

Muir-Torre syndrome (MTS) is a rare autosomal dominant condition characterized by the presence of at least one cutaneous sebaceous tumor and one visceral malignancy, arising mostly from the gastrointestinal tract. We present the case of a 63-year-old man with several cutaneous and visceral neoplasias in the context of MTS, and a pelvic lymph node lesion diagnosed initially as metastatic sebaceous carcinoma, but later identified as metastasis from a newly diagnosed prostatic adenocarcinoma. Histological similarities between these 2 lesions are discussed. A systematic literature review was conducted evaluating all published cases of patients with MTS in which metastases were reported. Eighteen articles were included in the final synthesis, representing 20 patients with a total of 26 metastases. Seventeen patients (85%) exhibited metastases originating from MTS-related neoplasms, whereas only 2 patients (11%) exhibited metastases from concomitant malignancies. Of the 85% of patients with metastases from MTS-related malignancies, most originated from noncutaneous sources (78% from visceral neoplasms and 22% from sebaceous carcinomas). When stratifying according to metastases, 23 cases (88%) originated from MTS-related lesions, whereas only 3 (12%) originated from unrelated malignancies. Our findings thus demonstrate that most metastases found in MTS patients (88%) do indeed originate from MTS-related neoplasms. Nevertheless, it remains imperative that a broad differential diagnosis is maintained when assessing a novel lesion, to avoid misdiagnoses, as in the present case, with significant therapeutic and prognostic implications.


Asunto(s)
Adenocarcinoma/secundario , Síndrome de Muir-Torre/patología , Neoplasias de la Próstata/patología , Neoplasias de las Glándulas Sebáceas/patología , Adenocarcinoma/química , Adenocarcinoma/terapia , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores de Tumor/análisis , Biopsia , Toma de Decisiones Clínicas , Errores Diagnósticos , Femenino , Humanos , Inmunohistoquímica , Metástasis Linfática , Masculino , Persona de Mediana Edad , Síndrome de Muir-Torre/metabolismo , Síndrome de Muir-Torre/terapia , Valor Predictivo de las Pruebas , Neoplasias de la Próstata/química , Neoplasias de la Próstata/terapia , Neoplasias de las Glándulas Sebáceas/química , Neoplasias de las Glándulas Sebáceas/terapia
2.
Pathology ; 56(6): 854-864, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-38906758

RESUMEN

Vulvar and vaginal melanomas (VVMs) are rare and aggressive malignancies with limited prognostic models available and there is no standard reporting protocol. VVMs were selected from six tertiary Canadian hospitals from 2000-2021, resected from patients aged ≥18 years, with 6 months or longer follow-up data, and confirmation of melanocytic differentiation by at least two immunohistochemical markers. Cases were reviewed by pathologists to identify histological biomarkers. Survival outcomes were tested with Kaplan-Meier log-rank, univariate Cox, and multivariate Cox regression. There were 79 VVMs with median follow-up at 26 months. Univariate analysis revealed that tumour necrosis, tumour ulceration, positive lymph nodes, and metastasis at diagnosis were significantly associated with disease-specific mortality, progression, and metastasis. Multivariate analysis identified tumour necrosis as an independent prognostic factor for disease-specific mortality (HR 4.803, 95% CI 1.954-11.803, p<0.001), progression (HR 2.676, 95% CI 1.403-5.102, p=0.003), and time-to-metastasis for non-metastatic patients at diagnosis (HR 3.761, 95%CI 1.678-8.431, p=0.001). Kaplan-Meier survival analyses demonstrated that tumour necrosis was a poor prognostic factor for disease-specific, progression-free, and metastasis-free survival (p<0.001 for all comparisons). Vaginal melanomas displayed decreased survival compared to vulvar or clitoral melanomas. This study identifies tumour necrosis as an independent prognostic factor for VVMs. Vaginal melanomas specifically showed worse survival outcomes compared to vulvar or clitoral melanomas, consistent with previously reported findings in the literature, emphasising the importance of differentiating between these primary tumour epicentres for prognostication and treatment planning in the care of genital melanoma patients.


Asunto(s)
Melanoma , Necrosis , Neoplasias Vaginales , Neoplasias de la Vulva , Humanos , Femenino , Melanoma/patología , Melanoma/mortalidad , Melanoma/diagnóstico , Neoplasias de la Vulva/patología , Neoplasias de la Vulva/mortalidad , Neoplasias Vaginales/patología , Neoplasias Vaginales/mortalidad , Neoplasias Vaginales/diagnóstico , Pronóstico , Persona de Mediana Edad , Anciano , Adulto , Anciano de 80 o más Años , Estimación de Kaplan-Meier , Vulva/patología
3.
SAGE Open Med Case Rep ; 11: 2050313X231163630, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37025247

RESUMEN

Intravascular diffuse large B-cell lymphoma is an exceedingly rare subtype of B-cell lymphomas. This cancer is often associated with poor prognosis and can be lethal if left untreated. Intravascular diffuse large B-cell lymphoma is divided into three variants: the 'classical variant', the hemophagocytic syndrome-associated variant or 'Asian variant', and the 'cutaneous variant', according to the clinical presentation and affected organs. We present a unique case of 'classic variant' intravascular diffuse large B-cell lymphoma with cutaneous findings, peripheral nervous system involvement and acquired ichthyosis in a patient of Asian descent. This case highlights the importance of a prompt dermatology consultation in the diagnosis of intravascular diffuse large B-cell lymphoma. As bone marrow biopsy is often negative, clinicians must recognize the cutaneous findings and acknowledge that skin biopsy can be an essential tool to establish the diagnosis rapidly. Additional finding making this case unique is the concurrent presence of acquired ichthyosis, which has only been previously reported in one case of intravascular diffuse large B-cell lymphoma.

4.
SAGE Open Med Case Rep ; 11: 2050313X231212988, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38022853

RESUMEN

Cutaneous angiosarcomas are rare soft tissue tumours originating from hematogenous vasculature that are aggressive and carry a poor prognosis. We describe the case of a 73-year-old man with a low-grade well-differentiated angiosarcoma. Our case distinguishes itself from those previously reported in the slow progression and important delay to the presentation of 30 months and survival time of 5.5 years. Additionally, its severe clinical appearance (T2 stage) but milder pathological picture (T1 stage) is very uncommon. A repeat biopsy is warranted when results are inconclusive and there is a high clinical suspicion of angiosarcoma.

5.
SAGE Open Med Case Rep ; 10: 2050313X221091600, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35449527

RESUMEN

Epidermolysis bullosa acquisita is a rare autoimmune disease involving cutaneous blistering and scarring associated with collagen VII autoantibodies. Similarly, collagen VII autoantibodies are present in the majority of Crohn's disease patients and approximately a quarter of epidermolysis bullosa acquisita patients have coexisting Crohn's disease. Treatment options for epidermolysis bullosa acquisita are limited and are largely ineffective. Here, we describe a 36-year-old female with a history of Crohn's disease presenting with a 7-year history of severe blistering and scarring of acral surfaces. Diagnostic workup revealed subepidermal cleavage on skin biopsy and elevated serum collagen VII autoantibodies, indicative of epidermolysis bullosa acquisita. She was given ustekinumab for her coexisting Crohn's disease and, afterwards, her epidermolysis bullosa acquisita resolved as evidenced by a lack of new blisters or scarring. Further studies are required to evaluate the effects of ustekinumab on epidermolysis bullosa acquisita.

6.
Sci Immunol ; 7(70): eabi5072, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-35363543

RESUMEN

Melanoma is an immunogenic cancer with a high response rate to immune checkpoint inhibitors (ICIs). It harbors a high mutation burden compared with other cancers and, as a result, has abundant tumor-infiltrating lymphocytes (TILs) within its microenvironment. However, understanding the complex interplay between the stroma, tumor cells, and distinct TIL subsets remains a substantial challenge in immune oncology. To properly study this interplay, quantifying spatial relationships of multiple cell types within the tumor microenvironment is crucial. To address this, we used cytometry time-of-flight (CyTOF) imaging mass cytometry (IMC) to simultaneously quantify the expression of 35 protein markers, characterizing the microenvironment of 5 benign nevi and 67 melanomas. We profiled more than 220,000 individual cells to identify melanoma, lymphocyte subsets, macrophage/monocyte, and stromal cell populations, allowing for in-depth spatial quantification of the melanoma microenvironment. We found that within pretreatment melanomas, the abundance of proliferating antigen-experienced cytotoxic T cells (CD8+CD45RO+Ki67+) and the proximity of antigen-experienced cytotoxic T cells to melanoma cells were associated with positive response to ICIs. Our study highlights the potential of multiplexed single-cell technology to quantify spatial cell-cell interactions within the tumor microenvironment to understand immune therapy responses.


Asunto(s)
Melanoma , Humanos , Citometría de Imagen , Linfocitos Infiltrantes de Tumor , Linfocitos T Citotóxicos , Microambiente Tumoral
7.
Cancers (Basel) ; 13(9)2021 May 10.
Artículo en Inglés | MEDLINE | ID: mdl-34068774

RESUMEN

Targeted therapy has been developed through an in-depth understanding of molecular pathways involved in the pathogenesis of melanoma. Approximately ~50% of patients with melanoma have tumors that harbor a mutation of the BRAF oncogene. Certain clinical features have been identified in BRAF-mutated melanomas (primary lesions located on the trunk, diagnosed in patients <50, visibly pigmented tumors and, at times, with ulceration or specific dermatoscopic features). While BRAF mutation testing is recommended for stage III-IV melanoma, guidelines differ in recommending mutation testing in stage II melanoma patients. To fully benefit from these treatment options and avoid delays in therapy initiation, advanced melanoma patients harboring a BRAF mutation must be identified accurately and quickly. To achieve this, clear definition and implementation of BRAF reflex testing criteria/methods in melanoma should be established so that patients with advanced melanoma can arrive to their first medical oncology appointment with a known biomarker status. Reflex testing has proven effective for a variety of cancers in selecting therapies and driving other medical decisions. We overview the pathophysiology, clinical presentation of BRAF-mutated melanoma, current guidelines, and present recommendations on BRAF mutation testing. We propose that reflex BRAF testing should be performed for every melanoma patient with stages ≥IIB.

8.
Int J Cardiol ; 288: 65-67, 2019 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-30808604

RESUMEN

BACKGROUND: Sudden death is the leading cause of mortality in patients with transposition of the great arteries (TGA) and atrial switch surgery. Understanding underlying mechanisms could contribute to identifying high-risk patients and preventing such catastrophic deaths. METHODS: A total of 144 adults (≥18 years) with TGA and atrial switch surgery were followed at our adult congenital center since 1989. Four patients were excluded: two with double-outlet right ventricles and two with subsequent arterial switch surgery in childhood. RESULTS: Of the remaining 140 patients, age 37.6 ±â€¯7.8 years, 37.1% female, 8 (6%) had a cardiac arrest of presumed arrhythmic etiology of whom 3 were resuscitated. The arrests occurred in 3 women and 5 men at age 30.5 ±â€¯8.6 (range 22 to 50) years. None had established coronary artery disease, sustained ventricular arrhythmias, or syncope. Four (50%) had atrial arrhythmias and 6 (75%) had at least moderate systemic right ventricular dysfunction. For 5 patients in whom circumstances surrounding the arrests were documented, 3 occurred on exertion, 1 after consuming recreational methamphetamine, and 1 in the context of an atrial tachyarrhythmia. Autopsies were performed in 2 of 5 patients. Both revealed acute massive myocardial infarction of the hypertrophied systemic right ventricle with normal coronary arteries and chronic subendocardial ischemic lesions. CONCLUSION: This is the first report to provide histopathological evidence in support of a myocardial ischemia hypothesis as a cause of sudden death in this patient population, despite the absence of coronary atherosclerosis.


Asunto(s)
Operación de Switch Arterial/efectos adversos , Vasos Coronarios/anatomía & histología , Muerte Súbita Cardíaca/patología , Isquemia Miocárdica/patología , Miocardio/patología , Transposición de los Grandes Vasos/cirugía , Enfermedad Aguda , Adulto , Autopsia , Muerte Súbita Cardíaca/epidemiología , Muerte Súbita Cardíaca/etiología , Femenino , Estudios de Seguimiento , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Isquemia Miocárdica/complicaciones , Quebec/epidemiología , Estudios Retrospectivos , Tasa de Supervivencia/tendencias , Transposición de los Grandes Vasos/diagnóstico , Transposición de los Grandes Vasos/mortalidad , Adulto Joven
10.
JAAD Case Rep ; 5(3): 216-218, 2019 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-30809563
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA