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1.
Rev Esp Enferm Dig ; 115(7): 396-397, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-36353961

RESUMO

We report a case of a patient accidentally diagnosed with an esophageal lesion compatible (histologically and immunohistochemically) with epithelioid melanoma. The skin examination did not reveal any evidence of melanoma and the patient was diagnosed with primary malignant melanoma of the esophagus. It's a very rare tumour. The majority of melanocytic lesions of the gastrointestinal tract are presumably secondary to a cutaneous melanoma and in order to discard this, a thorough skin examination is needed. Diagnosis is based on endoscopic image, histological data and especially on immunohistochemical evaluation. Primary malignant melanoma has a very poor prognosis as it usually presents distant metastasis when diagnosed. Surgery (with or without associated immunotherapy) remains the base of treatment in absence of advanced disease.


Assuntos
Neoplasias Esofágicas , Melanoma , Neoplasias Cutâneas , Humanos , Melanoma/diagnóstico por imagem , Melanoma/cirurgia , Neoplasias Cutâneas/diagnóstico por imagem , Neoplasias Esofágicas/cirurgia , Melanoma Maligno Cutâneo
3.
Eur J Case Rep Intern Med ; 8(3): 002247, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33987111

RESUMO

Thrombosis associated with pacemaker leads is extremely rare, although the literature on this subject is scarce. A clinical case is reported, describing this condition and its clinical presentation, the complementary tests for establishing the diagnosis and the available therapeutic options. LEARNING POINTS: Thrombosis associated with pacemaker leads is extremely rare.The different causes that contribute to thrombosis all have Virchow's triad (blood stasis, endothelial injury/dysfunction and hypercoagulability) in common.Transthoracic and/or transoesophageal Doppler echocardiography is the gold standard for establishing the diagnosis, while the treatment options are anticoagulation, thrombolysis and surgical or endovascular embolectomy.

4.
Clin Neuropathol ; 40(1): 26-35, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33040839

RESUMO

Craniopharyngiomas (CPs) are histologically benign tumors that are associated with high levels of morbidity. Two clinicopathological variants - adamantinomatous (ACP) and papillary (PCP) - have been described. They differ in their molecular features, whereby activating mutations in BRAF (V600E) and CTNNB1 genes characterize PCP and ACP, respectively. Recently, both variants have been shown to express elevated PD-L1 protein expression, but ACP also exhibited tumor cell-intrinsic PD-1 expression. In this study we analyze these molecular alterations in 52 cases with a long follow-up and examine their associations with immunohistochemical and clinical characteristics. ACPs comprise 73.1% of cases, while 21.2% are PCPs. Aberrant nuclear immunoreactivity for ß-catenin was observed in all ACPs. BRAF p.V600E mutations were observed in 90.9% of PCPs. Only one ACP case featured both alterations. Both types of CP exhibited strong nuclear staining for p63 with diffuse and basal distribution. ACP and PCP consistently expressed PD-L1, most in a substantial percentage of tumor cells, with a distinctive spatial distribution of expression in each subtype; only ACP demonstrated PD-1 expression. There was no evidence of differences in clinical prognosis between ACPs and PCPs. The identification of hallmark molecular signatures in the two CP variants is useful for sub-categorization in routine histopathology reporting. It is also pertinent to personalized therapy and for the development of improved non-invasive therapeutic strategies in this disease.


Assuntos
Craniofaringioma/diagnóstico , Craniofaringioma/genética , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/genética , Proteínas Proto-Oncogênicas B-raf/genética , beta Catenina/genética , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Estudos de Coortes , Craniofaringioma/mortalidade , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Mutação , Neoplasias Hipofisárias/mortalidade , Prognóstico , Espanha , Taxa de Sobrevida , Adulto Jovem
5.
Rev. esp. patol ; 52(3): 202-204, jul.-sept. 2019. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-191938

RESUMO

El hematoma perirrenal espontáneo (síndrome de Wünderlich) es una rara entidad que requiere atención urgente. Las causas más frecuentes suelen ser las neoplasias renales (principalmente el angiomiolipoma renal) y las enfermedades vasculares (vasculitis), pero la asociación de estas en la etiopatogenia del síndrome de Wünderlich es infrecuente. Presentamos el caso de una mujer con historia de angiomiolipomas renales en el contexto de una esclerosis tuberosa previamente conocida que desarrolla un síndrome de Wünderlich asociado a vasculitis de vaso mediano, con endometriosis intratumoral, hallazgo inusual en neoplasias extragonadales


Spontaneous perirenal hematoma or Wünderlich syndrome is a rare entity that requires urgent attention. The most frequent causes are renal neoplasms, mainly renal angiomyolipoma, and vascular diseases (vasculitis). We present a case of a woman with a history of renal angiomyolipomas associated with tuberous sclerosis complex, who developed Wünderlich's syndrome associated with medial vessel vasculitis as well as an uncommon instance of intratumoral endometriosis


Assuntos
Humanos , Feminino , Adulto , Hematoma/patologia , Angiomiolipoma/patologia , Endometriose/patologia , Neoplasias Renais/patologia , Vasculite/patologia , Esclerose Tuberosa/complicações , Artéria Renal/patologia
6.
Rev Esp Patol ; 52(3): 202-204, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31213263

RESUMO

Spontaneous perirenal hematoma or Wünderlich syndrome is a rare entity that requires urgent attention. The most frequent causes are renal neoplasms, mainly renal angiomyolipoma, and vascular diseases (vasculitis). We present a case of a woman with a history of renal angiomyolipomas associated with tuberous sclerosis complex, who developed Wünderlich's syndrome associated with medial vessel vasculitis as well as an uncommon instance of intratumoral endometriosis.


Assuntos
Angiomiolipoma/complicações , Endometriose/complicações , Hematoma/complicações , Nefropatias/complicações , Neoplasias Renais/complicações , Vasculite/complicações , Adulto , Feminino , Humanos , Necrose , Síndrome , Vasculite/patologia
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