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1.
Rev Esp Enferm Dig ; 115(7): 396-397, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-36353961

RESUMEN

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.


Asunto(s)
Neoplasias Esofágicas , Melanoma , Neoplasias Cutáneas , Humanos , Melanoma/diagnóstico por imagen , Melanoma/cirugía , Neoplasias Cutáneas/diagnóstico por imagen , Neoplasias Esofágicas/cirugía , Melanoma Cutáneo Maligno
2.
Clin Neuropathol ; 40(1): 26-35, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33040839

RESUMEN

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.


Asunto(s)
Craneofaringioma/diagnóstico , Craneofaringioma/genética , Neoplasias Hipofisarias/diagnóstico , Neoplasias Hipofisarias/genética , Proteínas Proto-Oncogénicas B-raf/genética , beta Catenina/genética , Adolescente , Adulto , Anciano , Niño , Preescolar , Estudios de Cohortes , Craneofaringioma/mortalidad , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Mutación , Neoplasias Hipofisarias/mortalidad , Pronóstico , España , Tasa de Supervivencia , Adulto Joven
3.
Eur J Case Rep Intern Med ; 8(3): 002247, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33987111

RESUMEN

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.
Rev Esp Patol ; 52(3): 202-204, 2019.
Artículo en Español | MEDLINE | ID: mdl-31213263

RESUMEN

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.


Asunto(s)
Angiomiolipoma/complicaciones , Endometriosis/complicaciones , Hematoma/complicaciones , Enfermedades Renales/complicaciones , Neoplasias Renales/complicaciones , Vasculitis/complicaciones , Adulto , Femenino , Humanos , Necrosis , Síndrome , Vasculitis/patología
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