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1.
JACC Case Rep ; 29(2): 102166, 2024 Jan 17.
Artigo em Inglês | MEDLINE | ID: mdl-38264308

RESUMO

A patient was admitted for chest pain with electrocardiographic changes, and cardiac magnetic resonance showed focal myocardial hypertrophy secondary to edema. Combined positron emission tomography and computed tomography corroborated foci of myocardial hypermetabolism, as well as multiple adenopathies consistent with lymphoma in the biopsy. Hypertrophy and edema regressed with chemotherapy.

2.
Cancers (Basel) ; 15(10)2023 May 11.
Artigo em Inglês | MEDLINE | ID: mdl-37345053

RESUMO

The voltage-gated potassium channel Kv1.3 plays a pivotal role in a myriad of biological processes, including cell proliferation, differentiation, and apoptosis. Kv1.3 undergoes fine-tuned regulation, and its altered expression or function correlates with tumorigenesis and cancer progression. Moreover, posttranslational modifications (PTMs), such as phosphorylation, have evolved as rapid switch-like moieties that tightly modulate channel activity. In addition, kinases are promising targets in anticancer therapies. The diverse serine/threonine and tyrosine kinases function on Kv1.3 and the effects of its phosphorylation vary depending on multiple factors. For instance, Kv1.3 regulatory subunits (KCNE4 and Kvß) can be phosphorylated, increasing the complexity of channel modulation. Scaffold proteins allow the Kv1.3 channelosome and kinase to form protein complexes, thereby favoring the attachment of phosphate groups. This review compiles the network triggers and signaling pathways that culminate in Kv1.3 phosphorylation. Alterations to Kv1.3 expression and its phosphorylation are detailed, emphasizing the importance of this channel as an anticancer target. Overall, further research on Kv1.3 kinase-dependent effects should be addressed to develop effective antineoplastic drugs while minimizing side effects. This promising field encourages basic cancer research while inspiring new therapy development.

3.
Cancers (Basel) ; 15(12)2023 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-37370803

RESUMO

Soft tissue sarcomas (STS) are an uncommon and biologically heterogeneous group of tumors arising from mesenchymal cells. The incidence is estimated at five cases per 100,000 people per year. Retroperitoneal sarcomas (RPS) account for 10-15% of all STS, and their management depends on their anatomical characteristics and histotype. Due to their very low incidence, it is recommended that RPS be treated in reference centers and evaluated by an experienced multidisciplinary team (MDT). In Spain, the Spanish Group for Research in Sarcomas (GEIS) brings together experts from various specialties to promote research on sarcomas and improve treatment results. This paper summarizes the GEIS recommendations for the diagnosis, treatment, and follow-up of patients with RPS.

4.
Rev Esp Patol ; 56(2): 119-123, 2023.
Artigo em Espanhol | MEDLINE | ID: mdl-37061238

RESUMO

Giant cell tumour of bone (GCTOB) accounts for 4-5% of all primary bone tumours and occurs most frequently in females between 20 and 45 years old. It is found in the epiphyses of the long bones, vertebral bodies and flat bones. We report the case of a 31-year-old woman who presented with a one month history of thoracic pain. On examination, a mass was found in the right breast with signs of an ipsilateral pleural effusion. A thoracic CAT scan revealed an infiltrating mass which was subsequently biopsied and a GCTOB was diagnosed. Due to the localization and the morphology, a wide range of differential diagnoses were considered. Genetic studies detected a mutation of the gene H3F3A, supporting the original diagnosis. The patient underwent treatment with denosumab followed by surgical resection of the mass. The histopathology of the tumour revealed various histological changes which were a source of diagnostic pitfalls.


Assuntos
Conservadores da Densidade Óssea , Neoplasias Ósseas , Dor no Peito , Denosumab , Tumor de Células Gigantes do Osso , Humanos , Feminino , Adulto , Tumor de Células Gigantes do Osso/tratamento farmacológico , Tumor de Células Gigantes do Osso/patologia , Neoplasias Ósseas/tratamento farmacológico , Neoplasias Ósseas/patologia , Dor no Peito/diagnóstico por imagem , Dor no Peito/etiologia , Biópsia , Tomografia Computadorizada por Raios X , Denosumab/uso terapêutico , Conservadores da Densidade Óssea/uso terapêutico , Resultado do Tratamento
5.
Int J Mol Sci ; 22(14)2021 Jul 13.
Artigo em Inglês | MEDLINE | ID: mdl-34299133

RESUMO

Solitary fibrous tumor is a rare subtype of soft-tissue sarcoma with a wide spectrum of histopathological features and clinical behaviors, ranging from mildly to highly aggressive tumors. The defining genetic driver alteration is the gene fusion NAB2-STAT6, resulting from a paracentric inversion within chromosome 12q, and involving several different exons in each gene. STAT6 (signal transducer and activator of transcription 6) nuclear immunostaining and/or the identification of NAB2-STAT6 gene fusion is required for the diagnostic confirmation of solitary fibrous tumor. In the present study, a new gene fusion consisting of Nuclear Factor I X (NFIX), mapping to 19p13.2 and STAT6, mapping to 12q13.3 was identified by targeted RNA-Seq in a 74-year-old female patient diagnosed with a deep-seated solitary fibrous tumor in the pelvis. Histopathologically, the neoplasm did not display nuclear pleomorphism or tumor necrosis and had a low proliferative index. A total of 378 unique reads spanning the NFIXexon8-STAT6exon2 breakpoint with 55 different start sites were detected in the bioinformatic analysis, which represented 59.5% of the reads intersecting the genomic location on either side of the breakpoint. Targeted RNA-Seq results were validated by RT-PCR/ Sanger sequencing. The identification of a new gene fusion partner for STAT6 in solitary fibrous tumor opens intriguing new hypotheses to refine the role of STAT6 in the sarcomatogenesis of this entity.


Assuntos
Fusão Gênica , Fatores de Transcrição NFI/genética , Proteínas de Fusão Oncogênica/genética , Fator de Transcrição STAT6/genética , Tumores Fibrosos Solitários/genética , Tumores Fibrosos Solitários/patologia , Idoso , Feminino , Humanos , Prognóstico
6.
Pediatr Dermatol ; 38(2): 516-517, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33486776

RESUMO

The net-like superficial lymphatic malformation (LM) is a newly described entity with distinctive clinical, dermoscopic, and histologic characteristics. Clinical picture consists of red to purplish macules with a finely reticulated pattern of vascular structures. Dermoscopy shows arborizing telangiectatic vessels. Histology is characterized by a vascular proliferation composed of thin-walled vessels, located in the upper dermis, that stains positive with podoplanin (D2-40). We report a new case of LM with an additional clinical feature, hypopigmented areas.


Assuntos
Anormalidades Linfáticas , Neoplasias Cutâneas , Telangiectasia , Dermoscopia , Humanos
9.
Med. clín (Ed. impr.) ; 143(9): 392-394, nov. 2014. tab
Artigo em Espanhol | IBECS | ID: ibc-128399

RESUMO

Fundamento y objetivo: Coincidiendo con otros autores, hemos observado que algunos pacientes afectados de nefroangioesclerosis hipertensiva (NH) pueden presentar proteinuria de rango nefrótico. Comparamos las características clínicas y evolutivas diferenciales de estos pacientes con los de otras enfermedades glomerulares. Material y método: Se comparan pacientes biopsiados por proteinuria nefrótica con diagnóstico de NH (casos) frente a otro tipo de enfermedad glomerular (controles). Resultados: Un 5,1% de las biopsias correspondían a diagnóstico de NH. Las características de los casos y controles fueron, respectivamente: proteinuria de 4,7 (extremos 3-11,4) frente a 5,5 (3-28,1) g/24 h/1,73 m2 (p = NS); albúmina plasmática media (DE) de 39,5 (6,4) frente a 29,4 (10) g/dl (p = 0,001); edema grave en 10 frente a 63% de los casos; y edad de 58,8 (12,6) frente a 45,5 (19,6) años. Asimismo, los casos presentaron mayor tiempo de evolución de la hipertensión, mayor porcentaje de episodios cardiovasculares previos (39 frente a 16%), con cifras de presión arterial más elevadas (166/90 frente a 133/75 mmHg; p = 0,01) y peor pronóstico renal. Conclusiones: La NH debería incluirse en el diagnóstico diferencial de la proteinuria de rango nefrótico. La ausencia de edemas y la albúmina normal son indicadores clínicos diferenciales que pueden ayudar a la toma de decisiones (AU)


Background and objective: Nephrotic range proteinuria can occur in patients with biopsy proven hypertensive nephrosclerosis (HN). We analysed the differential clinical and evolution characteristics of these patients compared with other glomerular diseases. Material and method: This is a case-control descriptive analysis obtained from the renal pathology registry of our hospital. Clinical features, treatment and evolution of these patients (cases) were compared with nephrotic patients with other glomerular diseases (controls). Results: Five point one percent of biopsies with HN diagnosis. Case/control characteristics were: proteinuria 4.7 [3-11.4] versus 5.5 [3-28.1] g/24 h/1.73 m2 (P = NS). Normal albumin compared with controls (39.5 [6.4] versus 29.4 [10] g/dL; P = .001), significant oedemas only in 10 versus 63% of controls. HN were older (58.8 [12.6] versus 45.5 [19.6] years), had longer hypertension duration before renal biopsy and more previous cardiovascular events (39 versus 16%). Mean blood pressure was higher (166/ 90 versus 133/75 mmHg; P = .01) and had worse renal outcome. Conclusions: HN must be included in the differential diagnosis of nephrotic range proteinuria in hypertensive patients. The absence of oedema and normal serum albumin are distinctive clinical characteristics that can help in decision-making before performing a renal biopsy (AU)


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Proteinúria/diagnóstico , Esclerose/complicações , Esclerose/diagnóstico , Síndrome Nefrótica/complicações , Síndrome Nefrótica/diagnóstico , Hipertensão/complicações , Doença Antimembrana Basal Glomerular/complicações , Doença Antimembrana Basal Glomerular/diagnóstico , Biópsia/instrumentação , Diagnóstico Diferencial , Pressão Arterial , Prognóstico , Biópsia/métodos , Biópsia , Proteinúria/complicações
10.
Med Clin (Barc) ; 143(9): 392-4, 2014 Nov 07.
Artigo em Espanhol | MEDLINE | ID: mdl-24229808

RESUMO

BACKGROUND AND OBJECTIVE: Nephrotic range proteinuria can occur in patients with biopsy proven hypertensive nephrosclerosis (HN). We analysed the differential clinical and evolution characteristics of these patients compared with other glomerular diseases. MATERIAL AND METHOD: This is a case-control descriptive analysis obtained from the renal pathology registry of our hospital. Clinical features, treatment and evolution of these patients (cases) were compared with nephrotic patients with other glomerular diseases (controls). RESULTS: Five point one percent of biopsies with HN diagnosis. Case/control characteristics were: proteinuria 4.7 [3-11.4] versus 5.5 [3-28.1] g/24h/1.73m(2) (P=NS). Normal albumin compared with controls (39.5 [6.4] versus 29.4 [10] g/dL; P=.001), significant oedemas only in 10 versus 63% of controls. HN were older (58.8 [12.6] versus 45.5 [19.6] years), had longer hypertension duration before renal biopsy and more previous cardiovascular events (39 versus 16%). Mean blood pressure was higher (166/90 versus 133/75mmHg; P=.01) and had worse renal outcome. CONCLUSIONS: HN must be included in the differential diagnosis of nephrotic range proteinuria in hypertensive patients. The absence of oedema and normal serum albumin are distinctive clinical characteristics that can help in decision-making before performing a renal biopsy.


Assuntos
Hipertensão Renal/diagnóstico , Nefrite/diagnóstico , Nefroesclerose/diagnóstico , Proteinúria/etiologia , Adulto , Idoso , Estudos de Casos e Controles , Diagnóstico Diferencial , Feminino , Humanos , Hipertensão Renal/complicações , Hipertensão Renal/fisiopatologia , Hipertensão Renal/urina , Masculino , Pessoa de Meia-Idade , Nefrite/complicações , Nefrite/fisiopatologia , Nefrite/urina , Nefroesclerose/complicações , Nefroesclerose/fisiopatologia , Nefroesclerose/urina
11.
Clin Transl Oncol ; 8(8): 594-8, 2006 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-16952848

RESUMO

INTRODUCTION: Gastrointestinal stromal tumours (GIST) are mesenchymal tumours of the digestive tract originated in the interstitial cells of Cajal. They express the tyrosine kinase c-kit (CD117) activity receptor. Mutations in this receptor cause neoplastic development. Curative treatment continues to be radical resection of the tumour and is resistant to commonly employed chemotherapy regimens. Imatinib mesilate is a drug that inhibits c-kit activity expressed by GIST and its activity in these tumours has been demonstrated. MATERIAL AND METHODS: Retrospective study of all cases of leiomyoma, leiomyosarcoma, schwannoma, and stromal or mesenchymal tumors from 1989 to July 2004. C-kit and CD34 proteins were detected at immunohistochemical study in addition to the usual markers for mesenchymal tumours. RESULTS: 49 GISTs were diagnosed, 26 males and 23 females (mean age 64.1). Symptoms were digestive tract bleeding (n = 13), abdominal pain (n = 13), intestinal occlusion (n = 4) and others. The lesion was located in small bowel (n = 22), stomach (n = 19), rectum (n = 3), peritoneum (n = 2), esophagus (n = 1), omentum (n = 1), and retroperitoneum (n = 1). Forty-three of the 49 patients underwent surgery; radical resection was performed in 37 (75.5%) and palliative surgery in the other six (16.2%). Two of the patients that did not undergo surgery received chemotherapy. At the time of study, 28 (57.14%) patients remained alive, 23 (46.9%) of whom were disease- free and five (10.2%) were not. Nineteen (38.7%) patients died. CONCLUSIONS: The results of our series are similar to the others published. Before the year 2001, surgery was the only successful option for the GIST. Surgical resection continues being the best treatment to definitively cure this disease. Imatinib is used to treat not only resectable tumours, but even to allow the possibility to make a subsequent rescue surgery. On the other hand, Imatinib is used in the treatment of the metastatic disease.


Assuntos
Tumores do Estroma Gastrointestinal , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Tumores do Estroma Gastrointestinal/diagnóstico , Tumores do Estroma Gastrointestinal/mortalidade , Tumores do Estroma Gastrointestinal/patologia , Tumores do Estroma Gastrointestinal/terapia , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Resultado do Tratamento
12.
Clin. transl. oncol. (Print) ; 8(8): 594-598, ago. 2006. tab, graf
Artigo em En | IBECS | ID: ibc-047718

RESUMO

No disponible


Introduction. Gastrointestinal stromal tumours(GIST) are mesenchymal tumours of the digestivetract originated in the interstitial cells of Cajal. Theyexpress the tyrosine kinase c-kit (CD117) activityreceptor. Mutations in this receptor cause neoplasticdevelopment. Curative treatment continues to beradical resection of the tumour and is resistant tocommonly employed chemotherapy regimens. Imatinibmesilate is a drug that inhibits c-kit activityexpressed by GIST and its activity in these tumourshas been demonstrated.Material and methods. Retrospective study of allcases of leiomyoma, leiomyosarcoma, schwannoma,and stromal or mesenchymal tumors from 1989to July 2004. C-kit and CD34 proteins were detectedat immunohistochemical study in addition to theusual markers for mesenchymal tumours.Results. 49 GISTs were diagnosed, 26 males and 23females (mean age 64.1). Symptoms were digestivetractbleeding (n = 13), abdominal pain (n = 13), intestinalocclusion (n = 4) and others. The lesion waslocated in small bowel (n = 22), stomach (n = 19),rectum (n = 3), peritoneum (n = 2), esophagus (n = 1),omentum (n = 1), and retroperitoneum (n = 1).Forty-three of the 49 patients underwent surgery;radical resection was performed in 37 (75.5%) andpalliative surgery in the other six (16.2%). Two ofthe patients that did not undergo surgery receivedchemotherapy. At the time of study, 28 (57.14%) patientsremained alive, 23 (46.9%) of whom were disease-free and five (10.2%) were not. Nineteen (38.7%)patients died.Conclusions. The results of our series are similar tothe others published. Before the year 2001, surgerywas the only successful option for the GIST. Surgicalresection continues being the best treatmentto definitively cure this disease. Imatinib is used totreat not only resectable tumours, but even to allowthe possibility to make a subsequent rescue surgery.On the other hand, Imatinib is used in the treatmentof the metastatic disease


Assuntos
Masculino , Feminino , Adulto , Idoso , Pessoa de Meia-Idade , Humanos , Células Estromais/patologia , Neoplasias Gastrointestinais/epidemiologia , Estudos Retrospectivos , Intervalo Livre de Doença
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