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Introducción: El cáncer de endometrio ocupa el sexto lugar en incidencia del cáncer en mujeres. La caracterización molecular de este cáncer permite optimizar la estratificación de riesgo para mejorar el tratamiento de las pacientes. Objetivo: Determinar el perfil molecular TCGA de pacientes con cáncer de endometrio en Bogotá, D.C., Colombia. Método: Estudio descriptivo en una cohorte de pacientes con cáncer de endometrio. Las mutaciones en los exones 9 a 14 del gen POLE fueron identificadas mediante amplificación por reacción en cadena de la polimerasa, seguida de secuenciación Sanger y análisis bioinformático. La expresión de las proteínas MMR y p53 se identificó mediante inmunohistoquímica. Resultados: Se incluyeron 40 pacientes con una mediana de edad de 66 años. El 15% presentaron mutaciones en el dominio exonucleasa de POLE. El 32% de las pacientes que no presentaron mutaciones manifestaron deficiencia en el sistema MMR. El 43,47% de las pacientes sin mutaciones en POLE ni alteración del sistema MMR presentaron alteración de la proteína p53. Conclusiones: La población de cáncer de endometrio analizada presenta un perfil molecular TCGA similar a lo reportado para otras poblaciones.
Introduction: Endometrial cancer ranks sixth in cancer incidence among women. Its molecular characterization allows for a more precise risk stratification with the aim of improving patient treatment. Objective: To determine the TCGA molecular profile of patients with endometrial cancer in Bogota, Colombia. Method: A descriptive study of a cohort of patients with endometrial cancer. The expression of MMR proteins and p53 was identified through immunohistochemistry. Mutations in exons 9 to 14 of the POLE gene were identified through polymerase chain reaction amplification, followed by Sanger sequencing and bioinformatic analysis. Results: Forty patients were included in the study, with a median age of 66 years, 15% of them exhibited mutations in the exonuclease domain of POLE, while 32% of patients without mutations showed deficiency in the MMR system. Forty three percent of patients without mutations in POLE or MMR alterations showed aberrant p53 protein expression. Conclusions: The analyzed population of endometrial cancer presents a TCGA molecular profile similar to that reported for other populations.
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Humanos , Feminino , Pessoa de Meia-Idade , Idoso , Neoplasias do Endométrio/genética , Imuno-Histoquímica , Reação em Cadeia da Polimerase , Estudos Transversais , Estudos Retrospectivos , Genes p53/genética , Neoplasias do Endométrio/diagnóstico , Neoplasias do Endométrio/patologia , Análise de Sequência de DNA , Colômbia , Medição de Risco , DNA Polimerase II , Reparo de Erro de Pareamento de DNA , Proteínas de Ligação a Poli-ADP-Ribose , MutaçãoRESUMO
Cutaneous rhabdomyomatous mesenchymal hamartoma (RMH) is a rare benign tumor composed of two or more types of mesenchymal-derived cells. RMHs are generally sporadic and independent, but they can be associated with congenital abnormalities. We report a subcutaneous case of RMH in the sternoclavicular area with two recurrences after complete surgical excision. The course is variable and can range from spontaneous resolution to repeated recurrences.
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Hamartoma/patologia , Rabdomioma/patologia , Dermatopatias/patologia , Articulação Esternoclavicular , Pré-Escolar , Feminino , Hamartoma/cirurgia , Humanos , Recidiva Local de Neoplasia , Rabdomioma/cirurgia , Tela Subcutânea/patologiaRESUMO
BACKGROUND: Transient myeloproliferative disorder (TMD) affects up to 10% of patients with Down syndrome (DS). A small proportion of newborns are asymptomatic and only manifest circulating blast cells, with or without leukocytosis, while others present with hepatomegaly, splenomegaly, serous effusions, and liver fibrosis. Few cases in the literature also have skin manifestations, described as crusted, erythematous, vesiculopustular eruptions occurring mainly on the face, with spreading to the trunk and extremities. MATERIALS AND METHODS: Four patients with DS and TMD were studied due to the presence of cutaneous eruptions. Systemic involvement, work-up, and follow-up were documented for each patient. Our results were compared with the previously reported cases. RESULTS: All patients were males, with ages ranging from 1 to 20 days at the time of diagnosis. In three patients, the eruption was papulopustular, and two of them also had vesicles. In one patient, lesions resembled bullous impetigo. In all, the lesions involved the face, followed by the extremities in three and the trunk in two patients. Pathergy phenomena was present in one patient. Hepatomegaly and a leukemoid reaction were present in all patients. Bone marrow showed an M7 immunophenotype in three patients and normal cellularity in one. Follow-up ranged from 2 to 11 months, during which the patients were healthy. CONCLUSIONS: Recognition of the cutaneous eruptions associated with TMD in neonate patients with DS may lead to early diagnosis and avoidance of unnecessary chemotherapy. However, because leukemia may develop later, careful follow-up is mandatory in all cases.
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Síndrome de Down/patologia , Doenças do Recém-Nascido/patologia , Transtornos Mieloproliferativos/patologia , Dermatopatias Vesiculobolhosas/patologia , Pele/patologia , Síndrome de Down/complicações , Humanos , Recém-Nascido , Doenças do Recém-Nascido/etiologia , Masculino , Transtornos Mieloproliferativos/complicações , Dermatopatias Vesiculobolhosas/etiologiaRESUMO
Introducción. El síndrome de Hermansky-Pudlak es un padecimiento genético caracterizado por albinismo y hemorragias, en grado variable, por alteraciones en la estructura de las plaquetas. Puede presentar alteraciones pulmonares, intestinales o renales. En la literatura se han reportado varias alteraciones genéticas relacionadas a este síndrome. Casos clínicos. Se presentan dos casos. El primero se trató de un adolescente de sexo masculino con albinismo mucocutáneo y afección a nivel renal. Los episodios de sangrado iniciaron después de ser sometido a venopunciones y estudios invasivos. Desarrolló, incluso, un hematoma perirrenal. Después de una sepsis de foco abdominal, presentó hemoperitoneo y hemorragia pulmonar, que precipitó su muerte; el diagnóstico se realizó post mórtem. El segundo caso se trató de una paciente de sexo femenino en quien, desde el periodo de lactancia, se identificó el síndrome por el albinismo mucocutáneo, los episodios de sangrado y los datos de fibrosis pulmonar progresiva, lo que ha limitado su capacidad vital. Conclusiones. El diagnóstico del síndrome, así como el abordaje correcto y temprano pueden evitar el desarrollo de complicaciones o limitar su evolución. Aún es materia de debate si las alteraciones genéticas descritas se asocian a la expresión de alguna manifestación clínica particular.
Background. Hermansky-Pudlak syndrome is a genetic disorder characterized by albinism and bleeding of varying degrees due to alteration in the structure of the platelets. The disorder may be accompanied by pulmonary, intestinal or kidney involvement. Identification of several genetic alterations in this syndrome has been reported. Case reports. We present two cases: the first of an adolescent male with mucocutaneous albinism and renal involvement. Bleeding episodes started after being subjected to invasive studies and venipunctures, developing a perinephric hematoma. After severe sepsis, the patient developed hemoperitoneum and pulmonary hemorrhage, which precipitated the patient's death. Diagnosis was made postmortem. In the second case, a female patient was diagnosed during infancy due to albinism and bleeding episodes, with progressive pulmonary fibrosis that to date has limited her vital lung capacity. Conclusions. Early diagnosis of the syndrome as well as the correct approach may prevent the development of complications or limit the evolution. It is still under debate whether the genetic alterations described are associated with the expression of any particular clinical manifestation.
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Kimura disease is an uncommon chronic inflammatory condition of unknown etiology and is characterized by painless subcutaneous nodules, usually affecting the head and neck, eosinophilia, and markedly elevated immunoglobulin E levels. Several reports have described the main modalities of treatment; both corticosteroids and surgery have provided good results, but occasionally corticosteroids cannot be tapered as the disease flares up. We report here the case of an 8-year-old boy diagnosed with Kimura disease who was successfully treated with 1 dose of intravenous immunoglobulin as a steroid-sparing agent.
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Hiperplasia Angiolinfoide com Eosinofilia/tratamento farmacológico , Imunoglobulinas Intravenosas/uso terapêutico , Fatores Imunológicos/uso terapêutico , Criança , Humanos , MasculinoRESUMO
Congenital cutaneous angioleiomyoma is an extremely rare benign smooth muscle tumor. We present a case of a firm, painful subcutaneous mass noticed at birth on the left leg that on surgical excision proved to be an angioleiomyoma. Prognosis is good, and recurrences are uncommon. To our knowledge, this is the second report of a congenital angioleiomyoma.
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Angiomioma/diagnóstico , Neoplasias Cutâneas/diagnóstico , Angiomioma/congênito , Angiomioma/patologia , Angiomioma/cirurgia , Feminino , Humanos , Lactente , Prognóstico , Neoplasias Cutâneas/congênito , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/cirurgia , Resultado do TratamentoRESUMO
OBJECTIVE: The aim of this study was to describe the clinicopathologic and immunohistochemical characteristics of 14 cases of central odontogenic fibroma (COF), and the ultrastructural features of 2 of them. STUDY DESIGN: Collaborative retrospective study based on the records of 4 oral pathology diagnostic services in Latin America based on the current World Health Organization classification. RESULTS: There were 7 male and 7 female patients (mean age 31.8 years). Eight tumors occurred in the maxilla and 6 in the mandible. Thirteen cases were epithelium-rich and 1 epithelium-poor COF. Three were classified as hybrid COF with giant cell lesion. Mean size of the hybrid lesions were larger than pure COF (3.8 vs. 2.4 cm). Odontogenic epithelial islands were immunoreactive for cytokeratin (CK) AE1/AE3, CK5, CK14, CK19, and 34BE12 and negative for CK1 and CK18. Langerhans cells positive for S-100 and CD1a were found within the epithelial islands in 6/6 tested cases. CD68 was expressed in the giant cells of the hybrid lesions and in a few mononuclear cells of 2 cases of COF. Ki-67 index was <1% in all cases. In 6 tumors (42.8%), there were small globular eosinophilic droplets within the epithelial islands, which were positive for collagen type IV, and 9/13 cases (69.2%) were focally positive for smooth muscle actin. In addition to fibroblasts, myofibroblastic differentiation was found in the 2 cases studied ultrastructurally. CONCLUSIONS: Immunohistochemistry was useful to confirm the presence of epithelium and to exclude other central fibrous tumors. COF also contains a variable number of mast cells, Langerhans cells, and myofibroblasts, and further studies are needed to better understand the participation of these cells in COF histogenesis.
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Fibroma/patologia , Queratinas/metabolismo , Neoplasias Mandibulares/patologia , Neoplasias Maxilares/patologia , Tumores Odontogênicos/patologia , Adolescente , Adulto , Epitélio/patologia , Feminino , Fibroma/diagnóstico por imagem , Fibroma/metabolismo , Humanos , Imuno-Histoquímica , Queratinas/classificação , Masculino , Neoplasias Mandibulares/diagnóstico por imagem , Neoplasias Mandibulares/metabolismo , Neoplasias Maxilares/diagnóstico por imagem , Neoplasias Maxilares/metabolismo , Pessoa de Meia-Idade , Tumores Odontogênicos/diagnóstico por imagem , Tumores Odontogênicos/metabolismo , Estudos Retrospectivos , Ultrassonografia , Adulto JovemRESUMO
The present study was aimed to assess the effect of protein carbonylation (PC) in hepatic cells and effects of nonsteroidal anti-inflammatory drugs (NSAIDs) on indicators of tissue damage induced by liver ischemia-reperfusion injury (LIRI). Warm ischemia was performed by partial vascular occlusion during 90 min in Wistar rats. In serum, we determined the catalytic activity of Alanine Aminotransferase, Aspartate Aminotransferase, Lacticate Dehydrogenase, and Ornithine Carbamoyltransferase. In liver samples, we studied cellular alterations by means of histologic studies, lipid peroxidation, PC by immunohistochemistry, apoptosis and reactive oxygen species in bile by electron paramagnetic resonance. Based on PC data, sinusoidal endothelial cells (SEC) and Kupffer cells (KC) were the first to exhibit LIRI-associated oxidative damage and prior to parenchymal cells. Administration of piroxicam or meloxicam during the pre-ischemic period produced a highly significant decrease in all studied injury indicators. No significant differences were revealed between the protective action of the two drugs. The data shown here suggest the potential use of NSAIDs such as piroxicam or meloxicam in minimizing ischemic event-caused damage in liver. We also propose that PC may be employed as an adequate tool to assess tissue damage after oxidative stress.
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Carbono/química , Células Endoteliais/citologia , Células de Kupffer/metabolismo , Fígado/metabolismo , Piroxicam/farmacologia , Traumatismo por Reperfusão , Tiazinas/farmacologia , Tiazóis/farmacologia , Alanina Transaminase/metabolismo , Animais , Anti-Inflamatórios não Esteroides/farmacologia , Aspartato Aminotransferases/metabolismo , Humanos , L-Lactato Desidrogenase/metabolismo , Meloxicam , Ornitina Carbamoiltransferase/metabolismo , Estresse Oxidativo , Proteínas/metabolismo , Ratos , Ratos WistarRESUMO
The aims of the present study were to examine whether the pattern of syndecan-1 expression correlates with cellular proliferation index in desmoplastic ameloblastomas (DA), peripheral ameloblastomas (PA) and ameloblastic carcinomas (AC), and to compare with that previously reported for solid (SA) and unicystic (UA) variants of ameloblastoma. Immunohistochemistry was performed for syndecan-1 and Ki-67 in seven ameloblastomas (four DA and three PA) and three AC. Expression of syndecan-1 was related to the histological subtype of tumors and, in the case of malignancy, to lower expression levels observed in AC (22.5%) than in PA (47.5%) or DA (77.5%) (P < 0.05). Syndecan-1 expression correlated inversely with Ki-67 proliferative index: the expression was lower in both types of ameloblastomas (1.5% in DA and 6.4% in PA) than in AC (41.2%; P < 0.05). The present results suggest that the decrease in syndecan-1 expression and increase in the Ki-67 index observed in AC is in accordance with its higher aggressiveness as compared to the rare DA and PA. Interestingly, DA had a lower proliferation index as well as the highest levels of syndecan-1 expression. These data suggest that DA differ from the other types of intraosseous ameloblastomas but more studies are necessary to better understand the role of this protein as a marker in the biological behavior of the epithelial odontogenic neoplasms.
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Ameloblastoma/patologia , Carcinoma/patologia , Neoplasias Maxilomandibulares/patologia , Antígeno Ki-67/biossíntese , Sindecana-1/biossíntese , Ameloblastoma/metabolismo , Carcinoma/metabolismo , Proliferação de Células , Humanos , Imuno-Histoquímica , Neoplasias Maxilomandibulares/metabolismo , PrognósticoRESUMO
Hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by recurrent skin abscesses, recurrent pneumonia with pneumatocele formation, eczema, eosinophilia, and elevated levels of serum IgE. Patients with the autosomal recessive (AR) form of HIES appear to be prone to developing autoimmune diseases. We present two cases of HIES with autoimmune complications; one case was a product of a consanguineous marriage, the other one was a sporadic case. The first patient presented with recurrent episodes of erythema nodosum, warts, bronchiolitis obliterans and thrombocytopenia. The second patient developed glomerulonephritis resulting in endstage renal failure. She later developed malar rash, oral ulcers, cerebral infarcts with vasculitis and positive ANA, anti-dsDNA, and antiphospholipid antibodies. We discuss the dilemma in treating patients who present with both primary immunodeficiency and autoimmunity.
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Doenças Autoimunes/imunologia , Autoimunidade , Síndrome de Job/complicações , Síndrome de Job/imunologia , Criança , Feminino , Humanos , Masculino , MéxicoRESUMO
Las malformaciones arteriovenosas pulmonares (MA VP) son comunicaciones anormales entre las arterias y las venas pulmonares. Las MAVP, están caracterizadas por cortocircuitos de derecha a izquierda de grado variable y el efecto de estas comunicaciones depende del tamaño de los vasos involucrados. Puede presentarse hipoxemia, hipocratismo digital y poliglobulia secundario al cortocircuito intrapulmonar. Presentamos el caso de un paciente femenino de 14 años de edad con MA VP pulmonar, cuyos hallazgos a la exploración física fueron hipocratismo digital y cianosis.
Pulmonary arteriovenous malformations (PVAM) are abnormal communications between pulmonary arteries and pulmonary veins, which are more commonly congenital in nature. Pulmonary arteriovenous fistulae are characterized by right-to-left shunts of variable magnitude; the effect of these communications depends on the size of the vessels involved. Arterial oxygen desaturation, cyanosis, clubbing of the fingers, and polycythemia may occur, secondary to the intrapulmonary shunt. We report the case of a 14-year-old female patient with PA VM; the findings on physical examination were clubbing of her fingers and cyanosis.
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Introducción. Los linfomas cutáneos son procesos linfoproliferativos malignos de células B o T, con una variedad de manifestaciones clínicas, sin que exista enfermedad extracutánea al momento del diagnóstico. Existen reportes de casos de lesiones cutáneas previas, determinadas por fotosensibilidad, que se asocian a linfomas cutáneos. Se presenta el caso de un paciente femenino con diagnóstico de linfoma cutáneo angiocéntrico que semeja hidroa vacciniforme. Caso clínico. Adolescente femenino de 14 años de edad, que ingresó al Hospital General Dr. Aurelio Valdivieso del Estado de Oaxaca en el mes de octubre de 2003. Cuadro actual: 8 meses previos a su ingreso con dermatosis en áreas expuestas al sol, caracterizadas por vesículas y pápulas, que evolucionaron a úlceras y necrosis en miembros torácicos y piernas, con hepatoesplenomegalia y edema centrofacial. La histopatología de la lesión reveló vasculitis angiocéntrica, angiodestructiva, con linfocitos atípicos y paniculitis. Se definió el diagnóstico de linfoma cutáneo angiocéntrico. Se instaló quimioterapia combinada con involución de su dermatosis y compromiso sistémico. Conclusión. El presente caso cumple con criterios clínico e histopatológicos de linfoma cutáneo angiocéntrico, con adecuada respuesta a quimioterapia de combinación, sobre todo basada en antraciclinas.
Introduction. The cutaneous lymphoma is a malignant lymphoproliferative process of B or T, cells with a variety of clinical manifestation without extracutaneous disease at the time of diagnosis. There are case reports in the literature which have associated prior cutaneous injuries, with cutaneous lymphoma as determined by photosensitization. The present case report is of a female patient with diagnosis of cutaneous angiocentric lymphoma which resembled hydroa vacciniform. Case report. Female adolescent 14 year of age who was admitted to Hospital General Dr. Aurelio Valdivieso in the State of Oaxaca, Mexico. Eight months prior to hospital admission she presented dermatosis in areas exposed to the sun, characterized by vesicles, papules which evolved to ulcers and necrosis in arms and legs, she also presented with hepatosplenomegaly and facial edema. The histopatology of the lesions revealed angiodestructive, angiocentric vasculitis with atypical lymphocytes and paniculitis. The diagnosis of angiocentric cutaneous lymphoma was made. The patient was treated with combined chemotherapy with involution of her dermatosis and systemic findings. Conclusion. The present case fulfills the histopathology and clinical criteria of an angiocentric cutaneous lymphoma, with suitable response to combined chemotherapy based on anthracyclines.
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Among 27 pediatric patients with a clinicopathologic diagnosis of discoid lupus erythematosus (DLE), 15 had localized cutaneous lesions and 12 had disseminated lesions. During a mean follow-up period of 36 months, seven patients (26%) developed systemic lupus erythematosus (SLE). Four of these patients were less than 10 years of age. No correlation was found between localized and disseminated lesions and evolution to SLE. Three of four patients with a positive family history for rheumatoid disease developed SLE (p < 0.05). Hyperpigmentation was significantly more frequent (p < 0.04) in children less than 10 years of age. There was a female predominance of 5:1 among patients less than 10 years of age. Our findings suggest that onset of DLE prior to 10 years of age does not indicate a greater risk of developing SLE. The occurrence of localized or disseminated lesions does not seem to influence the outcome.
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Lúpus Eritematoso Discoide/epidemiologia , Lúpus Eritematoso Discoide/patologia , Adolescente , Distribuição por Idade , Biópsia por Agulha , Criança , Pré-Escolar , Estudos de Coortes , Progressão da Doença , Feminino , Seguimentos , Humanos , Imuno-Histoquímica , Imunossupressores/uso terapêutico , Incidência , Lúpus Eritematoso Discoide/tratamento farmacológico , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Lúpus Eritematoso Sistêmico/epidemiologia , Lúpus Eritematoso Sistêmico/patologia , Masculino , México/epidemiologia , Probabilidade , Estudos Retrospectivos , Índice de Gravidade de Doença , Distribuição por Sexo , Resultado do TratamentoRESUMO
Se presentan dos casos de hiperplasia angiolinfoide con eosinofilia. Un hombre de 64 años de edad con una lesión nodular en el canto interno del ojo y una mujer de 35 años con lesiones pápulo-nodulares en región auricular. Se discuten algunas diferencias con la enfermedad de Kimura
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Humanos , Masculino , Feminino , Adulto , Idoso , Hiperplasia Angiolinfoide com Eosinofilia/diagnóstico , Técnicas Histológicas , Hiperplasia Angiolinfoide com Eosinofilia/fisiopatologia , Ásia , Diagnóstico Diferencial , MéxicoRESUMO
Presentamos el caso de una paciente del sexo femenino de 29 años de edad, que tenía en región preauricular derecha un nevo sebáceo de Jadassohn, sobre el que se desarrolló un carcinoma basocelular, poroma ecrino e hidrocistomas apócrinos. La asociación del nevo sebáceo con el poroma ecrino no había sido descrita previamente.