RESUMO
Multiple myeloma is a hematologic disease, which accounts for 15% of hematologic malignancies. The average age of onset is between 65-70 years and is very rare in young patients, as 2% are under 40 years old. We present a case of 36-year-old women with history of 20 pack years (p/y) smoking, who complaints of dyspnea associated with signs of right cardiac overload, anemia, proteinuria, elevated acute phase reactants and spirometry pattern suggestive of moderately-severe restriction and severe drop in diffusing capacity for carbon monoxide (DLCO). Echocardiogram evidence dilated right heart cavities and signs of pulmonary hypertension which is confirmed by right heart catheterization. In search of the etiology we arrive to the diagnosis of multiple myeloma.
Assuntos
Hipertensão Pulmonar/etiologia , Mieloma Múltiplo/complicações , Adulto , Biópsia , Cateterismo Cardíaco , Feminino , Humanos , Hipertensão Pulmonar/patologia , Hipertensão Pulmonar/fisiopatologia , Mieloma Múltiplo/patologia , Mieloma Múltiplo/fisiopatologia , Radiografia TorácicaRESUMO
Erythrosis pigmentosa peribuccalis is an infrequent condition, with fewer than 35 cases reported in the literature, that affects mainly women. It presents as small papules that form a hyperpigmented plaque around the mouth and nose. Little is known about the etiology of this condition, its dermoscopic characteristics have not been described, and no effective treatment has been reported. We report a 15-year-old girl with this rare dermatosis who was successfully managed with daily calcipotriol, weekly topical ivermectin, and strict photoprotection. We also describe for the first time the dermoscopic findings of this entity.
Assuntos
Dermatoses Faciais/diagnóstico , Transtornos da Pigmentação/diagnóstico , Pele/patologia , Adolescente , Calcitriol/análogos & derivados , Calcitriol/uso terapêutico , Fármacos Dermatológicos/uso terapêutico , Dermoscopia/métodos , Diagnóstico Diferencial , Dermatoses Faciais/tratamento farmacológico , Feminino , Humanos , Ivermectina/uso terapêutico , Transtornos da Pigmentação/tratamento farmacológico , Pigmentação da PeleRESUMO
BACKGROUND/OBJECTIVE: Papular epidermal nevus with skyline basal cell layer (PENS) is a recently described type of epidermal nevus with characteristic histopathologic findings, mainly regular, rectangular acanthosis and a well-demarcated basal cell layer with clear palisading and separation between basal cell nuclei and the first row of Malpighian cell nuclei. Although the first reports described randomly distributed lesions appearing sporadically in otherwise healthy patients, cases of Blaschkoid distribution, lesions associated with extracutaneous manifestations, and familial cases have been reported. METHODS: We performed a review of the clinical charts of all patients with histologic diagnosis of PENS in our hospital. We evaluated epidemiologic, clinical, and histologic features. We then reviewed the literature with a particular emphasis on the presence or absence of extra-cutaneous associations. RESULTS: Three patients with PENS are described. One had a single lesion, one had three lesions, and one, a patient with mild developmental delay, a curved penis, and hypospadias, had multiple lesions. CONCLUSION: The probability of having extracutaneous manifestations is 6.3 times as great in individuals with more than four lesions. Therefore these patients may need closer follow-up.
Assuntos
Transformação Celular Neoplásica/patologia , Nevo Pigmentado/patologia , Nevo/epidemiologia , Nevo/patologia , Neoplasias Cutâneas/patologia , Biópsia por Agulha , Pré-Escolar , Dermoscopia/métodos , Feminino , Humanos , Imuno-Histoquímica , Lactente , Masculino , Monitorização Fisiológica/métodos , Nevo/fisiopatologia , Nevo Pigmentado/epidemiologia , Nevo Pigmentado/fisiopatologia , Prognóstico , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/fisiopatologiaRESUMO
Intravascular lymphoma is a rare subtype of extranodal diffuse large B-cell lymphoma characterized by clonal proliferation of lymphocytes inside of small and medium caliber vessels. Its incidence is estimated at one case per million. The clinical picture is very variable, but frequently has skin and central nervous system involvement. It is diagnosed by demonstrating pathological blood vessel infiltration by lymphoma cells. We report a 44 years old male presenting with fever, malaise and erythematous lesions in the abdominal wall. An abdominal wall biopsy showed dilated vascular vessels with atypical cells in their lumen, compatible with large B-cell intravascular lymphoma. He was treated with rituximab, cyclophosphamide, adriamycin, vincristine and prednisone and an autologous hematopoietic stem cell transplantation, achieving a complete remission that has lasted two years.
Assuntos
Linfoma Difuso de Grandes Células B/patologia , Neoplasias Vasculares/patologia , Parede Abdominal/irrigação sanguínea , Adulto , Biópsia , Eritema/complicações , Transplante de Células-Tronco Hematopoéticas , Humanos , Linfoma Difuso de Grandes Células B/terapia , Masculino , Indução de Remissão , Neoplasias Vasculares/terapiaRESUMO
INTRODUCTION: Although therapeutic advances have improved results of cutaneous melanoma (CM), sentinel node-positive patients still have substantial risk to develop recurrent disease. We aim to investigate prognostic indicators associated with disease recurrence in positive-sentinel lymph node biopsy (SLNB) patients in a Latin-American population. METHODS: Retrospective analysis of CM patients and positive-SLNB (2010-2020). Patients were divided into two groups: Group A (completion lymph node dissection, CLND), Group B (active surveillance, AS). Association of demographics, tumor data and SLN features with recurrence-free (RFS), distant metastases-free (DMFS) and melanoma specific (MSS) survival was analyzed. RESULTS: Of 205 patients, 45 had a positive SLNB; 27(60%) belonged to Group A and 18(40%) to Group B. With a median follow-up of 36 months, 16 patients (12 in Group A and 4 in Group B) developed recurrent disease and estimated 5-yr RFS at any site was 60% (CI95%, 0.39 - 0.77) (44.5% in CLND group vs. 22% in AS group; P = 0.20). Estimated 5-yr DMFS and MSS: 65% (CI 95%, 0.44 - 0.81) and 73% (CI 95%, 0.59 - 0.89) with no differences between groups (p = 0.41 and 0.37, respectively). Independent predictors of poorer MSS were extranodal extension (ENE) and MaxSize > 2 mm of melanoma deposit in SLN. Factors independently associated with DMFS: Breslow depth > 2 mm, ENE, number (≥ 2) of positive SN and CLND status. CONCLUSION: Primary tumor and SN features in melanoma provide important prognostic information that help optimize prognosis and clinical management. AS is now the preferred approach for most positive-SLNB CM patients.
Introducción: Si bien los avances terapéuticos han permitido mejorar los resultados del melanoma cutáneo (MC), los pacientes con ganglio centinela positivo (BGCP) aún tienen riesgo elevado de desarrollar recurrencia de la enfermedad. Nuestro objetivo fue investigar indicadores pronósticos asociados a dicho evento en una población latinoamericana. Métodos: Análisis retrospectivo de pacientes con MC y BGCP entre 2010-2020. Los pacientes se dividieron en 2 grupos: Grupo A (linfadenectomía terapéutica) y Grupo B (Vigilancia activa, VA). Se analizaron datos demográficos, tumorales y características del GC junto con sobrevidalibre de recurrencia (SLR), libre de metástasis a distancia (SLMD) y específica de melanoma (SEM). Resultados: De 205 pacientes, 45 presentaron BGCP; 27 (60%) perteneció al Grupo A y 18 (40%) al Grupo B. Con una mediana de seguimiento de 36 meses, 16 pacientes (12 en Grupo A y 4 en Grupo B) desarrollaron enfermedad recurrente con una SLR a 5 años de 60% (IC95%: 0.39-0.77) (44.5% en Grupo B vs. 22% en Grupo A; P = 0.20). Las SLMD y SEM estimadas a 5 años fueron de 65% (CI 95%, 0.44 0.81) y 73% (CI 95%, 0.59 0.89) sin diferencias entre ambos grupos (p = 0.41 y 0.37, respectivamente). Los predictores independientes de peor SEM fueron: extensión extranodal (ENE) y MaxSize > 2mm de depósito tumoral en GC. Los factores asociados de forma independiente con SLMD fueron Breslow > 2mm, ENE, número (≥ 2) de GC positivos y el status (positividad) de la linfadenectomía. Conclusión: Características del tumor primario y del GC brindan información importante que ayuda a optimizar el pronóstico y manejo clínico de los pacientes con MC. La VA es actualmente el abordaje de elección para la mayoría de los pacientes con BGCP.
Assuntos
Melanoma , Recidiva Local de Neoplasia , Biópsia de Linfonodo Sentinela , Neoplasias Cutâneas , Humanos , Melanoma/patologia , Melanoma/cirurgia , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/cirurgia , Masculino , Feminino , Estudos Retrospectivos , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/patologia , Biópsia de Linfonodo Sentinela/estatística & dados numéricos , Argentina , Idoso , Adulto , Linfonodo Sentinela/patologia , Prognóstico , Melanoma Maligno Cutâneo , Metástase Linfática/patologia , Excisão de Linfonodo , Idoso de 80 Anos ou mais , Intervalo Livre de DoençaRESUMO
Triple-negative breast cancer (TNBC) is an aggressive breast cancer subtype. There are neither universally accepted prognostic markers nor molecular targets related to TNBC. The histamine H4 receptor (H4R) has been characterized in TNBC experimental models, demonstrating its critical role in tumor development and progression. In this study, H4R expression was compared in breast cancer subtypes and correlated with clinical features using The Cancer Genome Atlas data (Pan-Cancer Atlas). The H4R status was further evaluated by immunohistochemistry in 30 TNBC human samples in relation to clinicopathological parameters. Results indicate that H4R was downregulated in basal-like/TNBC compared with luminal A and normal breast-like tumors. The higher expression of H4R was associated with improved progression-free and overall survival outcomes in basal-like/TNBC. H4R immunoreactivity was detected in about 70% of tumors, and its expression was positively correlated with the levels in the histologically normal peritumoral tissue. High H4R expression in peritumoral tissue correlated with reduced number of lymph node involvement and unifocal TNBC, while it was associated with increased patient survival. In conclusion, the H4R might represent a potential prognostic biomarker in TNBC. Further studies in large cohorts are needed to better understand the significance of H4R in breast cancer biology.
Assuntos
Receptores Histamínicos H4 , Neoplasias de Mama Triplo Negativas , Humanos , Imuno-Histoquímica , Linfonodos/metabolismo , Prognóstico , Receptores Histamínicos H4/biossíntese , Neoplasias de Mama Triplo Negativas/metabolismoRESUMO
The interstitial lymphoid pneumonia (LIP) is an uncommon disorder, described as non-neoplastic lung lymphoid tissue hyperplasia and classified as an interstitial lung disease. It has been described in association with HIV infection, autoimmune disorders, policlonal hypergammaglobulinemia and less frequently, with hypogammaglobulinemia. We report the case of a 66 year old female patient with a history of diabetes, Sjogren syndrome and hypertension. She was referred to our hospital due to a dry cough and dyspnea (FC II-III). The physical examination showed bilateral dry crackles and splenomegaly. Laboratory studies showed thrombocytopenia (50 000/ mm3) and hypogammaglobulinemia. A computed tomography thoracic scan showed interstitial bilateral basal lung infiltrates with small peribroncovascular nodules. A lung biopsy was made by thoracoscopy and reported LIP. Initial treatment consisted of oral methilprednisone, 40 mg daily, and once a month intravenous gammaglobulin 500 mg/kg, with good clinical and radiological response. A splenectomy was done due to persistent thrombocytopenia associated with hypersplenism, with good response of the platelets counts. No lymphoid clonal or other associated disease was detected.
Assuntos
Imunodeficiência de Variável Comum/patologia , Doenças Pulmonares Intersticiais/patologia , Pulmão/patologia , Idoso , Biópsia , Imunodeficiência de Variável Comum/terapia , Feminino , Humanos , Pulmão/diagnóstico por imagem , Doenças Pulmonares Intersticiais/terapia , RadiografiaRESUMO
Oncological impact of tumor-infiltrating lymphocytes (TILs) in melanoma remains controversial. We aimed to determine the significance of TILs on melanoma-specific survival (MSS), recurrence-free survival (RFS), and sentinel lymph node status (SLN). A retrospective analysis of patients undergoing melanoma resection during the period 2009-2019 was performed. Using the Melanoma Institute Australia grading system for TILs, the cohort was divided into two groups: group 1 (G1), patients with TILs grades 1, 2, or 3 and Group 2 (G2), patients with TILs grade 0. From a total of 386 melanoma resections, 151 (39%) were included in G1 and 39 (10%) in G2. Among the 151 patients who underwent SLN biopsy, the positivity rate according to the TILs grades 0, 1, 2, and 3 was 32%, 18%, 14%, and 0%, respectively, p = 0.02. With an average follow-up of 48 months, the 5-year MSS (G1: 86% vs G2: 75%, p = 0.002) and the 5-year RFS (G1: 81% vs G2: 60%, p = 0.004) were significantly higher in G1 than G2. Tumor-infiltrating lymphocytes in melanoma are associated with the SLN status and with a better MSS and RFS.
RESUMO
Whipple's disease is a chronic mutisystem disease caused by the bacteria Tropherima whipplei. Approximately 1200 cases have been described in the literature. The worldwide incidence is estimated at 9.8 cases per million people. Data from South America and Europe show that it affects middle-aged males. It is believed that host immunological factors rather than agent genotypic traits influence the course of the infection. Since the clinical characteristics are usually nonspecific and the wide spectrum of manifestations in individual organs may be underestimated, the diagnosis remains challenging. We present a case with multisystem compromise confirmed by histopathology. We consider its publication important given the few cases documented in South America and the relevance of bearing in mind the importance of an early diagnosis for a prompt treatment that improves the prognosis of this rare disease.
La enfermedad de Whipple es una enfermedad multisistémica crónica, causada por la bacteria Tropherima whipplei. Se han descripto aproximadamente 1200 casos en la literatura. La incidencia mundial se estima en 9.8 casos por millón de personas. Los datos provenientes de Sudamérica y Europa muestran que afecta a varones de mediana edad. Se cree que los factores inmunológicos del huésped son los que influyen en el curso de la infección y no el genotipo del agente. Dado que las características clínicas no suelen ser específicas y el espectro de manifestaciones en órganos individuales puede ser subestimado, el diagnóstico sigue siendo muy difícil. Presentamos un caso confirmado por histopatología con compromiso multisistémico. Consideramos importante su difusión dados los escasos casos documentados en Sudamérica y la relevancia de tener presente la sospecha diagnóstica para el abordaje terapéutico precoz que mejora el pronóstico de esta rara enfermedad.
Assuntos
Hipertensão Pulmonar , Doença de Whipple , Idoso , Antibacterianos/uso terapêutico , Europa (Continente) , Humanos , Hipertensão Pulmonar/diagnóstico , Hipertensão Pulmonar/etiologia , Masculino , Pessoa de Meia-Idade , Tropheryma , Doença de Whipple/complicações , Doença de Whipple/diagnóstico , Doença de Whipple/tratamento farmacológicoRESUMO
We report an unusual histopathological variant of a glomus tumor that arose in a peculiar topographic site, a sclerotic glomus tumor. Unlike conventional glomus tumors or glomangiomas that have a loose fibrous stroma with variable hyaline and myxoid changes, the case reported herein had a diffuse, hyalinized, sclerotic stroma. A further difference was that the majority of glomus tumors and glomangiomas occur in the subungual area, trunk, or extremities, whereas the present tumor occurred on the ear. Due to the peculiar histological features and location, other tumors were considered in the differential diagnosis to include Merkel cell carcinoma, primitive neuroectodermal tumor, and small cell melanoma. This article illustrates a unique variant of a glomus tumor, which to our knowledge has not been previously described.
Assuntos
Pavilhão Auricular/patologia , Neoplasias da Orelha/patologia , Tumor Glômico/patologia , Adulto , Biomarcadores Tumorais/metabolismo , Carcinoma de Célula de Merkel/diagnóstico , Diagnóstico Diferencial , Neoplasias da Orelha/metabolismo , Neoplasias da Orelha/cirurgia , Feminino , Tumor Glômico/metabolismo , Tumor Glômico/cirurgia , Humanos , Técnicas Imunoenzimáticas , Melanoma/diagnóstico , Tumores Neuroectodérmicos Primitivos/diagnóstico , EscleroseRESUMO
Desmoplastic melanoma is a rare presentation of melanoma with a different clinical behavior compared to other histological variants. Its diagnosis in early stages is a challenge due to its variable clinical presentation, with a predominant dermal component and the frequent absence of pigment. Its histology is divided into pure and mixed type, and this classification has important prognostic implications. The average Breslow thickness at diagnosis is higher than in other melanoma variants. However, the tendency to lymph node metastasis is low.
El melanoma desmoplásico es una variedad infrecuente de melanoma que se distingue por su presentación clínico-patológica y su comportamiento biológico. El diagnóstico temprano es un desafío por su presentación clínica variable, con predominio del componente dérmico y la frecuente ausencia de pigmento. En la histología se lo divide en puro y mixto y esta clasificación tiene importantes implicancias pronósticas. El espesor de Breslow promedio al momento del diagnóstico es mayor que en otras variantes de melanoma, sin embargo, la tendencia a generar metástasis ganglionares es menor.
Assuntos
Melanoma/diagnóstico , Melanoma/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Idoso , Biópsia , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Undifferentiated pancreatic carcinoma with osteoclast-like giant cells is a rare tumour that has been published under a wide variety of names, including pleomorphic carcinoma, giant cell carcinoma, sarcomatoid carcinoma and carcinosarcoma, among others. For these reasons and its low frequency, the reports of these tumours are scarce and frequently lead to confusion with other entities which present with giant cells. We present the case of a patient with obstructive jaundice and a mixed cystic and solid pancreatic mass, accompanied by multiple hepatic lesions. The histological study of the material obtained by endoscopic ultrasound guided biopsy demonstrated a proliferation of atypical epithelioid cells, accompanied by a spindle cell component with marked pleomorphism and numerous osteoclast-like giant cells. The epithelioid component showed positive immunostaining with cytokeratin cocktail and cytokeratin 7. The spindle cell component showed coexpression of cytokeratins and vimentin. The osteoclast-like giant cells were positive for CD68. Protein p53 was overexpressed in both epithelial and spindle cell neoplastic components, and was negative in the giant cells. These findings permitted the diagnosis of undifferentiated carcinoma of the pancreas with osteoclast-like giant cells. This case outlines the effectiveness of endoscopic ultrasound-guided biopsy and the importance of morphological and immunohistochemical examination in the diagnosis of different types of pancreatic tumours, especially when they are in advanced stages and are not suitable for surgical treatment.
RESUMO
Thymic carcinomas are extremely infrequent neoplasms (15% of all thymic epithelial tumors). Basaloid carcinoma is a peculiar tumor that represents no more than 2% of those infrequent thymic carcinomas. Surgical excision is the recommended treatment. As it's extremely rare, there is no evidence of the impact of different modalities of treatment. There are no reported cases that did not include surgery as part of their management. We herein present a case of an unresectable thymic basaloid carcinoma treated only with concurrent chemotherapy and radiotherapy that obtained a complete remission and free of disease after 2 years.
Assuntos
Quimiorradioterapia/métodos , Timoma/diagnóstico , Neoplasias do Timo/diagnóstico , Feminino , Humanos , Pessoa de Meia-Idade , Indução de Remissão , Timoma/terapia , Neoplasias do Timo/terapia , Resultado do TratamentoRESUMO
Abstract Introduction : Although therapeutic advances have improved results of cutaneous melanoma (CM), senti nel node-positive patients still have substantial risk to develop recurrent disease. We aim to investigate prog nostic indicators associated with disease recurrence in positive-sentinel lymph node biopsy (SLNB) patients in a Latin-American population. Methods : Retrospective analysis of CM patients and positive-SLNB (2010-2020). Patients were divided into two groups: Group A (completion lymph node dissection, CLND), Group B (active surveillance, AS). Association of demographics, tumor data and SLN features with recurrence-free (RFS), distant metastases-free (DMFS) and melanoma specific (MSS) survival was analyzed. Results : Of 205 patients, 45 had a positive SLNB; 27(60%) belonged to Group A and 18(40%) to Group B. With a median follow-up of 36 months, 16 patients (12 in Group A and 4 in Group B) developed recurrent dis ease and estimated 5-yr RFS at any site was 60% (CI95%, 0.39 - 0.77) (44.5% in CLND group vs. 22% in AS group; P = 0.20). Estimated 5-yr DMFS and MSS: 65% (CI 95%, 0.44 - 0.81) and 73% (CI 95%, 0.59 - 0.89) with no differ ences between groups (p = 0.41 and 0.37, respectively). Independent predictors of poorer MSS were extranodal extension (ENE) and MaxSize > 2 mm of melanoma deposit in SLN. Factors independently associated with DMFS: Breslow depth > 2 mm, ENE, number (≥ 2) of posi tive SN and CLND status. Conclusion : Primary tumor and SN features in mela noma provide important prognostic information that help optimize prognosis and clinical management. AS is now the preferred approach for most positive-SLNB CM patients.
Resumen Introducción : Si bien los avances terapéuticos han permitido mejorar los resultados del melanoma cutáneo (MC), los pacientes con ganglio centinela positivo (BGCP) aún tienen riesgo elevado de desarrollar recurrencia de la enfermedad. Nuestro objetivo fue investigar in dicadores pronósticos asociados a dicho evento en una población latinoamericana. Métodos : Análisis retrospectivo de pacientes con MC y BGCP entre 2010-2020. Los pacientes se dividieron en 2 grupos: Grupo A (linfadenectomía terapéutica) y Grupo B (Vigilancia activa, VA). Se analizaron datos demográficos, tumorales y características del GC junto con sobrevida-libre de recurrencia (SLR), libre de metástasis a distancia (SLMD) y específica de melanoma (SEM). Resultados : De 205 pacientes, 45 presentaron BGCP; 27 (60%) perteneció al Grupo A y 18 (40%) al Grupo B. Con una mediana de seguimiento de 36 meses, 16 pa cientes (12 en Grupo A y 4 en Grupo B) desarrollaron enfermedad recurrente con una SLR a 5 años de 60% (IC95%: 0.39-0.77) (44.5% en Grupo B vs. 22% en Grupo A; P = 0.20). Las SLMD y SEM estimadas a 5 años fueron de 65% (CI 95%, 0.44 - 0.81) y 73% (CI 95%, 0.59 - 0.89) sin diferencias entre ambos grupos (p = 0.41 y 0.37, respec tivamente). Los predictores independientes de peor SEM fueron: extensión extranodal (ENE) y MaxSize > 2mm de depósito tumoral en GC. Los factores asociados de forma independiente con SLMD fueron Breslow >2mm, ENE, número (≥ 2) de GC positivos y el status (positividad) de la linfadenectomía. Conclusión : Características del tumor primario y del GC brindan información importante que ayuda a optimi zar el pronóstico y manejo clínico de los pacientes con MC. La VA es actualmente el abordaje de elección para la mayoría de los pacientes con BGCP.
RESUMO
OBJECTIVES: To investigate the occurrence of microsatellite instability (MSI) in paediatric Barrett's oesophagus (BE) with the aim of identifying a potential marker for patients at risk for developing dysplasia or adenocarcinoma at a later stage. PATIENTS AND METHODS: Endoscopic oesophageal biopsies from 6 pediatric patients harbouring BE and 6 age-matched controls were retrospectively investigated. After all of the samples were made anonymous, a 5-microm section was cut and stained with toluidine blue. A precise cell was selected and captured using a laser microdissection microscope. Microsatellite analysis was performed on the DNA extracted from the captured cells. Genomic DNA was amplified by polymerase chain reaction using primers for 5 mononucleotide repeats and analysed by GeneMapper software on an ABI 3730. DNA extracted from a formalin-fixed colonic adenocarcinoma known to have MSI was used as a positive control. RESULTS: The median age of the patients with BE was 9 years. The relevant complaint was long-standing vomiting in 4 cases and history of dysphagia in 3 cases (1 case had both symptoms). All of the cases had a history of reflux oesophagitis with histological confirmation of oesophagitis. Reflux was associated with a hiatus hernia, obesity, and cerebral palsy in each of 3 cases, and with asthma in 2 patients. Histologically, all of the cases showed the presence of specialized intestinal metaplasia containing goblet cells replacing the squamous oesophageal epithelium. None of the cases tested showed any evidence of MSI. CONCLUSIONS: A single molecular marker that would allow recognition of those patients at risk for Barrett's adenocarcinoma has not yet been identified. The absence of MSI in our cases could be due to the need for a longer period of BE before genomic instability develops, or MSI may only arise in a proportion of patients. This does not exclude other genetic alterations, however rare they may be.
Assuntos
Esôfago de Barrett/genética , Esôfago/patologia , Instabilidade de Microssatélites , Adolescente , Esôfago de Barrett/patologia , Biópsia , Criança , Pré-Escolar , Esofagoscopia , Marcadores Genéticos , Humanos , Microdissecção , Inclusão em Parafina , Análise de Sequência de DNARESUMO
Thymomas are rare tumours characterised by their slow growth and capacity to invade directly by contiguity. While distant dissemination is infrequent, all sub-types of thymoma have the capacity to metastasise to extrathoracic organs. We present here the case of a female patient with a liver mass discovered 13 years after the removal of a mediastinal thymoma and after ten years from thyroidectomy for papillary carcinoma. The histopathological study showed that the lesion contained an epithelial component, which was immunohistochemically positive for pankeratin. It was accompanied by numerous small lymphocytes testing positive for TdT, CD3, CD4, CD5, CD8, CD99, and CD43. The result was consistent with hepatic metastatic thymoma sub-type B1, according to the World Health Organisation classification (WHO). Our case highlights the importance of morphological and immunohistological examinations in the differential diagnosis of visceral masses in patients with a history of thymoma. Given the infrequency of its metastasis and the increased risk of developing other primary tumours that these patients have, these studies play a significant role.
RESUMO
Resumen La enfermedad de Whipple es una enfermedad multisistémica crónica, causada por la bacteria Tropherima whipplei. Se han descripto aproximadamente 1200 casos en la literatura. La incidencia mundial se estima en 9.8 casos por millón de personas. Los datos provenientes de Sudamérica y Europa muestran que afecta a varones de mediana edad. Se cree que los factores inmunológicos del huésped son los que influyen en el curso de la infección y no el genotipo del agente. Dado que las características clínicas no suelen ser específicas y el espectro de manifestaciones en órganos individuales puede ser subestimado, el diagnóstico sigue siendo muy difícil. Presentamos un caso confirmado por histopatología con compromiso multisistémico. Consideramos importante su difusión dados los escasos casos documentados en Sudamérica y la relevancia de tener presente la sospecha diagnóstica para el abordaje terapéutico precoz que mejora el pronóstico de esta rara enfermedad.
Abstract Whipple's disease is a chronic mutisystem disease caused by the bacteria Tropherima whipplei. Approximately 1200 cases have been described in the literature. The worldwide incidence is estimated at 9.8 cases per million people. Data from South America and Europe show that it affects middle-aged males. It is believed that host immunological factors rather than agent genotypic traits influence the course of the infection. Since the clinical characteristics are usually nonspecific and the wide spectrum of manifestations in individual organs may be underestimated, the diagnosis remains challenging. We present a case with multisystem compromise confirmed by histopathology. We consider its publication important given the few cases documented in South America and the relevance of bearing in mind the importance of an early diagnosis for a prompt treatment that improves the prognosis of this rare disease.