RESUMEN
Low-grade oncocytic tumor (LOT) has recently been described as a distinct renal tumor. LOT shows consistent morphologic features and a CK7-positive/CD117-negative immunophenotype. To examine the clinicopathological, immunohistochemical, and molecular features of LOT, we searched our institutional archives and identified seven cases of LOT. All patients were female, with a mean age of 66 years (range 44-79 years). The average tumor size was 3.2 cm (range 1.6-5.5 cm). Macroscopically, the tumors showed tan-brown and solid cut surfaces. Microscopically, the tumors showed compact nested to solid growth pattern, three cases with areas of edematous stroma containing loosely connected small clusters, cords or dispersed single tumor cells. The tumor cells had uniformly round to oval nuclei with eosinophilic cytoplasm, and showed perinuclear halos. Two cases focally had nuclear irregularities and binucleated cells were occasionally seen in three cases. Immunohistochemically, diffuse positivity for CK7 and lack of CD117 expression were present in all cases. All of the tumors were negative for CD10, CK20, vimentin, CA9, TFE3, TFEB, HMB45, and Melan-A. All tumors were positive for MTOR and negative for Cathepsin-K. FH and SDHB were retained. Next generation sequencing identified genetic variations in the MTOR pathway related genes: TSC1 (4/7), TSC2 (5/7), and MTOR (1/7). All patients were alive and without disease progression, after a mean follow-up of 43 months (range 6-89 months). LOT is an uncommon eosinophilic renal neoplasm with unique morphological and characteristic immunophenotypic features, and may represent an emerging separate renal entity characterized by mutations in the TSC/MTOR pathway.
Asunto(s)
Carcinoma de Células Renales , Neoplasias Renales , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/metabolismo , Carcinoma de Células Renales/patología , Riñón/patología , Neoplasias Renales/patología , Mutación , Serina-Treonina Quinasas TOR/genética , Proteína 1 del Complejo de la Esclerosis Tuberosa , Proteína 2 del Complejo de la Esclerosis TuberosaRESUMEN
Adrenal myelolipoma (AML) is a benign tumor that consists of mature adipose tissue and bone marrow elements. We report a case of a 57-year-old woman who presented with complaint of lower abdominal discomfort. Computed tomography scan of abdomen and pelvis revealed a mass in the left adrenal measuring 2.0 cm which was radiologically considered to be AML. Pathological evaluation of the lesion showed foci of lymphoid aggregate in a background of AML that were confirmed to be diffuse large B cell lymphoma by immunohistochemistry and gene rearrangement. To our knowledge, this collision tumor has not been reported previously. The clinical, radiological, pathological features, and treatment are discussed.
Asunto(s)
Neoplasias de las Glándulas Suprarrenales/patología , Linfoma de Células B Grandes Difuso/patología , Mielolipoma/patología , Neoplasias de las Glándulas Suprarrenales/diagnóstico por imagen , Neoplasias de las Glándulas Suprarrenales/tratamiento farmacológico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Ciclofosfamida/uso terapéutico , Doxorrubicina/uso terapéutico , Femenino , Humanos , Linfoma de Células B Grandes Difuso/diagnóstico por imagen , Linfoma de Células B Grandes Difuso/tratamiento farmacológico , Persona de Mediana Edad , Mielolipoma/diagnóstico por imagen , Mielolipoma/tratamiento farmacológico , Prednisona/uso terapéutico , Resultado del Tratamiento , Vincristina/uso terapéuticoRESUMEN
Alpha-fetoprotein (AFP) is a useful tumor marker for hepatocellular carcinomas and yolk sac tumors. Rare extrahepatic visceral malignancies may be associated with AFP production and those exhibiting a hepatoid differentiation by morphology and immunohistochemical are classified as hepatoid adenocarcinoma. Renal cell carcinoma (RCC) producing AFP is a rare entity. To date, only one case of AFP-producing Xp11 translocation RCC has been reported. We reported another case of Xp11 translocation RCC, in which the tumor cells displayed strong immunostaining for AFP, HepPar1, and GPC-3. Additionally, the other published cases are reviewed.
Asunto(s)
Carcinoma de Células Renales/sangre , Neoplasias Renales/sangre , alfa-Fetoproteínas/análisis , Adulto , Biomarcadores de Tumor , Carcinoma de Células Renales/patología , Carcinoma de Células Renales/cirugía , Humanos , Neoplasias Renales/patología , Neoplasias Renales/cirugía , Masculino , Translocación Genética , Resultado del TratamientoAsunto(s)
Carcinoma Papilar/diagnóstico por imagen , Carcinoma de Células Transicionales/diagnóstico por imagen , Sarcoma de Ewing/diagnóstico por imagen , Neoplasias de la Vejiga Urinaria/diagnóstico por imagen , Anciano , Carcinoma Papilar/complicaciones , Carcinoma Papilar/patología , Carcinoma de Células Transicionales/complicaciones , Carcinoma de Células Transicionales/patología , Resultado Fatal , Femenino , Humanos , Inmunohistoquímica , Sarcoma de Ewing/complicaciones , Sarcoma de Ewing/patología , Tomografía Computarizada por Rayos X , Vejiga Urinaria/diagnóstico por imagen , Vejiga Urinaria/patología , Neoplasias de la Vejiga Urinaria/complicaciones , Neoplasias de la Vejiga Urinaria/patología , Urografía , Urotelio/diagnóstico por imagen , Urotelio/patologíaRESUMEN
Epithelioid hemangioendothelioma (EHE) is a rare malignant angiocentric vascular neoplasm. Around 90% of classic EHE has a t(1;3)(p36;q25) that results in a WWTR1-CAMTA1 fusion gene, a histologically distinctive subset of EHE has been recently shown to have a t(10;14)(p13;q42)that results in a different fusion gene, YAP1-TFE3. Twenty-one cases of TFE3 Rearranged Epithelioid Hemangioendothelioma have been reported in the literature, and only two cases occurred in bone. In the report, we report additional two cases occurred in the femur and skull and review the related literature.
Asunto(s)
Factores de Transcripción Básicos con Cremalleras de Leucinas y Motivos Hélice-Asa-Hélice/genética , Neoplasias Óseas/genética , Hemangioendotelioma Epitelioide/genética , Adolescente , Neoplasias Óseas/cirugía , Femenino , Reordenamiento Génico , Hemangioendotelioma Epitelioide/cirugía , Humanos , Inmunohistoquímica , Adulto JovenAsunto(s)
Mioepitelioma/diagnóstico , Neoplasias de la Vulva/diagnóstico , Adulto , Citogenética , Femenino , Humanos , Inmunohistoquímica , Inmunofenotipificación , Mioepitelioma/metabolismo , Mioepitelioma/patología , Vulva/patología , Neoplasias de la Vulva/metabolismo , Neoplasias de la Vulva/patologíaRESUMEN
Because of its competitive inhibitor activity against aminopeptidase B, bestatin isolated from the broth of Streptomyces olivoreticuli ATCC 31159 is famous and currently used as an approved therapeutic agent for cancer and bacterial infections. It can be used alone or in combination with other antibiotics or anticancer drugs as adjuvant therapy drug for chemotherapy and radiotherapy. Due to the therapeutic importance of bestatin, mining of its biosynthetic mechanism is imperative. Genome mining, one of the bioinformatics-based approaches for the discovery of novel natural product, has been developed and applied widely. Herein, we reported the complete genome of Streptomyces olivoreticuli ATCC 31159 obtained from American Type Culture Collection (ATCC). It consists of 8,809,793 base pairs with a linear chromosome, GC content of 71.1%, 7520 protein-coding genes, 75 tRNA operons, 21 rRNA operons, 63 sRNAs. In addition, predictive analysis showed that at least 37 putative biosynthetic gene clusters (BGCs) of the secondary metabolites were obtained, 18 new BGCs with low similarity (< 25%) were included. The availability of novel and abundant gene clusters not only will provide clues for cracking the biosynthetic mechanism of bestatin, but also will provide valuable insight for mining the diverse bioactive compounds based on rational strategies.
Asunto(s)
Genoma Bacteriano/genética , Leucina/análogos & derivados , Streptomyces/genética , Composición de Base , Secuencia de Bases , Biología Computacional , ADN Bacteriano/genética , Genes Bacterianos/genética , Leucina/biosíntesis , Leucina/genética , Familia de Multigenes/genética , Operón/genética , Metabolismo Secundario/genética , Análisis de Secuencia de ADN , Streptomyces/metabolismoAsunto(s)
Angiomiolipoma/diagnóstico , Carcinoma de Células Renales/diagnóstico , Neoplasias Renales/diagnóstico , Esclerosis Tuberosa , Adulto , Angiomiolipoma/diagnóstico por imagen , Carcinoma de Células Renales/diagnóstico por imagen , Humanos , Neoplasias Renales/diagnóstico por imagen , MasculinoRESUMEN
Salmonella enterica serovar Typhimurium can inject effector proteins into host cells via type III secretion systems (T3SSs). These effector proteins modulate a variety of host transcriptional responses to facilitate bacterial growth and survival. Here we show that infection of host cells with S Typhimurium specifically induces the ubiquitination of tumor necrosis factor receptor-associated factor 6 (TRAF6). This TRAF6 ubiquitination is triggered by the Salmonella pathogenicity island 1 (SPI-1) T3SS effectors SopB and SopE2. We also demonstrate that TRAF6 is involved in the SopB/SopE2-induced phosphorylation of signal transducer and activator of transcription 3 (STAT3), a signaling event conducive to the intracellular growth of S Typhimurium. Specifically, TRAF6 mediates lysine-63 ubiquitination within the Src homology 2 (SH2) domain of STAT3, which is an essential step for STAT3 membrane recruitment and subsequent phosphorylation in response to S Typhimurium infection. TRAF6 ubiquitination participates in STAT3 phosphorylation rather than serving as only a hallmark of E3 ubiquitin ligase activation. Our results reveal a novel strategy in which S Typhimurium T3SS effectors broaden their functions through the activation of host proteins in a ubiquitination-dependent manner to manipulate host cells into becoming a Salmonella-friendly zone.