RESUMEN
BACKGROUND: Alveolar soft part sarcoma (ASPS) is a rare translocation-related soft tissue sarcoma, occurring mainly in the limbs and trunk in young adults and adolescents. ASPS is rarely seen in the head and neck and one fourth of those cases described are tongue primary. Given its nonspecific symptoms, clinical findings, and rarity in this location, lingual ASPS (L-ASPS) has been reported to be commonly misdiagnosed as various benign tumors, leading to adverse outcomes. METHODS: We report a case of L-ASPS occurring in the oldest (78 years) female patient published to date and comprehensively review the literature from 1952 to 2022. RESULTS: She presented with a slow-growing (2-year duration) tongue mass, measuring 3.5 cm on palpation. Intraoperative frozen section could not render the definitive diagnosis. The pathological findings of the tumor were characteristic of ASPS with eosinophilic polygonal cells in an organoid/nested pattern, rich sinusoidal capillaries, and TFE3 immunoreactivity, except for the strong diffuse aberrant cytoplasmic CD68 immunoexpression and absence of intracytoplasmic crystalline inclusions on PAS with diastase. After TFE3 gene rearrangement had been identified with fluorescent in-situ hybridization, reflex testing confirmed a rearrangement of TFE3 gene with the known fusion partner ASPSCR1. CONCLUSIONS: ASPS should be included in the differential diagnoses in cases of any slow-growing lingual masses (especially vascular ones) with non-specific clinical pictures, regardless of the patient's age.
Asunto(s)
Sarcoma de Parte Blanda Alveolar , Neoplasias de los Tejidos Blandos , Neoplasias de la Lengua , Adolescente , Adulto Joven , Humanos , Femenino , Anciano , Sarcoma de Parte Blanda Alveolar/diagnóstico , Factores de Transcripción , Neoplasias de los Tejidos Blandos/patología , Factores de Transcripción Básicos con Cremalleras de Leucinas y Motivos Hélice-Asa-Hélice/genéticaRESUMEN
Hydrogen sulfide (H2S) is a gasotransmitter that exerts a multitude of functions in both physiologic and pathophysiologic processes. H2S-synthesizing enzymes are increased in a variety of human malignancies, including colon, prostate, breast, renal, urothelial, ovarian, oral squamous cell, and thyroid cancers. In cancer, H2S promotes tumor growth, cellular and mitochondrial bioenergetics, migration, invasion, angiogenesis, tumor blood flow, metastasis, epithelia-mesenchymal transition, DNA repair, protein sulfhydration, and chemotherapy resistance Additionally, in some malignancies, increased H2S-synthesizing enzyme expression correlates with a worse prognosis and a higher tumor stage. Here we review the role of H2S in cancer, with an emphasis on the molecular mechanisms by which H2S promotes cancer development, progression, dedifferentiation, and metastasis.
RESUMEN
BACKGROUND/AIM: Primary bone neoplasms include osteosarcomas (OS), chondrosarcomas (CS), and giant cell tumors (GCT). Nicotinamide phosphoribosyl transferase (NAMPT) catalyzes the rate-limiting step of nicotinamide adenine dinucleotide synthesis and is increased in multiple tumor types. In malignancies, NAMPT expression often correlates positively with tumor grade, chemotherapy resistance, and metastatic potential. MATERIALS AND METHODS: Tissue microarray was used to examine NAMPT expression in benign bone and cartilage, GCTs, OS, and different CS grades. RESULTS: For the first time, we showed that NAMPT expression was increased in GCTs and OS compared to benign bone, and in CS compared to benign cartilage. Its expression also increased with higher CS grade. CONCLUSION: Our data indicate that NAMPT plays a role in bone sarcomas and GCTs, and its higher expression may contribute to increased tumor aggressiveness.
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Biomarcadores de Tumor/análisis , Neoplasias Óseas/enzimología , Huesos/enzimología , Cartílago/enzimología , Condrosarcoma/enzimología , Citocinas/análisis , Nicotinamida Fosforribosiltransferasa/análisis , Osteosarcoma/enzimología , Neoplasias Óseas/patología , Huesos/patología , Cartílago/patología , Condrosarcoma/patología , Tumor Óseo de Células Gigantes/enzimología , Tumor Óseo de Células Gigantes/patología , Humanos , Inmunohistoquímica , Clasificación del Tumor , Osteosarcoma/patología , Análisis de Matrices Tisulares , Regulación hacia ArribaAsunto(s)
Glosectomía/métodos , Procedimientos Quirúrgicos Robotizados/métodos , Apnea Obstructiva del Sueño/cirugía , Lengua/patología , Glosectomía/instrumentación , Humanos , Procedimientos Quirúrgicos Robotizados/instrumentación , Apnea Obstructiva del Sueño/etiología , Resultado del TratamientoRESUMEN
The ataxia telangiectasia-mutated and Rad3-related (ATR) serine/threonine kinase plays a central role in the repair of replication-associated DNA damage, the maintenance of S and G2/M-phase genomic stability, and the promotion of faithful mitotic chromosomal segregation. A number of stimuli activate ATR, including persistent single-stranded DNA at stalled replication folks, R loop formation, hypoxia, ultraviolet light, and oxidative stress, leading to ATR-mediated protein phosphorylation. Recently, hydrogen sulfide (H2S), an endogenous gasotransmitter, has been found to regulate multiple cellular processes through complex redox reactions under similar cell stress environments. Three enzymes synthesize H2S: cystathionine-ß-synthase, cystathionine γ-lyase, and 3-mercaptopyruvate sulfurtransferase. Since H2S can under some conditions cause DNA damage, we hypothesized that ATR activity may regulate cellular H2S concentrations and H2S-syntheszing enzymes. Here we show that human colorectal cancer cells carrying biallelic knock-in hypomorphic ATR mutations have lower cellular H2S concentrations than do syngeneic ATR wild-type cells, and all three H2S-synthesizing enzymes show lower protein expression in the ATR hypomorphic mutant cells. Additionally, ATR serine 428 phosphorylation is altered by H2S donor and H2S synthesis enzyme inhibition, while the oxidative-stress induced phosphorylation of the ATR-regulated protein CHK1 on serine 345 is increased by H2S synthesis enzyme inhibition. Lastly, inhibition of H2S production potentiated oxidative stress-induced double-stranded DNA breaks in the ATR hypomorphic mutant compared to ATR wild-type cells. Our findings demonstrate that the ATR kinase regulates and is regulated by H2S.
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Proteínas de la Ataxia Telangiectasia Mutada/metabolismo , Sulfuro de Hidrógeno/metabolismo , Línea Celular Tumoral , Cistationina betasintasa/genética , Cistationina betasintasa/metabolismo , Cistationina gamma-Liasa/genética , Cistationina gamma-Liasa/metabolismo , Roturas del ADN de Doble Cadena , Regulación de la Expresión Génica , Humanos , Mutación , Fosforilación , ARN Mensajero/genética , ARN Mensajero/metabolismo , Sulfurtransferasas/genética , Sulfurtransferasas/metabolismoRESUMEN
Soft tissue reconstruction of head and neck ablative defects is a broad, challenging, and subjective topic. The authors outline goals to keep in mind when deciding on a primary reconstructive option for defects created by oncologic resection. Factors considered in local, regional, and distant flap selection are discussed. Based on the goals of reconstruction and factors involved in flap selection, a defect-based reconstructive algorithm is developed to help choose the ideal reconstructive option. The authors also discuss indications, pearls, pitfalls, and challenges in the harvest and inset of commonly used soft tissue flaps for head and neck reconstructive surgery.
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Neoplasias de Cabeza y Cuello/cirugía , Procedimientos de Cirugía Plástica/métodos , Algoritmos , Estética , Colgajos Tisulares Libres , Humanos , Calidad de VidaRESUMEN
BACKGROUND: Cystathione ß-synthase (CBS) catalyzes the conversion of homocysteine and cysteine to hydrogen sulfide (H2S) and cystathione, via the trans-sulfuration pathway. CBS protein expression levels are increased in several different human malignancies, with increased protein expression correlating with parameters such as tumor stage, anaplasia, metastases, and chemotherapy resistance. MATERIALS AND METHODS: This study employed tissue microarrays to examine CBS expression in benign thyroid tissue, thyroid oncocytomas, thyroid follicular adenomas, and in follicular, papillary, anaplastic, and medullary thyroid carcinomas. RESULTS: CBS expression was increased in all thyroid carcinomas types compared to benign thyroid tissue, but not in thyroid follicular adenomas or oncocytomas. A similar pattern was observed for nicotinamide phosphoribosyltransferase (NAMPT) tissue microarray analysis comparing thyroid adenomas and follicular carcinomas. CONCLUSION: For the first time, we showed that an H2S-syntheszing enzyme plays a role in thyroid malignancies. Additionally, our data suggest that CBS and NAMPT immunohistochemistry may be useful in differentiating follicular adenomas from follicular carcinomas.
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Cistationina betasintasa/biosíntesis , Neoplasias de la Tiroides/enzimología , Adenocarcinoma Folicular/enzimología , Adenoma Oxifílico/enzimología , Carcinoma Neuroendocrino/enzimología , Citocinas/biosíntesis , Humanos , Sulfuro de Hidrógeno/metabolismo , Inmunohistoquímica , Nicotinamida Fosforribosiltransferasa/biosíntesis , Cáncer Papilar Tiroideo/enzimología , Carcinoma Anaplásico de Tiroides/enzimología , Análisis de Matrices TisularesRESUMEN
BACKGROUND/AIM: Hydrogen sulfide (H2S) and the enzymes that synthesize it, cystathionine-b-synthase, cystathionine γ-lyase, and 3-mercaptopyruvate, are increased in different human malignancies. Due to its short half-life, H2S concentrations have not been directly measured in a human malignancy. Here we directly measured in vivo H2S levels within oral squamous cell carcinoma (OSCC). PATIENTS AND METHODS: Punch biopsies of OSCC and benign mucosae from 15 patients were analyzed by HPLC, western blotting, and tissue microarray analyses. RESULTS: H2S concentrations were significantly higher in OSCC compared to adjacent benign oral mucosae. Western blot and tissue microarray studies revealed significantly increased cystathionine-b-synthase, cystathionine γ-lyase, and 3-mercaptopyruvate, phopho-Stat3, mitoNEET, hTERT, and MAPK protein levels in OSCC. CONCLUSION: H2S concentrations and the enzymes that synthesize it are significantly increased in OSCC. Here, for the first time H2S concentrations within a living human malignancy were measured and compared to adjacent counterpart benign tissue.
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Carcinoma de Células Escamosas/metabolismo , Sulfuro de Hidrógeno/metabolismo , Mucosa Bucal/metabolismo , Neoplasias de la Boca/metabolismo , Anciano , Anciano de 80 o más Años , Western Blotting , Cromatografía Líquida de Alta Presión , Humanos , Persona de Mediana Edad , Análisis de Matrices TisularesRESUMEN
PURPOSE: We present a series of cases of mandibular symphysis fractures treated at our institution with a 3-dimensional strut plate. The aim of the present study was to confirm the stability of this fixation technique and discuss its advantages, disadvantages, and potential complications. PATIENTS AND METHODS: We designed and implemented a retrospective cohort study of patients who underwent surgery by the same surgeon at our institution from July 2012 to April 2014 for a mandible fracture with a symphysis component. The patients were evaluated to identify aspects of occlusion, fracture mobility, postoperative infection, and the need for hardware removal. RESULTS: The sample included 12 subjects who had met the inclusion criteria. The inclusion criteria were a linear noncomminuted fracture, sufficient distance from the mental foramina, a maximum of 5 days between the trauma and surgery, and a minimum postoperative period of 3 months. The mean age of the sample was 33.4 years, and 1 of the 12 patients (8.3%) was female. Of the 12 patients, 10 did well, and 2 developed a surgical site infection, 1 of whom also experienced nonunion and required additional fixation. CONCLUSIONS: The results of the present study suggest a 3-dimensional strut plate applied to symphysis fractures provides adequate fracture stabilization with a risk of complications comparable to that of more traditional fixation methods. In addition, the technique has the added advantage of minimal manipulation and adaptation, which could shorten the overall operating time.