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Uterine tumor resembling ovarian sex-cord tumor (UTROSCT) is a rare form of uterine mesenchymal neoplasm. Although UTROSCT generally exhibits benign behavior with a favorable prognosis, this neoplasm is nevertheless classified as being of uncertain malignant potential, given its low rate of recurrence and the fact that it rarely produces metastases (e.g., in the lymph nodes, epiploic appendix, omentum, small bowel, subcutaneous tissue, lungs). Its histogenesis is also uncertain. Typically, UTROSCT occurs in peri-menopausal or menopausal women, but it can sometimes be observed in young women. Usually, this neoplasm can be found in the uterine corpus as a nodular intramural lesion, while it is less frequently submucosal, subserosal, or polypoid/intracavitary. UTROSCT can cause abnormal bleeding, pelvic pain, enlarged uterus, and mass sensation, but sometimes it is found purely by chance. This neoplasm can be considered polyphenotypic on morphological, immunohistochemical, and genetic analyses. Generally, upon microscopic examination, UTROSCT shows a predominant pattern of the cords, nests, and trabeculae typical of sex-cord tumors of the ovary, while immunohistochemically it is characterized by a coexpression of epithelial, smooth muscle, and sex-cord markers. The aim of this review is to report clinical and pathological data and genetic alterations to establish their impact on the prognosis and management of patients affected by this rare entity.
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Introduction: Intussusception represents a rare form of bowel obstruction in the adult, which is defined as the telescoping of a proximal segment of the gastrointestinal tract into the lumen of the adjacent distal segment of the GI tract Case Report: We report the case of a 50-year-old woman was admitted in our hospital with acute bowel obstruction. CT showed intestinal occlusion secondary to intussusception. the patient underwent emergency surgery. Surgery confirmed intussusception at the level of the distal ileum (about 30 cm from the ileocecal valve) due to a 3-4 oval mass of hard consistency that appeared to be suspicious for GIST. Was performed a resection of the ileal segment involved associated with oncologically radical lymphadenectomy. The histological examination reported benign ileal mesenchymal neoformation compatible with inflammatory fibroid polyp. Patient had a regular course Discussion: In adults, 90% of invaginations manifest as a result of an organic lesion caused by benign or malignant tumors. The clinical presentation in adults is generally chronic or nonspecific. The emergence of acute symptoms due to complete intestinal obstruction occours in fewer than 20% of patients. Abdominal computed tomography (CT) is the most sensitive radiologic method to confirm intussusception. As many cases are secondary to organic pathologies with malignant potential, surgical resection of the affected bowel segment with oncological procedures is the primary method of treatment Conclusion: Due to the fact that adult intussusception is often frequently associated with organic lesions, surgical intervention is necessary. Treatment usually requires formal resection of the involved bowel segment. (www.actabiomedica.it).
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Neoplasias Gastrointestinales , Obstrucción Intestinal , Intususcepción , Leiomioma , Neoplasias de los Tejidos Blandos , Adulto , Femenino , Humanos , Obstrucción Intestinal/diagnóstico por imagen , Obstrucción Intestinal/etiología , Obstrucción Intestinal/cirugía , Intestinos , Intususcepción/etiología , Intususcepción/cirugía , Persona de Mediana EdadRESUMEN
PURPOSE: To investigate the pathobiological origin of local relapse after chemoradiotherapy, we studied genetic relationships of primary tumors (PT) and local relapses (LR) of patients treated with chemoradiotherapy. EXPERIMENTAL DESIGN: First, low-coverage whole genome sequencing was performed on DNA from 44 biopsies of resected head and neck squamous cell carcinoma (HNSCC) specimens (median 3 biopsies/tumor) to assess suitability of copy number alterations (CNAs) as biomarker for genetic relationships. CNAs were compared within and between tumors and an algorithm was developed to assess genetic relationships with consideration of intratumor heterogeneity. Next, this CNA-based algorithm was combined with target enrichment sequencing of genes frequently mutated in HNSCC to assess the genetic relationships of paired tumors and LRs of patients treated with chemoradiotherapy. RESULTS: Genetic relationship analysis using CNAs could accurately (96%) predict tumor biopsy pairs as patient-matched or independent. However, subsequent CNA analysis of PTs and LRs after chemoradiotherapy suggested genetic relationships in only 20% of cases, and absence in 80%. Target enrichment sequencing for mutations confirmed absence of any genetic relationship in half of the paired PTs and LRs. CONCLUSIONS: There are minor variations in CNA profiles within different areas of HNSCC tumors and many between independent tumors, suggesting that CNA profiles could be exploited as a marker of genetic relationship. Using CNA profiling and mutational analysis of cancer driver genes, relapses after chemoradiotherapy appear to be partially genetically related to the corresponding PTs, but seem often genetically unrelated. This remarkable observation warrants further studies and will impact therapeutic innovations and prognostic modeling when using index tumor characteristics.
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Biomarcadores de Tumor/genética , Quimioradioterapia/mortalidad , Variaciones en el Número de Copia de ADN , Neoplasias de Cabeza y Cuello/patología , Mutación , Recurrencia Local de Neoplasia/patología , Carcinoma de Células Escamosas de Cabeza y Cuello/patología , Anciano , Anciano de 80 o más Años , Femenino , Estudios de Seguimiento , Neoplasias de Cabeza y Cuello/genética , Neoplasias de Cabeza y Cuello/terapia , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia/genética , Recurrencia Local de Neoplasia/terapia , Pronóstico , Carcinoma de Células Escamosas de Cabeza y Cuello/genética , Carcinoma de Células Escamosas de Cabeza y Cuello/terapia , Tasa de SupervivenciaRESUMEN
The authors aim to identify criteria for the diagnosis of intestinal visceral myopathy (IVM); results were compared with ultrastructural studies. Six IVM patients and 7 pediatric control cases (without gastrointestinal diseases) were studied. One case was a typical megacystis-microcolon-intestinal hypoperistalsis syndrome. The diagnostic path included: rectal suction biopsy, one-trocar transumbilical laparoscopic intestinal full-thickness biopsy technique. Pathological analysis included anti-alpha smooth muscle actin staining, and US study of intestinal biopsies. IVM histological examination demonstrated thinning of longitudinal muscle layer. The ratio of circular/longitudinal thickness was evaluated in all samples; in cases, this ratio presented as a mean value of 2.91, and in controls, a mean value of 1.472 (Pâ=â0.0002). Ultrastructural diagnosis revealed variable myofibrils density in smooth muscle cells, irregularity of sarcolemma membranes, interstitial fibrosis, and myofiber disarray. The authors concluded that in IVM, circular/longitudinal thickness ratio and alpha smooth muscle actin staining can be used as significant tools to address the diagnosis.
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Seudoobstrucción Intestinal/diagnóstico , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/patología , Adolescente , Biopsia , Estudios de Casos y Controles , Niño , Preescolar , Colon/anomalías , Colon/patología , Femenino , Humanos , Lactante , Seudoobstrucción Intestinal/patología , Intestinos/patología , Masculino , Vejiga Urinaria/anomalías , Vejiga Urinaria/patologíaRESUMEN
PURPOSE: To compare diagnostic performance between computed tomography (CT) and magnetic resonance imaging (MRI) for the detection of bone infiltration from oral cancer, and to test interobserver agreement between radiologists with different expertises. MATERIALS AND METHODS: Pre-surgical CT and MRI were reviewed independently by two radiologists with different expertises in head and neck oncology. A third radiologist reviewed CT and MRI simultaneously. Interobserver agreement was calculated by Cohen test. Association between radiological evidence of bone infiltration and histological reference was tested by Fisher's exact test or Chi-squared test, as appropriate. Receiving operator curve was calculated and area under the curve (AUC) was compared between CT, MRI, and both methods together. RESULTS: Interobserver agreement was moderate: the trainee under-reported periosteal reaction on CT and inferior alveolar canal involvement on MRI. Imaging findings associated with histologic evidence of bone infiltration were: periosteal reaction and cortical erosion on CT; bone marrow involvement, contrast enhancement within bone; and inferior alveolar canal involvement on MRI. Sensitivity of MRI alone (74 %) was higher than CT (52 %). Simultaneous review of CT and MRI showed the highest specificity (91 %), with the increase of diagnostic performance in the subgroup of subjects with positive MRI (AUC = 0.689; p = 0.044). CONCLUSION: Higher expertise allows pre-surgical detection of clinically relevant signs of bone infiltration sensitivity of MRI alone is higher than CT for the detection of bone infiltration from oral cancer. In MRI positive cases, diagnostic integration with combined review of CT and MRI is suggested for optimal diagnostic performance.
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Competencia Clínica , Neoplasias Mandibulares/diagnóstico por imagen , Neoplasias Mandibulares/secundario , Neoplasias de la Boca/diagnóstico por imagen , Neoplasias de la Boca/patología , Medios de Contraste , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Valor Predictivo de las Pruebas , Estudios Retrospectivos , Sensibilidad y Especificidad , Tomografía Computarizada por Rayos XRESUMEN
Identifying precursor lesions of cholangiocarcinoma (CC) is relevant for early diagnosis and management. While for distal, perihilar and large duct cholangiocarcinoma, premalignant lesions are being recognized and studied actively, precursors of peripheral CC are still poorly described. Biliary adenofibroma is a rare benign tumor that has been proposed as a possible precursor lesion of peripheral CC. In the present report, we describe a unique case of a peripheral ICC that originated from a benign biliary adenofibroma with areas of atypical papillary proliferation, which is an expression of a multistep process of carcinogenesis.
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Adenofibroma/patología , Neoplasias de los Conductos Biliares/patología , Transformación Celular Neoplásica/patología , Colangiocarcinoma/patología , Anciano , Humanos , Masculino , Lesiones Precancerosas/patologíaRESUMEN
A 68-yr-old male, smoker, is admitted for proteinuria (2,800â mg/24 h) and reduced renal function (serum creatinine 2â mg/dl, GFR 35 ml/min). Renter, he started working 20-yr-old as a sandstone cave miner. Despite the high levels of silica dusts, he reported no mandatory use of airways protection devices during the first 25â yr of activity. No clinical or radiological signs of silicosis or pneumoconiosis where reported until the year of retirement (1997). Erythrocyte sedimentation rate (91â mm/h) and C reactive protein (35â mg/l) suggested a pro-inflammatory status. High serum IgA was found (465â mg/dl). A renal biopsy identified glomerular sclerosis with IgA deposition, signs of diffuse vasculitis and tubular atrophia suggesting a diagnosis of IgA nephropathy. Chest X-Rays showed emphysema and diffuse nodularity suggesting diagnosis of silicosis. Chest tomography was also positive for mild signs of silicosis with silicotic nodules and without honeycombing. IgA nephropathy is the most common type of glomerulonephritis worldwide. Several clues suggest a genetic or acquired abnormality of immune system as a trigger of the increased production of IgA. In our case report, simultaneous kidney and pulmonary disease could suggest same triggers (e.g. exposure to virus, bacteria or environmental agents) inducing IgA synthesis and pulmonary immune system activation.
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Glomerulonefritis por IGA/complicaciones , Glomerulonefritis por IGA/patología , Silicosis/complicaciones , Silicosis/diagnóstico por imagen , Anciano , Humanos , Masculino , Tomografía Computarizada por Rayos XRESUMEN
Apocrine carcinoma is a rare tumor of the skin that typically arises in areas rich in apocrine glands, such as axilla and perineum. The main differential diagnosis is a metastasis from a primary apocrine carcinoma of the breast. Several authors have attempted to define morphological and immunohistochemical parameters to differentiate metastasis from primary apocrine carcinoma of the skin, but none of these had been demonstrated to be reliable markers. Here, we report a case of primary apocrine carcinoma of the scrotum that relapsed three times within a few years, without any clinical or radiological evidence of any other tumor of breast or other sites.
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Adenocarcinoma/patología , Glándulas Apocrinas/patología , Recurrencia Local de Neoplasia/patología , Escroto/patología , Neoplasias de las Glándulas Sudoríparas/patología , Adenocarcinoma/cirugía , Glándulas Apocrinas/cirugía , Humanos , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia/cirugía , Escroto/cirugía , Neoplasias de las Glándulas Sudoríparas/cirugía , Resultado del TratamientoRESUMEN
Pheochromocytoma is a tumor that has the probability to relapse in about 10% of surgically treated cases. Currently, the only recognized criteria of malignancy in these neoplasms are the evidence of metastasis at non-chromaffin sites. No reliable clinical or histopathological parameter has been, so far, identified to predict malignancy in patients with diagnosis of primary pheochromocytoma. Several authors has attempted to propose morphologic features to detect potentially malignant pheochromocytomas, but there are still too many reported cases of recurrence, also after decades, in tumors that, according to the current knowledge, are considered "benign". Here we report a case of recurrence, after 25 years, of a pheochromocytoma that had not enough criteria to be considered as malignant.
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Neoplasias de las Glándulas Suprarrenales/patología , Recurrencia Local de Neoplasia/patología , Feocromocitoma/patología , Neoplasias de las Glándulas Suprarrenales/cirugía , Adulto , Femenino , Humanos , Recurrencia Local de Neoplasia/cirugía , Feocromocitoma/cirugía , PronósticoRESUMEN
Renal bone metaplasia (RBM) is a uncommon condition and is often an incidental finding. The pathogenesis of this phenomenon is not clearly understood. The radiological signs described are not always present and the diagnosis is challenging. In the literature, there is no any conclusion about the optimal management of this condition due to the absence of some conclusions regarding its etiology. In our opinion, no treatment should be applied to prevent its possible evolution into urolithiasis. Surgical removal of the RBM is an overtreatment for a phenomenon not understood and potentially insignificant. We report our experience with a watchful waiting approach in a case of incidental diagnosis of RBM. After 3 years, the patient is asymptomatic, with no evidence of malignancies evolution, new renal stones or growth of the residual RBM.
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Enfermedades Renales/diagnóstico , Riñón/patología , Osificación Heterotópica/diagnóstico , Femenino , Humanos , Hallazgos Incidentales , Metaplasia , Persona de Mediana EdadRESUMEN
Solid papillary tumor (SPT) is an uncommon lesion of the pancreas whose origin and behavior are poorly understood. Very rare cases of primary extra-pancreatic SPTs have been described, and their clinical, histological, immunophenotypic and ultrastructural features seem to be similar to those arising in the pancreas. Here we report a case of primitive SPT of the liver, the second case described in the literature so far.
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Carcinoma Papilar/patología , Neoplasias Hepáticas/patología , Enfermedades Raras , Biomarcadores de Tumor/metabolismo , Carcinoma Papilar/metabolismo , Carcinoma Papilar/cirugía , Núcleo Celular/ultraestructura , Citoplasma/ultraestructura , Supervivencia sin Enfermedad , Femenino , Humanos , Neoplasias Hepáticas/metabolismo , Neoplasias Hepáticas/cirugía , Persona de Mediana Edad , Resultado del TratamientoRESUMEN
The frequency and clinical relevance of late recurrences of testicular germ cells tumors (GCTs) has increased in the past few decades because of the improved survival of patients following the introduction, in the late 1970s, of cisplatin-based chemotherapy. The late recurrences of GCT may take extremely variable features and occur several years after the primary tumor, making the diagnosis a challenge for both clinicians and pathologists. This study reports a case of a testicular seminoma that relapsed 28 years after surgery as an undifferentiated GCT with a heterologous component of neuroendocrine carcinoma that was initially misdiagnosed as a metastasis of primary intestinal tumor.
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Carcinoma Neuroendocrino/secundario , Seminoma/secundario , Neoplasias Testiculares/patología , Protocolos de Quimioterapia Combinada Antineoplásica , Biomarcadores de Tumor/metabolismo , Carcinoma Neuroendocrino/metabolismo , Carcinoma Neuroendocrino/terapia , Terapia Combinada , Diagnóstico Diferencial , Errores Diagnósticos , Resultado Fatal , Humanos , Neoplasias Intestinales/diagnóstico , Neoplasias Intestinales/secundario , Neoplasias Hepáticas/secundario , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia , Neoplasias de Células Germinales y Embrionarias/diagnóstico , Neoplasias Primarias Múltiples , Neoplasias Peritoneales/secundario , Neoplasias Retroperitoneales/diagnóstico , Seminoma/metabolismo , Seminoma/terapia , Neoplasias Testiculares/metabolismo , Neoplasias Testiculares/terapiaRESUMEN
BACKGROUND: Of all female genital tract tumors, 1-3% are stromal malignancies. In 8-10% of cases, these are represented by Müllerian adenosarcoma an extremely rare tumor characterized by a stromal component of usually low-grade malignancy and by a benign glandular epithelial component. Variant that arises in the pouch of Douglas is scarcely mentioned in the medical literature. CASE PRESENTATION: A 49-year-old para-0 woman, was seen at our OB/GYN-UNIT because she complained vaguely of pelvic pain. She had a mass of undefined nature in the pouch of Douglas. A simple excision of the mass showed low-grade Müllerian adenosarcoma with areas of stromal overgrowth. One and a half year after surgery, at another hospital, a mass was detected in the patient's posterior vaginal fornix and removed surgically. Six months later she came back to our observation with vaginal bleeding and mass in the vaginal fornix. We performed radical surgery. The pathological examination showed recurrent adenosarcoma. Surgical treatment was supplemented by radiation therapy. CONCLUSIONS: The case of Müllerian adenosarcoma reported here is the third known so far in the literature that was located in the pouch of Douglas. To date, only two other such cases have been reported, including one resulting from neoplastic degeneration of an endometriotic cyst.
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Adenosarcoma/patología , Fondo de Saco Recto-Uterino/patología , Neoplasias de los Genitales Femeninos/patología , Neoplasias Peritoneales/secundario , Adenosarcoma/diagnóstico , Adenosarcoma/radioterapia , Adenosarcoma/cirugía , Fondo de Saco Recto-Uterino/cirugía , Femenino , Neoplasias de los Genitales Femeninos/diagnóstico , Neoplasias de los Genitales Femeninos/radioterapia , Neoplasias de los Genitales Femeninos/cirugía , Humanos , Persona de Mediana Edad , Neoplasias Peritoneales/diagnóstico , Neoplasias Peritoneales/radioterapia , Neoplasias Peritoneales/cirugíaRESUMEN
Primary squamotransitional cell carcinoma (STCC) is rare squamous cell tumor variant resembling transitional cell carcinoma (TCC) of the urinary tract. STCC occurs rarely in the vagina and its clinical and pathological correlates are poorly known. We report a unique case of a 66-year-old Italian woman with STCC of the vagina. A biopsy of the tumor was performed. The tumor qualified as a STCC. Following biopsy, the patient underwent radical hysterectomy (Piver's III-type) with bilateral salpingo-oophorectomy, upper colpectomy, appendicectomy, peritoneal cytology, and lymphadenectomy. The patient is now healthy without evidence of recurrence at 30 months after surgery. Pathologically, cytoarchitectural characteristics distinguish this histotype (STCC) from conventional squamous cell carcinoma of the genital tract. The cytokeratin staining pattern (CK7 positive and CK20 negative), the p63 expression and the positivity for p16ink4a and high-risk HPV are the main elements of differential diagnosis. We suggest that STCC of the vagina should be treated by radical surgery, possibly followed by adjuvant therapy based on staging results and should receive a long-term follow-up.
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Carcinoma de Células Escamosas/patología , Carcinoma de Células Escamosas/cirugía , Neoplasias Vaginales/patología , Neoplasias Vaginales/cirugía , Anciano , Femenino , HumanosRESUMEN
The authors present an unusual case of huge orbital teratoma extended to the cranial fossa in a newborn baby. The clinical features, radiologic findings, and surgical approach are described. Discussion will focus on the surgical technique and on the sparing of the affected eye, comparing the authors approach with other few cases described in literature. Finally, detailed histopathologic finding is provided.