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AIM: Cerebellar liponeurocytoma is a rare primary cerebellar neoplasm that mostly occurs in adults, however, it is rare in the elderly. MATERIALS AND METHODS: We report, in a 79-year-old female, a recurrent vermian cerebellar mass that was previously diagnosed as primary cerebellar tumor with neuroendocrine differentiation. The recurrent lesion showed anaplastic features and lipidization. RESULTS: DNA methylation profiling was performed for the recurrent tumor, which showed a high score match for cerebellar liponeurocytoma. CONCLUSION: This report confirms the usefulness of DNA methylation profiling for the diagnosis of challenging CNS tumors.
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Neoplasias Cerebelosas , Neurocitoma , Adulto , Anciano , Neoplasias Cerebelosas/diagnóstico , Neoplasias Cerebelosas/genética , Cerebelo , Metilación de ADN/genética , Femenino , Humanos , Recurrencia Local de Neoplasia , Neurocitoma/diagnóstico , Neurocitoma/genéticaRESUMEN
Here we report the case of concomitant favorable-risk prostate cancer and Hodgkin Lymphoma in a 38-year old male. 68Ga-Prostate Specific Membrane Antigen-11 Positron Emission Tomography/Computed Tomography (68Ga-PSMA-11 PET/CT) was performed for staging purposes, showing the focal PSMA prostatic uptake as well as the presence of enlarged low-PSMA expressing mediastinal lymphadenopathies, thus raising the suspicion of another malignancy. A subsequent 18F-Fluorodeoxyglucose (18F-FDG) PET/CT demonstrated a high FDG-avidity by mediastinal lymphadenopathies as opposed to the low prostate cancer FDG uptake. Of note, both tumor entities were clearly detected by the two scans. However, different ranges in terms of Maximum Standardized Uptake Value (SUVmax) uptake allowed the discrimination between the two tumor entities. At the subsequent mediastinal lymph nodal biopsy, the coexistence of Hodgkin lymphoma was documented. The present case suggests that even if specific for prostate cancer, 68Ga-PSMA-11 PET/CT may raise the suspicion of other concurrent malignancies thanks to its non-receptor bounding mechanism. Further, it shows that in certain cases, the combination of 18F-FDG and 68Ga-PSMA PET/CT imaging may non-invasively guide the clinical management, optimizing the diagnostic process and the subsequent therapeutic interventions.
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Enfermedad de Hodgkin , Neoplasias de la Próstata , Adulto , Diagnóstico Diferencial , Fluorodesoxiglucosa F18 , Isótopos de Galio , Radioisótopos de Galio , Enfermedad de Hodgkin/diagnóstico por imagen , Humanos , Masculino , Tomografía Computarizada por Tomografía de Emisión de Positrones , Neoplasias de la Próstata/diagnóstico por imagenRESUMEN
Verruciform xanthoma is a rare and benign condition predominantly affecting the oral cavity, but also skin and female anogenital mucosa. It can be flat, papular-warty or crateriform-cystic. Furthermore it can simulate HPV viral lesion such as condyloma and malignant neoplasia such as verrucous squamous cell carcinoma. An accurate diagnosis is important to avoid overtreatment, considering it is a benign lesion that does not require any radical treatment. We present an extremely rare case of a 64 year-old man with a small, slighty raised, gray reddish-dotted lesion on the left portion of the ventral side of his glans.
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Carcinoma/patología , Enfermedades del Pene/patología , Neoplasias del Pene/patología , Xantomatosis/patología , Diagnóstico Diferencial , Humanos , Masculino , Persona de Mediana EdadRESUMEN
PURPOSE: This study aims to confirm the diagnostic accuracy of extra-prostatic extension (EPE) grading system and to explore the predictive capabilities of the prostate MRI while considering various MRI features such as lesion location, apparent diffusion coefficient (ADC) values and capsular enhancement sign (CES). METHODS: Our monocentric study is based on a retrospective analysis of 99 patients who underwent radical prostatectomy from January 2021 to January 2023. The observers reviewed for each lesion, including location (transitional or peripheral zone, anterior or posterior location), capsular contact length, irregular bulging of the capsule, asymmetry of the neurovascular bundle, obliteration of the recto-prostatic angle, macroscopic EPE, ADC value, and CES. RESULTS: Among 99 patients, 31 patients had EPE. Lesions with EPE have broadercapsule contact (24 mm vs 12 mm) with contact ≥14 mm being the optimal cut-off for EPE discrimination. Among the morphological MRI criteria used to determine the EPE, the one with major sensitivity was shown to be bulging (sen 81%), while macroscopic extension had highest specificity (100%). Univariate analysis showed as significative risk factors for EPE: capsular contact ≥14 mm (P < .001), International Society of Urological Pathology score ≥3 (P = .005), CES (P < .001), bulging (P = .001), neurovascular bundle asymmetry (P < .001) and EPE score ≥2 (P < .001), and in multivariate analysis CES (P = .001) and EPE score ≥2 (P = .004) were significant. The AUC of the EPE score was 0.76, raised to 0.83 when combining it with CES (P = .11). CONCLUSION: CES in the setting of multiparametric MRI can increase diagnostic accuracy for the prediction of extracapsular disease. ADVANCES IN KNOWLEDGE: This study highlights the potential of contrast media in prostate cancer local staging.
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Imagen por Resonancia Magnética , Clasificación del Tumor , Prostatectomía , Neoplasias de la Próstata , Humanos , Masculino , Neoplasias de la Próstata/diagnóstico por imagen , Neoplasias de la Próstata/patología , Estudios Retrospectivos , Persona de Mediana Edad , Imagen por Resonancia Magnética/métodos , Anciano , Próstata/diagnóstico por imagen , Próstata/patología , Sensibilidad y EspecificidadRESUMEN
Amoebic liver abscess is a severe and potentially life-threatening infection requiring prompt diagnosis and early targeted treatment. Diagnosis is challenging because conventional diagnostic methods such as light microscopy and serology are often unreliable. Molecular techniques have emerged as an additional diagnostic tool, suddenly becoming the new diagnostic reference standard. More recently, commercial multiplex PCR panels, including FilmArray, have been introduced, which permit the simultaneous detection of several enteric pathogens including Entamoeba histolytica in stool samples. We report a case of an amoebic liver abscess promptly diagnosed by FilmArray gastrointestinal panel performed on liver drainage fluid.
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Multiple primary colorectal carcinomas (CRCs) synchronous, when detected approximately at the same time, or metachronous, when a significant amount of time has elapsed between diagnoses can show both mismatch repair (MMR) status concordance and discordance between primary tumors. The aim was to evaluate the MMR status of a monoinstitutional, retrospective cohort of synchronous and metachronous CRCs, with a focus on the frequency of cases with discordant MMR status, and explore the MMR status of metastatic nodal deposits. All synchronous and metachronous CRCs diagnosed in our institution between 2011 and 2023 were collected. Clinicopathologic characteristics were evaluated, including MMR status of all CRCs, BRAF mutation, and MLH1 promoter methylation analyses. MMR status discordant cases were further analyzed, and MMR testing was performed on nodal metastases. Of 3671 patients, 107 (2.9%) had multiple CRCs (94 synchronous and 13 metachronous; total number of CRCs 220). Sixty CRCs were MMR deficient (dMMR) (27.3%), and most were right-sided and high-grade and showed special histologic features (P < .00001). Ninety-three patients showed intertumoral MMR concordance: 70 (65.4%) with MMR-proficient (pMMR) CRCs, and 23 (21.5%) were dMMR. Fourteen patients (13.1%) showed intertumoral MMR discordance (at least one dMMR and one pMMR), and in 5 patients, nodal metastases were present: 2 patients harbored metastases only from their pMMR cancer, 2 only from their dMMR cancer, and in 1 patient both pMMR and dMMR metastases were present. In conclusion, all multiple primary CRCs should be analyzed for MMR status as discordant MMR is possible as well as discordant metastatic nodal deposits, and this may be important for patient management.
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Neoplasias Colorrectales , Neoplasias Primarias Múltiples , Humanos , Reparación de la Incompatibilidad de ADN , Estudios Retrospectivos , Neoplasias Colorrectales/genética , Neoplasias Colorrectales/patología , Neoplasias Primarias Múltiples/genética , Neoplasias Primarias Múltiples/patología , Inestabilidad de MicrosatélitesRESUMEN
Mismatch repair/microsatellite instability (MMR/MSI) status in colorectal cancer (CRC) has become fundamental as a diagnostic, prognostic, and predictive factor. MMR immunohistochemistry (IHC) is considered a simple and reliable approach; however, its effectiveness depends on pre-analytic factors. Aim of this study was to investigate the impact of different fixation times/protocols on MMR protein IHC quality. Left over tissue from surgically resected CRC samples (cold ischemia time < 30 min) where fixed as follows: standard formalin fixation (24-48 h); hypo-fixation (<20 h); hyper-fixation (>90 h); cold (4°C) fixation (24-48 h); standard fixation for small sample size (0.5×0.5 cm). Samples for each group were collected from 30 resected CRC and the following parameters were evaluated on 600 immunohistochemical stains: intensity of expression; patchiness of staining; presence of central artefact. Forty-six immunoreactions were inadequate (score 0 intensity), the majority regarding MLH1 or PMS2 in the hypo-fixation group (47.8%), followed by the hyper-fixation group (28.1%); cold formalin fixation showed the least inadequate cases. Patchiness and central artefact were more frequent in hypo-fixation and standard fixation group compared to the others. MLH1 (closely followed by PMS2) performed worse with regard to immunostaining intensity (p=0.0002) in the standard and in the hypo-fixation group (p< 0.00001). Using a small sample size improved patchiness/central artefacts. This is the first study specifically created to evaluate the impact of fixation on MMR protein IHC, showing that both formalin hypo- and hyper-fixation can cause problems; 24-h formalin fixation as well as cold (4°C) formalin fixation are recommended for successful IHC MMR evaluation.
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Neoplasias Colorrectales , Reparación de la Incompatibilidad de ADN , Humanos , Inmunohistoquímica , Endonucleasa PMS2 de Reparación del Emparejamiento Incorrecto , Inestabilidad de Microsatélites , Homólogo 1 de la Proteína MutL/metabolismo , Neoplasias Colorrectales/diagnósticoRESUMEN
Severe acute respiratory syndrome Coronavirus 2 (SARS-CoV-2) causes COVID-19 that has been spreading worldwide since December 2019. Viral entry into cells requires expression of both angiotensin-converting enzyme 2 (ACE2) and transmembrane protease serine 2 (TMPRSS2) on the surface of the host cell. The male reproductive system, including the prostate, was supposed to be a potential target for SARS-CoV-2 since the presence of ACE and TMPRS2 receptors. This paper investigated for the first time the presence of SARS-CoV-2 mRNA in the prostatic tissue of a patient with active infection. In addition, we searched for the virus in the prostate of five patients after their recovery from COVID-19. The SARS-CoV-2 RNA was not detected in any of the prostate tissues tested even during the acute phase of infection. As case series have limitations, causality cannot be excluded and sporadic evidence of prostatic tissue invasion by SARS-CoV-2 may be detectable.
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BACKGROUND: treated prostate cancer (PCa) patients develop biochemical recurrence (BCR) in 27-53% of cases; the role of MRI in this setting is still controversial. In 2021 a panel of experts proposed a "Prostate Imaging-Recurrence Reporting" (PI-RR) score, aiming to standardize the reporting. The aim of our study is to evaluate the reproducibility of the PI-RR scoring system among readers with different expertise. METHODS: in this monocentric, retrospective observational study, the images of patients who underwent MRI with BCR from January 2017 to January 2022 were analyzed by two radiologists and a radiology resident. Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and accuracy were obtained. Interobserver agreement was calculated. The percentage of the PI-RR score of 3 was estimated to find out the proportion of uncertain exams reported among the readers. RESULTS: a total of seventy-six patients were included in our study: eight previously treated with RT and sixty-eight who underwent surgery. The accuracy range was 75-80%, the sensitivity 68.4-71.1%, the specificity 81.6-89.5%, PPV 78.8-87.1%, and NPV 72.1-75.6%. The inter-reader agreement using a binary evaluation (PI-RR ≥ 3 as positive mpMRI) demonstrated a correlation coefficient (k) of 0.74 (95% CI: 0.62-0.87). The percentage for the PI-RR score of 3 was 6.6% for reader one, 14.5% for reader two, and 2.6% for reader three. CONCLUSION: this study confirmed the good accuracy of mpMRI in the detection of local recurrence of PCa and the good reproducibility of PI-RR score among all readers, confirming it to be a promising tool for the standardization of the assessment of patients with BCR.
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The superior diagnostic accuracy of [68Ga]Ga-prostate-specific membrane antigen-11 (PSMA) ([68Ga]Ga-PSMA-11) compared to [18F]F-Fluorocholine Positron Emission Tomography/Computed Tomography (PET/CT) in Prostate Cancer (PCa) is established. However, it is currently unclear if the added diagnostic accuracy actually translates into improved clinical outcomes in oligometastatic PCa patients treated with [68Ga]Ga-PSMA-11 PET-guided metastasis-directed therapy (MDT). The present study aimed to assess the impact of these two imaging techniques on Progression-Free Survival (PFS) in a real-world sample of oligometastatic PCa patients submitted to PET-guided MDT. Thirty-seven oligometastatic PCa patients treated with PET-guided MDT were retrospectively enrolled. MDT was guided by [18F]F-Fluorocholine PET/CT in eleven patients and by [68Ga]Ga-PSMA-11 PET/CT in twenty-six. Progression was defined as biochemical recurrence (BR), radiological progression at subsequent PET/CT imaging, clinical progression, androgen deprivation therapy initiation, or death. Clinical and imaging parameters were assessed as predictors of PFS. [18F]F-Fluorocholine PET-guided MDT was associated with significantly lower PFS compared to the [68Ga]Ga-PSMA-11 group (median PFS, mPFS 15.47 months, 95% CI: 4.13−38.00 vs. 40.93 months, 95% CI: 40.93−40.93, respectively; p < 0.05). Coherently, the radiotracer used for PET-guided MDT resulted in predictive PFS at the univariate analysis, as well as the castration-resistant status at the time of MDT and the PSA nadir after MDT. However, in the multivariate analysis, castration resistance and PSA nadir after MDT remained the sole independent predictors of PFS. In conclusion, in the present proof-of-concept study, [68Ga]Ga-PSMA-11 provided higher PFS rates than [18F]F-Fluorocholine imaging in oligometastatic PCa patients receiving PET-guided MDT. Although preliminary, this finding suggests that enlarging the "tip of the iceberg", by detecting a major proportion of the submerged disease thanks to next-generation imaging may favourably impact the oncological outcome of oligometastatic PCa treated with MDT.
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INTRODUCTION: We present the management of the second reported case of carcinosarcoma of the kidney parenchyma with malignant degeneration of both epithelial and mesenchymal components. CASE REPORT: A 36-year-old woman came to our attention for an incidental sonographic finding of a lesion in the lower pole of the left kidney. A contrasted computed tomography scan confirmed the presence of a 50 × 52 mm2 contrasted lesion in the left lower kidney pole. The patient underwent a challenging laparoscopic left partial nephrectomy and para-aortic lymphadenectomy. The histological examination led to the diagnosis of a carcinosarcoma of the kidney parenchyma with malignant degeneration of both epithelial and mesenchymal components. The patient underwent adjuvant chemotherapy with paclitaxel at 175 mg/m2 plus carboplatin area under the curve 6 intravenously for six cycles. At a follow-up of 42 months, the patient is alive and does not show any local recurrences or distant metastases. CONCLUSION: A multi-disciplinary therapeutic approach, combined with an adequate doctor-patient relationship and a close and detailed follow-up, is of fundamental importance in obtaining good outcomes in such rare and challenging cases.
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Carcinosarcoma , Relaciones Médico-Paciente , Adulto , Carcinosarcoma/cirugía , Femenino , Estudios de Seguimiento , Humanos , Riñón , Recurrencia Local de NeoplasiaRESUMEN
INTRODUCTION: The concordance rate of bladder cancer (BCa) histological variants (HV) between transurethral resection of bladder tumor (TURBT) and radical cystectomy (RC) is sub-optimal and is unclear which factors may influence it. The aim of this study was to identify factors that may be correlated to a higher TURBT-RC concordance rate. MATERIAL AND METHODS: Consecutive patients who had undergone RC between 2000 and 2019 at a single Institution with pathological evidence of HV were included. Patients with diagnosis of HV both at RC and at the previous TURBT were enlisted in the TURBT-RC Concordance Group (CG), whereas patients with only evidence of HV at RC in the TURBT-RC Non-Concordance Group (NCG). Surgical factors evaluated were the source of energy (mono- vs bipolar), surgeon's experience (≥100), execution of re-TURBT, number and size of specimens at TURBT. RESULTS: A total of 81 patients were included, 49 (60.5%) in the CG and 32 (39.5%) in the NCG. Among the surgical factors, maximal core length (MCL) was significantly higher in the CG (12.5 vs 10 mm, p = 0.014) (Table 1). At uni- and multivariable analyses, MCL>10 mm represented an independent predictor of concordance [OR 2.95; CI (1.01-8.61); p = 0.048]. Tumor recurrence, focality and dimension, source of energy, surgeon's experience, performance of re-TURBT and total number of specimens at TURBT did not significantly predict the concordance. CONCLUSIONS: Longer specimens at TURBT yield a higher chance to detect HV before RC. In this light, improving the quality of bladder resection means improving the management of BCa.
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OBJECTIVE: We present two rare cases ofbladder xanthomata associated with transitional cell carcinoma. METHOD AND RESULTS: Cases description and selectionof related pictures. Review of the existing literature. CONCLUSIONS: Xanthomata are non-neoplastic lesionsconsisting of group of foamy lipidstoring histiocytes in thedermis of skin or in the lamina propria of mucosa. Urinarybladder is an uncommon localization for these lesions andtheir etiology isn't still well understood, being variably associatedwith abnormalities of lipid metabolism. Althoughsometimes they are described in association with urothelialneoplasms, they were not believed to have any biologicalneoplastic potential and so they are treated consequently.
OBJETIVO: Presentamos dos raros casos de Xantoma vesical asociado con carcinoma de células transicionales.MÉTODOS Y RESULTADOS: Descripción de los casos y selección de imágenes relacionadas. Revisión de la bibliografía existente. CONCLUSIONES: Los xantomas son lesiones no neoplásicas constituidas por grupos de histiocitos espumosos almacenadores de lípidos en la dermis cutánea o en la lámina propia de la mucosa. La vejiga urinaria es una localización rara de estas lesiones y su etiología no se entiende bien todavía, asociándose variablemente con anomalías del metabolismo lipídico. Aunque a veces se describen en asociación con neoplasias uroteliales, no se piensa que tengan ningún potencial neoplásico y consecuentemente así se tratan.
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Carcinoma de Células Transicionales , Neoplasias de la Vejiga Urinaria , Xantomatosis , Carcinoma de Células Transicionales/complicaciones , Humanos , Neoplasias de la Vejiga Urinaria/complicaciones , Xantomatosis/complicacionesRESUMEN
BACKGROUND: Osteoblastoma is a benign bone-forming tumor, sometimes locally invasive, that may involve any bone. The highest incidence is between 20 and 30 years of age, and there are no cases described in the elderly. METHODS: We report a case of an elderly patient with a lesion in the lumbar spine in which osteoblastoma diagnosis was made. CONCLUSIONS: Osteoblastoma is a rare tumor older than 50 years of age, but it should be considered in the differential diagnosis of bone lesions of the spine in adulthood and in the elderly, to avoid a delay in the treatment.
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Laminectomía , Vértebras Lumbares/diagnóstico por imagen , Osteoblastoma/diagnóstico por imagen , Neoplasias de la Columna Vertebral/diagnóstico por imagen , Anciano , Humanos , Vértebras Lumbares/cirugía , Masculino , Osteoblastoma/cirugía , Neoplasias de la Columna Vertebral/cirugíaRESUMEN
INTRODUCTION: Leiomyomas are rare benign tumors that can occur in the male urinary tract. We present a unique case of leiomyoma of the vas deferens. CASE DESCRIPTION: We present the clinical case of a 69-year-old patient with a suspected bulk close to the right epididymis, which turned out to be a leiomyoma of the vas deferens. To our knowledge, it is the fourth case in literature. CONCLUSIONS: A proper identification and the knowledge of this pathology, even if it is a very unusual event, is necessary to avoid a surgical over treatment and preserve the testicle, by removing only the tumor.
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Neoplasias de los Genitales Masculinos , Leiomioma , Enfermedades Raras , Conducto Deferente , Anciano , Neoplasias de los Genitales Masculinos/patología , Neoplasias de los Genitales Masculinos/cirugía , Humanos , Leiomioma/patología , Leiomioma/cirugía , Masculino , Enfermedades Raras/patología , Enfermedades Raras/cirugíaRESUMEN
Confirmation of endoscopically suspected esophageal metaplasia (ESEM) requires histology, but confusion in the histological definition of columnar-lined esophagus (CLE) is a longstanding problem. The aim of this study is to evaluate interpathologist variability in the interpretation of CLE. Thirty pathologists were invited to review three ten-case sets of CLE biopsies. In the first set, the cases were provided with descriptive endoscopy only; in the second and the third sets, ESEM extent using Prague criteria was provided. Moreover, participants were required to refer to a diagnostic chart for evaluation of the third set. Agreement was statistically assessed using Randolph's free-marginal multirater kappa. While substantial agreement in recognizing columnar epithelium (K = 0.76) was recorded, the overall concordance in clinico-pathological diagnosis was low (K = 0.38). The overall concordance rate improved from the first (K = 0.27) to the second (K = 0.40) and third step (K = 0.46). Agreement was substantial when diagnosing Barrett's esophagus (BE) with intestinal metaplasia or inlet patch (K = 0.65 and K = 0.89), respectively, in the third step, while major problems in interpretation of CLE were observed when only cardia/cardia-oxyntic atrophic-type epithelium was present (K = 0.05-0.29). In conclusion, precise endoscopic description and the use of a diagnostic chart increased consistency in CLE interpretation of esophageal biopsies. Agreement was substantial for some diagnostic categories (BE with intestinal metaplasia and inlet patch) with a well-defined clinical profile. Interpretation of cases with cardia/cardia-oxyntic atrophic-type epithelium, with or without ESEM, was least consistent, which reflects lack of clarity of definition and results in variable management of this entity.
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Esófago de Barrett/patología , Epitelio/patología , Neoplasias Esofágicas/patología , Esófago/patología , Adulto , Anciano , Esófago de Barrett/diagnóstico , Biopsia , Neoplasias Esofágicas/diagnóstico , Humanos , Metaplasia , Persona de Mediana Edad , Reproducibilidad de los ResultadosAsunto(s)
Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/patología , Infecciones por VIH/complicaciones , Neoplasias de la Lengua/diagnóstico , Neoplasias de la Lengua/patología , Lengua/patología , Histocitoquímica , Humanos , Masculino , Microscopía , Persona de Mediana EdadRESUMEN
OBJECTIVE: We present two rare cases of bladder xanthomata associated with transitional cell carcinoma. Method and results: Cases description and selection of related pictures. Review of the existing literature. CONCLUSIONS: Xanthomata are non-neoplastic lesions consisting of group of foamy lipidstoring histiocytes in the dermis of skin or in the lamina propria of mucosa. Urinary bladder is an uncommon localization for these lesions and their etiology isn't still well understood, being variably associated with abnormalities of lipid metabolism. Although sometimes they are described in association with urothelial neoplasms, they were not believed to have any biological neoplastic potential and so they are treated consequently
OBJETIVO: Presentamos dos raros casos de Xantoma vesical asociado con carcinoma de células transicionales. MÉTODOS Y RESULTADOS: Descripción de los casos y selección de imágenes relacionadas. Revisión de la bibliografía existente. CONCLUSIONES: Los xantomas son lesiones no neoplásicas constituidas por grupos de histiocitos espumosos almacenadores de lípidos en la dermis cutánea o en la lámina propia de la mucosa. La vejiga urinaria es una localización rara de estas lesiones y su etiología no se entiende bien todavía, asociándose variablemente con anomalías del metabolismo lipídico. Aunque a veces se describen en asociación con neoplasias uroteliales, no se piensa que tengan ningún potencial neoplásico y consecuentemente así se tratan