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1.
Front Surg ; 11: 1416801, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39364374

RESUMEN

Background: An adrenal collision tumor (ACT) denotes the presence of distinct tumors with diverse behavioral, genetic, and histological features independently co-existing within the adrenal tissue without intermingling, and occurrences of such cases are infrequent. The concurrent occurrence of adrenal schwannoma and adrenal ganglioneuroma is exceedingly rare, and the diagnosis of these ACTs has been notably challenging due to their atypical clinical manifestations and imaging characteristics. Case summary: A 37-year-old man presented to the hospital 3 weeks after a computed tomography (CT) examination that revealed a left adrenal mass. Physical examination findings were unremarkable. Both CT and magnetic resonance imaging scans indicated the presence of a left adrenal mass. Plasma cortisol, adrenocorticotropic hormone, and renin-angiotensin-aldosterone system tests yielded normal results. Preoperative imaging confirmed the diagnosis of left adrenal pheochromocytoma. After thorough surgical preparation, a laparoscopic partial left adrenalectomy was performed. Subsequent postoperative pathological analysis identified adrenal schwannoma in conjunction with adrenal ganglioneuroma. The patient recovered well and was discharged on postoperative day 4. A routine urology clinic visit was included in his postoperative care plan. During follow-up assessments, CT scans of the left adrenal gland revealed no abnormalities. Conclusion: Adrenal schwannoma combined with ganglioneuroma represents an exceptionally rare collision tumor characterized by the absence of typical clinical or imaging features, leading to potential misdiagnosis. Adrenal incidentalomas present as multifaceted conditions, and this case serves to heighten awareness of their intricate nature. Due to the challenges in preoperative differentiation of various adrenal mass types, postoperative pathological analysis is imperative for guiding the subsequent treatment course for the patient.

4.
Medicine (Baltimore) ; 103(37): e39651, 2024 Sep 13.
Artículo en Inglés | MEDLINE | ID: mdl-39287281

RESUMEN

RATIONALE: The current diagnostic approach for urinary tract urothelial carcinoma (UTUC) relies on symptoms and imaging. Nevertheless, the diagnosis can be challenging in advanced cases presenting with atypical imaging and symptoms. This article presents an unreported case with atypical imaging and symptoms to provide some experience in diagnosing advanced UTUC. PATIENT CONCERNS: A 55-year-old male patient was admitted to the hospital with a 2-month history of persistent left scrotal pain and intermittent left lower back pain. DIAGNOSES: Computed tomography and magnetic resonance imaging revealed a left kidney infection. Paradoxically, the patient did not present with a fever, and the white blood cell count was within normal limits. To further clarify the diagnosis, urine cytology was performed. Surprisingly, malignant tumor cells were discovered. The diagnosis of UTUC was considered. INTERVENTIONS: The patient underwent radical tumor resection. OUTCOMES: The surgery was successfully performed. The patient received regular chemotherapy after surgery. No recurrence was found during the follow-up. LESSONS: This case is a rare and enlightening clinical scenario. When imaging reveals renal infection accompanied by varicocele or renal vein embolism, it is crucial to consider the possibility of advanced UTUC.


Asunto(s)
Imagen por Resonancia Magnética , Tomografía Computarizada por Rayos X , Humanos , Masculino , Persona de Mediana Edad , Tomografía Computarizada por Rayos X/métodos , Imagen por Resonancia Magnética/métodos , Neoplasias Urológicas/diagnóstico , Neoplasias Urológicas/diagnóstico por imagen , Neoplasias Urológicas/cirugía , Diagnóstico Diferencial , Carcinoma de Células Transicionales/diagnóstico por imagen , Carcinoma de Células Transicionales/diagnóstico , Carcinoma de Células Transicionales/complicaciones , Carcinoma de Células Transicionales/cirugía , Neoplasias Ureterales/diagnóstico por imagen , Neoplasias Ureterales/diagnóstico , Infecciones Urinarias/diagnóstico , Enfermedades Renales/diagnóstico por imagen , Enfermedades Renales/diagnóstico
5.
6.
Front Oncol ; 14: 1308493, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38410105

RESUMEN

Background: Ectopic tissue is rarely found in the bladder for adults. Currently, there have been reports of ectopic prostate and colon tissue in the bladder. These ectopic tissues are manifested as a bladder mass and cause lower urinary tract symptoms. However, the ectopic corpus cavernosum in the bladder has never been reported, and its clinical characteristics and treatment have not been explored yet. Case summary: A 3-year-old boy was admitted to the hospital due to 1 month of urinary frequency. The physical examination was unremarkable. Urine analysis from other hospitals showed an elevated urine white blood cell count of 17.9/ul. In addition, ultrasound indicated a possible bladder mass. CT and MRI showed a well-margined lesion (1.9×1.9 cm) in the bladder trigone. Through preoperative imaging, we diagnosed a bladder tumor (inclined towards benign). The transurethral resection of the bladder tumor was performed. Unfortunately, the surgery was unsuccessful due to the difficulty in removing the excised tissue through the urethra. Subsequently, bladder incision and tumor resection were performed. The tumor was successfully removed. Surprisingly, the postoperative pathology showed that the tumor tissue was corpus cavernosum. The pathological diagnosis was ectopic corpus cavernosum in the bladder. No complications were found after the operation, and no recurrence was observed during follow-up. Conclusion: The ectopic corpus cavernosum in the bladder has never been reported for children, which is presented as a benign tumor with rapid proliferation and large size. Surgery is recommended. However, the transurethral resection of bladder tumors is difficult to perform due to narrow urethra and limited surgical instruments. Bladder incision and tumor resection may be preferred.

8.
Respir Res ; 24(1): 291, 2023 Nov 20.
Artículo en Inglés | MEDLINE | ID: mdl-37986064

RESUMEN

BACKGROUND: Several observational studies have found that physical inactivity and sedentary time are associated with idiopathic pulmonary fibrosis (IPF) risk. However, the causality between them still requires further investigation. Therefore, our study aimed to investigate the causal effect of physical activity (PA) and sedentary time on the risk of IPF via two-sample Mendelian randomization (MR) analysis. METHODS: Multiple genome-wide association study (GWAS) data involving individuals of European ancestry were analyzed. The datasets encompassed published UK Biobank data (91,105-377,234 participants) and IPF data (2018 cases and 373,064 controls) from FinnGen Biobank. The inverse variance weighting (IVW) method was the primary approach for our analysis. Sensitivity analyses were implemented with Cochran's Q test, MR-Egger regression, MR-PRESSO global test, and leave-one-out analysis. RESULTS: Genetically predicted self-reported PA was associated with lower IPF risk [OR = 0.27; 95% CI 0.09-0.82; P = 0.02]. No causal effects of accelerometry-based PA or sedentary time on the risk of IPF were observed. CONCLUSIONS: Our findings supported a protective relationship between self-reported PA and the risk for IPF. The results suggested that enhancing PA may be an effective preventive strategy for IPF.


Asunto(s)
Fibrosis Pulmonar Idiopática , Conducta Sedentaria , Humanos , Estudio de Asociación del Genoma Completo , Análisis de la Aleatorización Mendeliana , Ejercicio Físico , Fibrosis Pulmonar Idiopática/diagnóstico , Fibrosis Pulmonar Idiopática/epidemiología , Fibrosis Pulmonar Idiopática/genética
9.
Ann Diagn Pathol ; 67: 152200, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37666011

RESUMEN

Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal tumor that is mainly seen in middle-aged women. PEComa originating in the ureter is extremely rare it is unclear whether they display typical clinical and radiographic features seen elsewhere. Herein, we report findings from 2 cases of primary PEComa of the ureter that we classified as malignant. Case 1: A 45-year-old woman was admitted to the hospital with intermittent distension in her waist. After appropriate imaging, the right ureter and right kidney were excised under general anesthesia. The tumor measured 1.4 cm. Microscopically, the tumor displayed infiltrative growth, >2 mitoses per 10 high power fields (HPF), necrosis, and lympho-vascular invasion. Case 2: A 30-year-old woman was admitted to the hospital due to hematuria 20 days duration. The left ureter and left kidney were ultimately excised under general anesthesia. The tumor measured 2 cm. Microscopically, the tumor showed infiltrative growth and >2 mitoses/10 HPF. Our cases were diagnosed as malignant PEComa. No disease recurrence was observed in either of the two patients during the postoperative follow-up period. Malignant primary ureteral PEComa is very rare. The clinical manifestations are not specific, and it is usually misdiagnosed as a malignant neoplasm on imaging. Therefore, its diagnosis requires pathological examination and immunohistochemical analysis of the sampled or resected tumor. Treatment requires a complete surgical resection and regular clinical follow-up.


Asunto(s)
Neoplasias de los Tejidos Conjuntivo y Blando , Neoplasias de Células Epitelioides Perivasculares , Uréter , Humanos , Persona de Mediana Edad , Femenino , Adulto , Uréter/patología , Recurrencia Local de Neoplasia , Neoplasias de Células Epitelioides Perivasculares/diagnóstico , Neoplasias de Células Epitelioides Perivasculares/cirugía , Neoplasias de Células Epitelioides Perivasculares/patología
11.
Front Oncol ; 13: 990028, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36756158

RESUMEN

Background: Schwannoma is a benign tumor, of which degenerated schwannoma is a subtype. Retroperitoneal schwannomas are extremely rare, as they account for only 3% of retroperitoneal tumors.Degenerated schwannoma is a schwannoma subtype. However,degenerated schwannoma occurring in the adrenal glands is extremely rare. Case summary: Case 1: A 42-year-old man was referred to our hospital for further examination of a left adrenal mass that was incidentally discovered during a routine physical check-up.No significant abnormalities were found in laboratory tests results. Robotic-assisted laparoscopic excision of the left adrenal gland was performed under general anesthesia. Case 2: A 47-year-old man was admitted to the hospital because of a left adrenal mass found on a routine physical examination.The patient was previously in good health, and there was no family history of a similar disorder. Left-sided laparoscopic adrenalectomy was performed under general anaesthesia. Case 3: A 62-year-old woman with hypertension and diabetes mellitus was referred to our hospital after an incidentally found left adrenal mass.There was no family history of a similar disorder. Left-sided laparoscopic adrenalectomy was performed under general anaesthesia. None of the patients had a recurrence in our study during the postoperative follow-up. Conclusion: Degenerated schwannoma of the adrenal glands is very rare. The clinical presentations of degenerated schwannoma are nonspecific; a small number of patients do not have any symptoms, and the mass is only found incidentally during physical examination for any number of reasons. The preoperative diagnosis of adrenal degenerated schwannoma is difficult because the diagnosis must rely on pathological examination and immunohistochemistry assays. The management is surgical excision and regular follow-up.

13.
Ann Diagn Pathol ; 63: 152088, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-36577187

RESUMEN

OBJECTIVE: Mixed epithelial and stromal tumor of the kidney (MESTK) is a rare renal tumor for which there is limited clinical case experience. The aim of this study was to investigate the clinicopathological features, imaging manifestations, immunohistochemical phenotype, diagnosis, and differential diagnosis of MESTK. METHODS: We systematically evaluated the clinicopathological characteristics of 13 patients diagnosed with MESTK from 2016 to 2022. RESULTS: There were 12 female cases and 1 male case, and their age ranged from 24 to 62 (mean age 47 years). The tumor was located in the left kidney in 11 patients. Seven of these patients were located in the upper pole of the left kidney. The mean diameter of the tumor was 4.6 cm (range 1.3-8.6 cm), and the main body of the tumor was mainly located in the medulla or medulla. In 7 cases, the tumors were clearly outlined, 4 cases had clear but irregular borders, and in 3 cases, the masses broke through the renal capsule but did not invade the surrounding organs. All tumors had varying proportions of cystic and solid components. In most tumors, the epithelial cell component was predominant. Among the epithelial components, we observed a predominance of large cysts. Small cysts and tubular structures were also seen; the least common were papillary structures. The most common types of lining epithelium were flat and cuboidal. The cell cytoplasm was predominantly eosinophilic with hyaline degeneration. The tumor cells were composed of different proportions of sparse hypocellular areas and dense hypercellular areas between these cells. In most cases, the cellular stroma had an ovarian-like appearance. It is characterized histologically by mature adipocytes, thick-walled blood vessels, and chronic inflammatory cells. Calcification and collagenization were seen in a few cases. In all female patients, estrogen and progesterone receptors in the interstitial component were almost always positively expressed. In male patients, all interstitial components showed locally positive expression of androgens. CONCLUSION: MESTK had unique characteristics with complex and variable lesion shapes. There was a high degree of overlap with cystic kidney cancer, and the rate of missed and misdiagnosis was extremely high. The diagnosis could not be confirmed by preoperative imaging. The final diagnosis depended on pathomorphology.


Asunto(s)
Carcinoma de Células Renales , Quistes , Neoplasias Renales , Masculino , Femenino , Humanos , Estudios Retrospectivos , Inmunohistoquímica , Neoplasias Renales/patología , Carcinoma de Células Renales/patología , Quistes/patología , Biomarcadores de Tumor/metabolismo , Células del Estroma/patología
14.
Front Oncol ; 12: 1058700, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36505854

RESUMEN

Background: Endometrial stromal sarcoma is a relatively rare malignant tumor that derives from the malignant transformation of primitive uterine mesenchymal cells. It can lead to distant metastases. High-grade endometrial stromal sarcoma is extremely rare. The adrenal glands are an unreported site of metastasis. Case summary: A 71-year-old woman with a diagnosis of endometrial stromal sarcoma 30 months ago. After receiving treatment with radiotherapy and chemotherapy, the patient was kept asymptomatic during the follow-up until 2 years later, when she complained of dyspnea. Pulmonary and right adrenal gland metastases were detected by 18F-FDG PET/CT. The right upper lobe mass was diagnosed as a high-grade endometrial stromal sarcoma metastasis after postoperative pathology. Due to the patient's high risk of surgery, as she had many underlying diseases, we performed adequate preoperative preparation. The physical examination revealed that a hard mass was palpable in the right renal area. The right adrenal mass was resected in our hospital. Immunohistochemistry showed ER (-), PR (-), CD10 (+), P16 (+), Ki-67 (50%). The final diagnosis on pathological examination was a high-grade ESS metastatic to the right adrenal gland. The patient continued treatment in other hospitals after surgical resection. After four months of postoperative follow-up, metastasis was detected again during a PET/CT examination at an outside hospital. Conclusion: Endometrial stromal sarcoma is rare, and the adrenal glands are an unreported site of metastasis. It has no specific clinical symptoms and mainly found for other reasons. The diagnosis still depends on pathology and immunohistochemistry. If there is no relevant past history, it is difficult to exclude a primary adrenal tumor.

15.
World J Clin Cases ; 10(18): 6009-6020, 2022 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-35949860

RESUMEN

BACKGROUND: Although sclerosing adenopathy of the prostate is a very rare benign disease, an effective differential diagnosis is required. Here, we report the clinicopathological and immunohistochemical morphological features of 12 cases of sclerosing adenopathy of the prostate to improve understanding of the disease. AIM: To investigate the clinicopathological features, diagnosis, and immunohistochemical phenotypes that distinguish prostate sclerosing adenopathy from other conditions. METHODS: The clinical data, laboratory tests, pathological morphology, and immunohistochemical phenotypes of 12 cases of prostatic sclerosing adenopathy were retrospectively analyzed, and the relevant literature was reviewed. RESULTS: All patients were elderly men (mean age, 71.7 years; 62-83 years). Eleven of them had hematuria, urinary frequency, urinary urgency, difficulty in urination, and serum total prostate-specific antigen values within the normal range. One patient had increased blood pressure. Enlarged prostates with single to multiple calcifying foci were observed. Moreover, prostate tissue hyperplastic changes were observed in all patients. Small follicular hyperplastic nodules without an obvious envelope, with a growth pattern mimicking the infiltration pattern of "prostate adenocarcinoma" were noted. Basal cells expressed AR, CKH, P63, and CK5/6, and myoepithelial markers, such as calponin, S100, and smooth muscle actin. No recurrence or exacerbation of the lesions was observed, except for one case of death due to bladder cancer. CONCLUSION: Prostatic sclerosing adenopathy is highly misdiagnosed as prostate adenocarcinoma or other tumor-like lesions. Therefore, it should attract the attention of clinicopathologic researchers.

16.
J Oncol ; 2022: 1802706, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35498536

RESUMEN

Background. Bladder cancer (BLCA) is a highly malignant tumor that develops in the urinary system. Identification of biomarkers in progression and prognosis is crucial for the treatment of BLCA. BLCA-related differentially expressed genes (DEGs) were authenticated by screening the DEGs and weighted gene coexpression network analysis (WGCNA). LASSO and SVM-RFE algorithms were utilized to screen the feature genes in BLCA. Survival analysis was performed using the Kaplan-Meier curve provided by the 'survival' R package. The BLCA samples were clustered by hclust based on the immune score matrix calculated by the single-sample GSEA (ssGSEA) algorithm. The immune, stromal, and ESTIMATE scores of each BLCA patient were calculated by applying the ESTIMATE algorithm. ssGSEA was conducted to explore the function of characteristic genes in BLCA. The expression of characteristic genes in clinical cancer tissue, and the pericancerous tissue of BLCA patients was verified using qRT-PCR assays. A total of 189 BLCA-related DEGs were identified. Fourteen feature genes were defined by LASSO and SVM-RFE algorithms. Five characteristic genes, including SMYD2, GAPDHP1, ATP1A2, CILP, and THSD4, were related to the OS of BLCA. The correlation analysis of five characteristic genes and clinicopathological factors showed that five genes played a role in the progression of BLCA. Additionally, the expression of five characteristic genes in clinical cancer tissues and pericarcinomatous tissues from BLCA patients was verified by qRT-PCR, which was consistent with the result from the public database. Finally, we discovered five prognostic genes linked to BLCA progression, which might serve as a theoretical basis for prognosis and treatment targets for BLCA patients.

17.
Ann Diagn Pathol ; 58: 151908, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35149286

RESUMEN

OBJECTIVE: To explore the clinicopathological characteristics, immunohistochemical phenotype, diagnosis and differential diagnosis of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion. METHODS: The clinical history, pathological morphology, immunohistochemical phenotype and related molecular test results of 13 cases of Xp11.2 translocation/TFE3 gene fusion-related renal cell carcinoma were retrospectively analyzed, and the relevant literature was reviewed. RESULTS: Of the 13 patients, 5 were males and 8 were females. The age of onset ranges from 8 to 73 years old, most of which were middle-aged and elderly patients. Among them, there were 3 cases of left kidney tumor and 10 cases of right kidney tumor. In the treatment method, 2 of the 13 patients underwent partial nephrectomy, and 11 underwent radical nephrectomy. Histopathological morphology showed papillary, nested, tubular and acinar structures. The cytoplasm was transparent or eosinophilic, and the interstitial fibrosis was accompanied by chronic inflammatory cell infiltration, hemosiderin deposition and foam cell aggregation. The immunohistochemical analysis of 13 patient specimens all expressed TFE3 antibody, and the expression intensity was strongly positive; gene FISH detection technology revealed the breakage and rearrangement of TFE3 gene in 12 assessable cases. One of thirteen patients had a metastasis at follow-up from 3 to 69 months. CONCLUSIONS: This type of kidney cancer was a rare subtype. Because of its complex and changeable shape, it has a high degree of overlap with other kidney cancer subtypes, and the missed diagnosis rate and misdiagnosis rate are extremely high. The diagnosis is mainly based on pathomorphology and immunohistochemistry, TFE3 positive expression and TFE3 gene destruction and rearrangement.


Asunto(s)
Carcinoma de Células Renales , Neoplasias Renales , Anciano , Factores de Transcripción Básicos con Cremalleras de Leucinas y Motivos Hélice-Asa-Hélice/genética , Carcinoma de Células Renales/diagnóstico , Carcinoma de Células Renales/genética , Carcinoma de Células Renales/patología , Cromosomas Humanos X/química , Cromosomas Humanos X/genética , Femenino , Fusión Génica , Humanos , Hibridación Fluorescente in Situ , Neoplasias Renales/diagnóstico , Neoplasias Renales/genética , Neoplasias Renales/patología , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Translocación Genética
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