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Archivos Espanoles de Urologia Jan 2024This study aims to analyse the clinical value of computed tomography (CT) scanning parameters combined with serum teratoma-derived growth factor-1 () in the diagnosis of...
OBJECTIVE
This study aims to analyse the clinical value of computed tomography (CT) scanning parameters combined with serum teratoma-derived growth factor-1 () in the diagnosis of renal cell carcinoma (RCC).
METHODS
A retrospective analysis was conducted on 256 patients with renal tumour admitted to our hospital from July 2020 to December 2022. They were divided into malignant group (n = 180) and benign group (n = 76) based on the final pathological results. All subjects underwent CT scans and serum testing. The CT signs and serum levels of the patients were analysed, and their diagnostic efficacy was evaluated.
RESULTS
The pathological diagnosis results showed 180 cases of malignant tumours, including 73 cases of clear cell carcinoma, 60 cases of papillary RCC and 47 cases of chromophobe cell carcinoma as well as 76 cases of benign tumour, including 31 cases of renal angiomyolipoma, 25 cases of eosinophilic tumour and 20 cases of renal fibroma. The malignant group had significantly higher incidence of cystic necrosis, uneven enhancement and rapid progression than the benign group ( < 0.01). The incidence of calcification was not statistically different between the two groups ( > 0.05). The malignant group had lower CT value of focus ( < 0.01) and relative corrected CT value of the renal cortex ( < 0.05), and significantly higher serum levels of ( < 0.01) than the malignant group. The area under the curve of the combined diagnosis was significantly higher than that of serum alone and comprehensive diagnosis of CT parameters ( < 0.001, = 0.002). The sensitivity of the combined diagnosis was also higher than that of serum and CT parameters alone.
CONCLUSIONS
The combination of CT scanning parameters and serum has high value in the diagnosis of renal tumours, and the area under the curve and sensitivity of the combined diagnosis are high. This work provides reference for clinical diagnosis and treatment of renal tumours.
Topics: Humans; Carcinoma, Renal Cell; Kidney Neoplasms; Retrospective Studies; Angiomyolipoma; Tomography, X-Ray Computed; Diagnosis, Differential; Intercellular Signaling Peptides and Proteins
PubMed: 38374009
DOI: 10.56434/j.arch.esp.urol.20247701.3 -
Medicine Feb 2024Tuberous sclerosis complex (TSC) is a rare autosomal dominant inherited disorder characterized by the development of nonmalignant tissue growths (hamartomas) in various...
RATIONALE
Tuberous sclerosis complex (TSC) is a rare autosomal dominant inherited disorder characterized by the development of nonmalignant tissue growths (hamartomas) in various organ systems, often located in the brain, skin, heart, lung and kidneys. The delayed diagnosis could be attributed to low expectation or exposure of physicians to this rare disease. High index of clinical suspicion is required for early diagnosis of rare diseases to prevent adverse outcomes.
PATIENT CONCERNS
The first patient, a 27-year-old man, presented with intermittent left flank pain and hematuria of 5 months duration. On examination of the skin and oral cavity, he had fibrous cephalic plaque, facial angiofibromas, ungual fibromas, confetti skin lesions, and intraoral fibromas. A CT scan of the chest, abdomen, and brain displayed cystic lung parenchymal changes and multifocal micronodular pneumocyte hyperplasia, angiomyolipomas in both kidneys, and multiple calcified subependymal nodules (SEN), respectively. The second patient, a 28-year-old woman, presented with a seizure disorder in the last 1 year, and papular and nodular lesions over her face since childhood. On examination of the skin and oral cavity, she had hypomelanotic macules, facial angiofibromas, shagreen patches, ungual fibromas, intraoral fibromas, and dental enamel pits.
DIAGNOSES
Definitive diagnosis of TSC was made in both patients using the "2012 tuberous sclerosis complex diagnostic criteria consensus statement."
INTERVENTIONS
The first patient was seen by various medical discipline teams, and suggested close follow-up in the "chronic illness clinic" of the hospital. The second patient was scheduled in dermatology clinic for electrocautery for disfiguring facial nodules.
OUTCOME
Both patients were scheduled for close follow-up in the hospital.
LESSONS
The patients described had TSC using "clinical diagnostic criteria." Under the clinical diagnostic criteria of TSC, 4 of 11 major criteria and 3 of 7 minor criteria are skin features. Hence, awareness on skin features as clinical markers to suspect TSC should be emphasized in resource-limited countries.
Topics: Adult; Female; Humans; Male; Angiofibroma; Fibroma; Hamartoma; Hyperplasia; Skin; Skin Diseases; Tuberous Sclerosis
PubMed: 38335392
DOI: 10.1097/MD.0000000000037135 -
Cureus Jan 2024Renal angiomyolipomas, common benign tumors, can exhibit slow growth in sporadic cases or have aggressive tendencies when linked to genetic conditions like tuberous...
Renal angiomyolipomas, common benign tumors, can exhibit slow growth in sporadic cases or have aggressive tendencies when linked to genetic conditions like tuberous sclerosis. This case report focuses on the exceptionally rare angiomyolipoma with epithelial cysts (AMLEC) variant, particularly challenging to diagnose due to its scarcity. Describing a 41-year-old woman's case, initially suspected to be renal cell carcinoma during an infertility evaluation, subsequent partial nephrectomy revealed a tumor comprising smooth muscle, blood vessels, and fat, with cystic regions featuring cuboidal linings and a layer devoid of abnormal cell activity. Immunohistochemistry confirmed specific markers within different tumor components, highlighting the diagnostic complexities of AMLEC and emphasizing the crucial role of histopathological examinations in accurate characterizations.
PubMed: 38327970
DOI: 10.7759/cureus.51824 -
AJOG Global Reports Feb 2024Lymphangioleiomyomatosis is a rare cystic lung disease primarily affecting premenopausal females and may be exacerbated by pregnancy. We conducted a literature review of...
Lymphangioleiomyomatosis is a rare cystic lung disease primarily affecting premenopausal females and may be exacerbated by pregnancy. We conducted a literature review of lymphangioleiomyomatosis during pregnancy with a specific focus on related maternal morbidity and obstetrical outcomes. We also report a case of lymphangioleiomyomatosis that presented as an acute spontaneous pneumothorax in the third trimester of pregnancy, followed by significant maternal morbidity. A 37-year-old primigravid woman who presented at 29 weeks 5 days gestation with chest pain was diagnosed with spontaneous pneumothorax. Further imaging demonstrated cystic lung lesions and renal angiomyolipomas. She developed severe abdominal pain concerning for placental abruption that led to an urgent cesarean delivery at 30 weeks 2 days gestation. Her course was complicated by recurrent pneumothorax, superimposed preeclampsia, and significant ileus and bowel dilation complicated by bowel perforation. For patients with a clinical suspicion of lymphangioleiomyomatosis in pregnancy, prompt recognition, diagnosis, and referral to appropriate multidisciplinary subspecialists is critical to mitigate complications and optimize outcomes both during and after pregnancy.
PubMed: 38327672
DOI: 10.1016/j.xagr.2024.100309 -
Radiology Case Reports Apr 2024Liposarcomas are infrequent malignant tumors of mesenchymal origin most commonly seen in the extremities. Although infrequent, these can develop as primary lesions in...
Liposarcomas are infrequent malignant tumors of mesenchymal origin most commonly seen in the extremities. Although infrequent, these can develop as primary lesions in the soft tissue of the kidney, making them difficult to diagnose through imaging modalities alone. Primary renal liposarcomas are associated with poor prognoses, increasing the importance of timely and accurate diagnosis. In extremely rare instances, the tumor can arise directly from the fat in the epicenter of the kidney, disguised as an angiomyolipoma. In this article, we report the case of a 54-year-old female who was diagnosed with a well-differentiated liposarcoma of the kidney and underwent radical nephrectomy. Our objective is to evaluate unique radiological imaging findings and correlate with histopathological analysis to optimize diagnosis.
PubMed: 38312755
DOI: 10.1016/j.radcr.2024.01.018 -
Asian Journal of Surgery May 2024
Topics: Female; Humans; Kidney Neoplasms; Nephrectomy; Perivascular Epithelioid Cell Neoplasms; Tomography, X-Ray Computed; Adult
PubMed: 38278727
DOI: 10.1016/j.asjsur.2024.01.111 -
Cureus Jan 2024[This retracts the article DOI: 10.7759/cureus.19908.].
[This retracts the article DOI: 10.7759/cureus.19908.].
PubMed: 38274582
DOI: 10.7759/cureus.r102 -
Diagnostic Pathology Jan 2024Epithelioid angiomyolipoma (EAML) is a rare variant of angiomyolipoma that predominantly consists of epithelioid cells and belongs to the perivascular epithelioid cell...
BACKGROUND
Epithelioid angiomyolipoma (EAML) is a rare variant of angiomyolipoma that predominantly consists of epithelioid cells and belongs to the perivascular epithelioid cell neoplasm (PEComa) family. The majority of EAMLs arise in the kidneys, and primary hepatic EAML appears to be much less common than renal EAML. Most PEComas arise sporadically, but may be associated with tuberous sclerosis complex (TSC), an autosomal dominant genetic disorder characterized by germline mutations in the TSC1 or TSC2 genes. However, PEComas have previously been reported in five patients with Li-Fraumeni syndrome (LFS), which is an inherited cancer susceptibility disorder resulting from germline mutations in the TP53 tumor suppressor gene.
CASE PRESENTATION
We report a 49-year-old female patient with hepatic EAML and pancreatic cancer. Because she had previously been diagnosed with bilateral breast cancer at the age of 30, we performed a comprehensive genetic analysis to identify genetic alterations associated with any cancer predisposition syndrome. Whole-exome sequencing of a blood sample identified a heterozygous germline variant of TP53 (NM_000546.5):c.708C>A, and targeted next-generation sequencing of liver EAML and pancreatic cancer tissue samples demonstrated the same TP53 (NM_000546.5):c.708C>A variant in both. This, plus the patient's history of early-onset breast cancer, met the 2015 version of the Chompret criteria for diagnosis of LFS.
CONCLUSIONS
There have been very few case reports regarding the presence of PEComa in LFS, and to the best of our knowledge, this is the first report of EAML of the liver in a patient with LFS.
Topics: Female; Humans; Middle Aged; Li-Fraumeni Syndrome; Angiomyolipoma; Liver Neoplasms; Kidney Neoplasms; Genetic Predisposition to Disease; Breast Neoplasms; Pancreatic Neoplasms
PubMed: 38243242
DOI: 10.1186/s13000-023-01418-5 -
Journal of Ultrasound Mar 2024Incidental findings of renal masses are increasing. However, a substantial portion of surgically treated renal masses turn out to be benign on histopathological... (Review)
Review
Incidental findings of renal masses are increasing. However, a substantial portion of surgically treated renal masses turn out to be benign on histopathological examination. Thus, there is a clear need for improved pre-surgical assessment to minimize unnecessary invasive procedures. The challenge intensifies when distinguishing between renal cell carcinoma (RCC) and angiomyolipoma (AML) in renal lesions smaller than 4 cm with minimal adipose tissue. In such cases, contrast-enhanced ultrasound (CEUS) has emerged as a valuable diagnostic tool, by utilizing both qualitative and quantitative parameters. Quantitative measures offer objectivity, reliability, and reproducibility compared to qualitative parameters, enabling the characterization of RCC subtypes and differentiation from AML. Qualitative features as enhancement pattern, degree, and peak were less helpful in distinguishing triphasic minimal fat AML (TAML) from epithelioid AML (EAML), with the pseudocapsule sign potentially being the only distinguishing qualitative feature. The pseudocapsule sign was more frequently observed in ccRCCs (38.0%) than in AMLs (15.6%). Moreover, it was detected in 40.0% of EAMLs and 34.5% of ccRCCs but not in TAMLs due to similar growth patterns between EAMLs and low-grade ccRCCs. Quantitative measures such as the time-to-peak (TTP) ratio can further enhance diagnostic accuracy and also TOC ratio should be considered, as it was higher in clear cell RCCs (ccRCCs) and in EAMLs compared to TAMLs, indicating behavior similar to ccRCCs. However, CEUS remains an operator-dependent exam.
Topics: Humans; Carcinoma, Renal Cell; Reproducibility of Results; Angiomyolipoma; Kidney Neoplasms; Leukemia, Myeloid, Acute
PubMed: 38238503
DOI: 10.1007/s40477-023-00852-x -
Radiology Case Reports Mar 2024Angiomyolipomas are benign renal hamartomas with - fat, smooth muscle, and abnormal blood vessel (tortuous, dysmorphic) components. The risk of hemorrhage is related to...
Angiomyolipomas are benign renal hamartomas with - fat, smooth muscle, and abnormal blood vessel (tortuous, dysmorphic) components. The risk of hemorrhage is related to size of the tumor, presence of aneurysm, associations with tuberous sclerosis. In this case report we review the case of a 42-year-old woman presenting with acute flank pain and decreased hemoglobin, who was diagnosed with AML with right renal artery pseudo aneurysm on CT. Subsequent coil embolization of feeding vessels and using PVA particles was successfully done. Selective embolization remains a minimally invasive, attractive option, and a nephron sparing approach.
PubMed: 38226046
DOI: 10.1016/j.radcr.2023.11.077