-
Cancers Feb 2024Image-guided renal mass biopsy is gaining increased diagnostic acceptance, but there are limited data concerning the safety and diagnostic yield of biopsy for small...
INTRODUCTION
Image-guided renal mass biopsy is gaining increased diagnostic acceptance, but there are limited data concerning the safety and diagnostic yield of biopsy for small renal masses (≤4 cm). This study evaluated the safety, diagnostic yield, and management after image-guided percutaneous biopsy for small renal masses.
METHODS
A retrospective IRB-approved study was conducted on patients who underwent renal mass biopsy for histopathologic diagnosis at a single center from 2015 to 2021. Patients with a prior history of malignancy or a renal mass >4 cm were excluded. Descriptive statistics were used to summarize patient demographics, tumor size, the imaging modality used for biopsy, procedure details, complications, pathological diagnosis, and post-biopsy management. A biopsy was considered successful when the specimen was sufficient for diagnosis without need for a repeat biopsy. Complications were graded according to the SIR classification of adverse events. A chi-squared test (significance level set at ≤ 0.05) was used to compare the success rate of biopsies in different lesion size groups.
RESULTS
A total of 167 patients met the inclusion criteria. The median age was 65 years (range: 26-87) and 51% were male. The median renal mass size was 2.6 cm (range: one-four). Ultrasound was solely employed in 60% of procedures, CT in 33%, a combination of US/CT in 6%, and MRI in one case. With on-site cytopathology, the median number of specimens obtained per procedure was four (range: one-nine). The overall complication rate was 5%. Grade A complications were seen in 4% ( = 7), consisting of perinephric hematoma ( = 6) and retroperitoneal hematoma ( = 1). There was one grade B complication (0.5%; pain) and one grade D complication (0.5%; pyelonephritis). There was no patient mortality within 30 days post-biopsy. Biopsy was successful in 88% of cases. A sub-group analysis showed a success rate of 85% in tumors <3 cm and 93% in tumors ≥3 cm ( = 0.01). Pathological diagnoses included renal cell carcinoma (65%), oncocytoma (18%), clear cell papillary renal cell tumors (9%), angiomyolipoma (4%), xanthogranulomatous pyelonephritis (1%), lymphoma (1%), high-grade papillary urothelial carcinoma (1%), and metanephric adenoma (1%), revealing benign diagnosis in 30% of cases. The most common treatment was surgery (40%), followed by percutaneous cryoablation (22%). In total, 37% of patients were managed conservatively, and one patient received chemotherapy.
CONCLUSION
This study demonstrates the safety and diagnostic efficacy of image-guided biopsy of small renal masses. The diagnostic yield was significantly higher for masses 3-4 cm in size compared to those <3 cm. The biopsy results showed a high percentage of benign diagnoses and informed treatment decisions in most patients.
PubMed: 38398226
DOI: 10.3390/cancers16040835 -
Medicina (Kaunas, Lithuania) Feb 2024A primary liver perivascular epithelioid cell tumor (PEComa) is an extremely rare entity. In this article, we present a case report with a review of the literature on... (Review)
Review
A primary liver perivascular epithelioid cell tumor (PEComa) is an extremely rare entity. In this article, we present a case report with a review of the literature on the patients diagnosed with primary liver PEComa and an elaboration of diagnostic and treatment modalities. A systematic literature search was conducted using the terms "perivascular epithelioid cell tumor", "PEComa", "liver", and "hepatic". All articles describing patients diagnosed with primary liver PEComa were included. We identified a total of 224 patients of primary liver PEComa from 75 articles and a case from the present study with a significant preponderance of females (ratio 4:1) and with a mean age of 45.3 ± 12.1 years. Most of the patients (114 out of 224, 50.9%) were asymptomatic. A total of 183 (81.3%) patients underwent surgical hepatic resection at the time of diagnosis, while 19 (8.4%) underwent surveillance. Recurrence and metastases were detected in seven (3.1%) and six (2.7%) patients, respectively. In conclusion, surgical resection remains the cornerstone of therapy; however, the presence of nonspecific imaging features makes it difficult to reach a definite diagnosis preoperatively. Therefore, a multidisciplinary approach should be the gold standard in selecting the treatment modality.
Topics: Female; Humans; Adult; Middle Aged; Gastrointestinal Neoplasms; Liver Neoplasms; Perivascular Epithelioid Cell Neoplasms; Angiomyolipoma
PubMed: 38541135
DOI: 10.3390/medicina60030409 -
Medicine Oct 2023Angiomyolipoma is a mesenchymal tumor composed of blood vessels, smooth muscle, and mature adipose tissue. It is most commonly found in the kidney, and is rare outside...
RATIONALE
Angiomyolipoma is a mesenchymal tumor composed of blood vessels, smooth muscle, and mature adipose tissue. It is most commonly found in the kidney, and is rare outside the kidney, especially in the mediastinum. Only about 12 cases have been reported worldwide so far.
PATIENT CONCERNS
We report a young female patient who had been found with a left thoracic mass for 19 years. In the past 19 years, the patient had no chest pain, dyspnea and other symptoms, but this time she visited the doctor because of cough, and there were no other clinical signs.
DIAGNOSES
The patient underwent computed tomography plain scan and enhanced scan after admission with imaging manifestations of a mixed density mass in the left chest cavity, calcification and fat density in the inside, and tortuous blood vessels after enhancement. Combined with imaging, the diagnosis was teratoma, not excluding hamartoma.
INTERVENTIONS
The patient underwent a central open thoracic giant mass resection.
OUTCOMES
The postoperative pathology confirmed that it was angiomyolipoma originating from anterior mediastinum invasion of the left chest cavity, and no clear recurrence was seen after 1 year of postoperative follow-up.
LESSONS
Angiomyolipomas in the mediastinum are rare, especially those that invade the thorax. This article describes the clinical, imaging and pathological features of the patient in detail, which improves the understanding of the disease of clinical and imaging doctors, and provides a basis for the differential diagnosis of mediastinal lesions.
Topics: Humans; Female; Mediastinum; Angiomyolipoma; Mediastinal Neoplasms; Tomography, X-Ray Computed; Kidney Neoplasms; Hamartoma
PubMed: 37904415
DOI: 10.1097/MD.0000000000035786 -
International Journal of Surgery Case... Apr 2024Hepatic angiomyolipoma (HAML) is a rare liver tumor composed of blood vessels, smooth muscle, and fat cells. HAML occurs across a wide age range, with symptoms including...
INTRODUCTION AND IMPORTANCE
Hepatic angiomyolipoma (HAML) is a rare liver tumor composed of blood vessels, smooth muscle, and fat cells. HAML occurs across a wide age range, with symptoms including abdominal discomfort, bloating, and weight loss. Diagnosis is challenging due to varied imaging appearances, but histopathological examination supplemented by immunohistochemical analysis, particularly using HMB-45, is definitive.
CASE PRESENTATION
A 33-year-old man presented with a two-year history of right upper quadrant abdominal pain, occasionally relieved with analgesics but worsening over the past month and a half. Examinations revealed a soft, non-distended abdomen with a palpable liver. Laboratory tests, including viral markers and tumor markers were normal. Contrast-enhanced CT revealed a well-defined oval mass in liver segment III with heterogeneous enhancement leading to provisional diagnosis of HAML. The patient underwent a successful en bloc excision with no intraoperative or postoperative complications.
CLINICAL DISCUSSION
Surgical resection is recommended for symptomatic cases or inconclusive biopsies, with stringent follow-up necessary due to the potential for recurrence and association with other malignancies.
CONCLUSION
HAML may present with prolonged nonspecific abdominal symptoms. CT imaging aids in diagnosing cases with abundant fatty tissue. En bloc tumor excision proves safe and effective in treating symptomatic presentations.
PubMed: 38479126
DOI: 10.1016/j.ijscr.2024.109516 -
Cureus Feb 2024Hepatic angiomyolipoma (HAML) is a rare benign mesenchymal tumor with varying amounts of mature adipose tissue, smooth muscle cells, and thick-walled blood vessels. We...
Hepatic angiomyolipoma (HAML) is a rare benign mesenchymal tumor with varying amounts of mature adipose tissue, smooth muscle cells, and thick-walled blood vessels. We present a rare case of hepatic angiomyolipoma (AML) with predominant lipomatous components. A 42-year-old female presented to the hospital with pain in the right lumbar region. On imaging, there was a large fat-predominant mass attached to the surface of the liver extending down to the lumbar region. On small biopsy, it was reported as a well-differentiated adipocytic neoplasm, and fluorescence in situ hybridization (FISH) studies performed for were negative. On excision, histopathological examination showed predominantly fat components, but there were few epithelioid cells between adipocytes and thick-walled blood vessels. These cells were positive for Melan-A, HMB45, and smooth muscle actin (SMA) and negative for hepatocyte paraffin-1 (Hep Par1). Angiomyolipoma is a benign tumor and has a good prognosis with surgical excision. Few cases are associated with tuberous sclerosis.
PubMed: 38510893
DOI: 10.7759/cureus.54357 -
The British Journal of Radiology Sep 2023Renal lesions are sometimes incidentally detected during computed tomography (CT) examinations in which an unenhanced series is not included, preventing the lesions from...
OBJECTIVES
Renal lesions are sometimes incidentally detected during computed tomography (CT) examinations in which an unenhanced series is not included, preventing the lesions from being fully characterized. The aim of this study was to investigate the feasibility to use virtual non-contrast (VNC) images, acquired using a detector-based dual-energy CT, for the characterization of renal lesions.
METHODS
Twenty-seven patients (12 women) underwent a renal CT scan, including a non-contrast, an arterial, and a venous phase contrast-enhanced series, using a detector-based dual-energy CT scanner. VNC images were reconstructed from the venous contrast-enhanced series. The mean attenuation values of 65 renal lesions in both the VNC and true non-contrast (TNC) images were measured and compared quantitatively. Three radiologists blindly assessed all lesions using either VNC or TNC images in combination with contrast-enhanced images.
RESULTS
Sixteen patients had cystic lesions, five had angiomyolipoma (AML), and six had suspected renal cell carcinomas (RCC). Attenuation values in VNC and TNC images were strongly correlated (ρ = 0.7, mean difference -6.0 ± 13 HU). The largest differences were found for unenhanced high-attenuation lesions. Radiologists classified 86% of the lesions correctly using VNC images.
CONCLUSIONS
In 70% of the patients, incidentally detected renal lesions could be accurately characterized using VNC images, resulting in less patient burden and a reduction in radiation exposure.
ADVANCES IN KNOWLEDGE
This study shows that renal lesions can be accurately characterized using VNC images acquired by detector-based dual-energy CT, which is in agreement with previous studies using dual-source and rapid X-ray tube potential switching technique.
Topics: Humans; Female; Tomography, X-Ray Computed; Kidney; Kidney Neoplasms; Veins; Carcinoma, Renal Cell; Retrospective Studies; Radiography, Dual-Energy Scanned Projection; Contrast Media
PubMed: 37334964
DOI: 10.1259/bjr.20220157 -
Orphanet Journal of Rare Diseases Mar 2024Tuberous sclerosis complex (TSC) is a rare inherited disease with the potential to affect virtually every organ system. Clinical presentation is age- and partly...
Tuberous sclerosis complex (TSC) is a rare inherited disease with the potential to affect virtually every organ system. Clinical presentation is age- and partly sex-dependent and varies broadly with respect to disease manifestations including treatment-refractory epilepsy, intellectual disability and TSC-associated neuropsychiatric disorders, chronic kidney disease or progressive lung function decline. Given the complexity of this disease, multidisciplinary care in specialized TSC centres is recommended. We aimed to elucidate the state of knowledge of patients/caregivers and physicians on individual disease manifestations. We further examined whether the association to a TSC centre has an impact on the comprehensive consideration of potential disease manifestations. Therefore, a survey was performed in a cohort of German TSC patients and their physicians. Complete information was available for 94 patients with a median age of 18 years [range 1-55] and a sex distribution of 53.2% (male): 48.8% (female). Using almost identical questionnaires for patients/caregivers and their respective physician, there was a good correlation for disease assessments associated with relevant morbidity and mortality like epilepsy, renal angiomyolipoma, cardiac rhabdomyomas or intellectual disability. Correlation was moderate for several neuropsychiatric disorders and only poor for hypomelanotic macules, dental pits or retinal achromic patches. Estimation of overall disease severity using a numeric rating scale correlated highly significantly (Pearson correlation coefficient = 0.767; p < 0.001) between patients/caregivers and physicians. In general, physicians more likely quoted items as 'unknown' than patients (822 answers vs. 435 answers in the respective groups). Questionnaires completed by physicians who were associated with a specialized TSC centre declared a significantly lower proportion of items as unknown (mean 8.7% vs. 20.5%; p < 0.001). These findings indicate that patients treated by specialized TSC centres seem to obtain a more comprehensive surveillance. Furthermore, it shows that there were reasonable surveillance strategies in general and sufficient patient/caregiver interaction and education in the examined cohort. However, for the most prominent disease characteristics there was a good awareness within both the patients/caregivers and the physicians group.
Topics: Humans; Male; Female; Infant; Child, Preschool; Child; Adolescent; Young Adult; Adult; Middle Aged; Angiomyolipoma; Tuberous Sclerosis; Intellectual Disability; Kidney Neoplasms; Patient Acuity; Physicians
PubMed: 38459571
DOI: 10.1186/s13023-024-03118-9 -
Urology Case Reports May 2024Tuberous sclerosis complex (TSC) is a genetically inherited disorder distinguished by the development of numerous benign neoplasms across multiple organ systems. Renal...
Tuberous sclerosis complex (TSC) is a genetically inherited disorder distinguished by the development of numerous benign neoplasms across multiple organ systems. Renal angiomyolipoma represents 0.3% of all primary renal tumors and are classified as benign mixed mesenchymal neoplasms. In this report, we reported the clinical presentation of a 28-year-old individual who was received by the department of urology. The patient was admitted presenting with asymptomatic, macroscopic hematuria that had been ongoing for a period of 10 days. Subsequent diagnostic evaluations revealed an association between the presenting urinary condition and tuberous sclerosis complex with a concurrent renal angiomyolipom.
PubMed: 38827532
DOI: 10.1016/j.eucr.2024.102705 -
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 -
Frontiers in Surgery 2023Hepatic angiomyolipoma is a rare and possibly cancerous mesenchymal tumor that consists of three components: blood vessels, smooth muscle cells, and adipose tissue. In...
Hepatic angiomyolipoma is a rare and possibly cancerous mesenchymal tumor that consists of three components: blood vessels, smooth muscle cells, and adipose tissue. In this paper, we reported a case of a 36-year-old man who had a giant hepatic angiomyolipoma with spontaneous rupture and hemorrhage. The patient was admitted to our hospital with sudden upper abdominal pain for 3 h. A giant tumor was found in the left and caudate lobes of the liver, as well as significant blood collection around the liver and in the pelvis. Hemoglobin, liver function test results, and serum tumor maker levels were all within normal ranges. To prevent bleeding, emergency angiography and embolization were performed. During angiography, it was discovered that the tumor was supplied by the left hepatic artery and had a very rich internal blood supply. A massive left hepatic mass of about 11 cm in diameter was found bulging from the surface of the liver and rupturing there during laparoscopic exploration a week later. The rupture was strongly adhered to the smaller curvature of the stomach. The patient underwent laparoscopic left hemihepatectomy and caudate lobectomy, and the tumor specimen was brown, with clear boundaries with the surrounding normal liver parenchyma, and there were a large number of necrotic lesions inside the tumor. Histopathological results confirmed the mass as hepatic angiomyolipoma with negative resection margins. Immunohistochemical staining indicated that the tumor had positive homatropine methylbromide-45. After 13 months of follow-up, no tumor recurrence or metastasis occurred in the patient.
PubMed: 38186388
DOI: 10.3389/fsurg.2023.1329535