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Medicina (Kaunas, Lithuania) Jan 2021The detection of a renal mass is a relatively frequent occurrence in the daily practice of any Radiology Department. The diagnostic approaches depend on whether the... (Review)
Review
The detection of a renal mass is a relatively frequent occurrence in the daily practice of any Radiology Department. The diagnostic approaches depend on whether the lesion is cystic or solid. Cystic lesions can be managed using the Bosniak classification, while management of solid lesions depends on whether the lesion is well-defined or infiltrative. The approach to well-defined lesions focuses mainly on the differentiation between renal cancer and benign tumors such as angiomyolipoma (AML) and oncocytoma. Differential diagnosis of infiltrative lesions is wider, including primary and secondary malignancies and inflammatory disease, and knowledge of the patient history is essential. Radiologists may establish a possible differential diagnosis based on the imaging features of the renal masses and the clinical history. The aim of this review is to present the contribution of the different imaging techniques and image guided biopsies in the diagnostic management of cystic and solid renal lesions.
Topics: Abscess; Adenoma; Adenoma, Oxyphilic; Angiomyolipoma; Carcinoma, Renal Cell; Carcinoma, Transitional Cell; Contrast Media; Cysts; Humans; Kidney Diseases; Kidney Neoplasms; Leiomyoma; Lymphoma; Magnetic Resonance Imaging; Plasmacytoma; Pyelonephritis; Pyelonephritis, Xanthogranulomatous; Tomography, X-Ray Computed; Ultrasonography; Ultrasonography, Doppler, Color
PubMed: 33435540
DOI: 10.3390/medicina57010051 -
Revista Da Associacao Medica Brasileira... Aug 2019Angiomyolipoma is one of the most common benign solid renal tumors. We investigated the characteristics of renal angiomyolipomas and the clinical outcomes of patients in...
INTRODUCTION
Angiomyolipoma is one of the most common benign solid renal tumors. We investigated the characteristics of renal angiomyolipomas and the clinical outcomes of patients in the last thirteen years.
METHODS
The medical records of the patients who underwent nephrectomy were reviewed retrospectively from July 2005 to May 2018. The laboratory data, radiology, and pathology reports were recorded. Patients diagnosed with angiomyolipoma were included in the study.
RESULTS
A total of 28 patients were included in the study, eight of them male. The mean age of the patients was 55.89+14.49 years. The patients were treated with open and laparoscopic techniques. Partial nephrectomy was performed in 12 patients(42.85%). After pathological examination, 23 patients were diagnosed as fat rich, four patients as fat poor, and one as epithelioid angiomyolipoma. There were no recurrences in the follow-up 91.21+48.31 months.
CONCLUSION
Angiomyolipoma is a rare renal tumor in daily urology practice. Clinicians must be aware of its complications and manage patients well.
Topics: Adult; Aged; Angiomyolipoma; Female; Humans; Immunohistochemistry; Kidney Neoplasms; Magnetic Resonance Imaging; Male; Middle Aged; Nephrectomy; Retrospective Studies; Tumor Burden
PubMed: 31389508
DOI: 10.1590/1806-9282.65.7.977 -
Der Pathologe Feb 2021Lymphangioleiomyomatosis (LAM) is a rare lung disease that mostly occurs in female patients. A total of 200-400 people are assumed to be infected in Germany.... (Review)
Review
Lymphangioleiomyomatosis (LAM) is a rare lung disease that mostly occurs in female patients. A total of 200-400 people are assumed to be infected in Germany. A sporadic form and a form associated with the tuberous sclerosis complex (TSC) can be separated. Mutations of the TSC‑1 and TSC‑2 genes are relevant. Morphologically, pulmonary multicysts and marginal micronodal proliferations of LAM cells are characteristic. Combinations with renal angiomyolipoma are typical and, in cases with TSC glioma, facial angiofibroma and ungual fibroma are seen. Prognosis is favorable (10-year survival: 80%) and with the use of mTORC1 inhibitors it could be improved. Lung transplantation can be considered in some cases.
Topics: Female; Humans; Angiomyolipoma; Germany; Kidney Neoplasms; Lung Neoplasms; Lymphangioleiomyomatosis; Tuberous Sclerosis Complex 2 Protein; Tumor Suppressor Proteins
PubMed: 33420570
DOI: 10.1007/s00292-020-00901-w -
Radiologie (Heidelberg, Germany) Dec 2022Tuberous sclerosis complex (TSC) is a phakomatosis and is a tumor predisposition syndrome. As a genetic multisystem disease, patients present with a broad range of... (Review)
Review
CLINICAL BACKGROUND
Tuberous sclerosis complex (TSC) is a phakomatosis and is a tumor predisposition syndrome. As a genetic multisystem disease, patients present with a broad range of changes in the brain, heart, skin, kidneys, and lungs.
OBJECTIVES
Which imaging modalities are required to monitor TSC patients according to current international recommendations?
MATERIALS AND METHODS
Common findings in TSC are cortical tubers, subependymal nodules, and giant cell astrocytomas in the central nervous system (CNS), rhabdomyomas in the heart, and cysts and angiomyolipomas in the kidneys. Magnetic resonance imaging (MRI) of the brain and kidneys and abdominal ultrasound are the imaging modalities of choice, due to the very good soft tissue contrast and lack of X‑ray radiation.
RESULTS
Using standard and functional MRI sequences in a multimodal approach, the type, malignancy, size, and morphology of changes in TSC can be reliably determined. Abdominal ultrasound using high-resolution transducers can be used to rapidly and reliably detect even the smallest changes in the kidneys.
CONCLUSION
Regular follow-up of patients with TSC using MRI and ultrasound is necessary for early detection of complications, for planning individualized therapy, and for optimal lifelong care.
Topics: Humans; Angiomyolipoma; Magnetic Resonance Imaging; Rhabdomyoma; Tuberous Sclerosis
PubMed: 35945379
DOI: 10.1007/s00117-022-01053-z -
The Journal of Urology Sep 2020
Topics: Angiomyolipoma; Everolimus; Humans; Kinetics
PubMed: 32574521
DOI: 10.1097/JU.0000000000001065.01 -
Autopsy & Case Reports 2021Angiomyolipoma with epithelial cysts (AMLEC) is a recently described entity and is an uncommon subtype of kidney angiomyolipomas. AMLEC is a benign entity but usually... (Review)
Review
Angiomyolipoma with epithelial cysts (AMLEC) is a recently described entity and is an uncommon subtype of kidney angiomyolipomas. AMLEC is a benign entity but usually masquerades a renal cell carcinoma on imaging examination. AMLEC has a distinct histological and immunohistochemical staining pattern, which helps in the pathological diagnosis. We present a rare case of AMLEC in a 26-year-old female, which was provisionally diagnosed as renal cell carcinoma on radiology. We also summarize the differential diagnosis of this rare variant, its characteristic features, and a review of the literature.
PubMed: 34458176
DOI: 10.4322/acr.2021.308 -
La Revue de Medecine Interne Oct 2021Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects different organs and caused by loss-of-function mutations in one of two genes: TSC1 or... (Review)
Review
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects different organs and caused by loss-of-function mutations in one of two genes: TSC1 or TSC2. TSC1 or TSC2 gene mutation lead to dysfunction of hamartin or tuberin, respectively. Hamartin and tuberin form a protein complex that helps regulate cellular proliferation. These proteins form a complex that constitutively inhibits the mammalian target of rapamycin (mTOR) signaling pathway, leading to permanent activation of mTOR signaling within all TSC-associated lesions. Major features of TSC include tumors of the brain, skin, heart, lungs and kidneys, seizures and TSC-associated neuropsychiatric disorders, which can include autism spectrum disorder and cognitive disability. These disorders are usually diagnosed in children and adults. Specific guidelines for diagnosis, surveillance, and management have been proposed by the International Tuberous Sclerosis Complex Consensus Group. Several randomized controlled trials led to regulatory approval of the use of mTOR inhibitors for the treatment of renal angiomyolipomas, brain subependymal giant cell astrocytomas, refractory epilepsy and pulmonary lymphangioleiomyomatosis.
Topics: Autism Spectrum Disorder; Humans; Lymphangioleiomyomatosis; Tuberous Sclerosis; Tuberous Sclerosis Complex 2 Protein; Tumor Suppressor Proteins
PubMed: 33836894
DOI: 10.1016/j.revmed.2021.03.003 -
Pathology Mar 2022Histological examination of liver biopsies and resection specimens remains the gold standard to establish a definitive diagnosis of liver lesions. While hepatocellular... (Review)
Review
Histological examination of liver biopsies and resection specimens remains the gold standard to establish a definitive diagnosis of liver lesions. While hepatocellular carcinoma remains the most commonly encountered liver lesion on mass-directed biopsies, surgical pathologists must be aware of other entities that may pose diagnostic challenges, as an accurate diagnosis is key for patient management. Mesenchymal tumours of the liver are relatively uncommon, therefore many pathologists are unfamiliar with these tumours. While the clinical presentation and radiological features of these lesions often overlap, careful attention to histological clues can assist in weeding out various congeners to arrive at the most accurate diagnosis. An additional challenge when diagnosing mesenchymal tumours is the specimen type, as mass-directed core biopsies are limited and have become standard clinical practice. Besides careful attention to histological features, radiological findings and clinical history, immunohistochemical analysis and molecular studies have become of immense diagnostic value. In this review, we discuss several common and rare mesenchymal hepatic lesions as defined in the current World Health Organization (WHO) classification and most up-to-date literature. We also discuss immunohistochemistry panels and relevant molecular findings that may assist in rendering an accurate diagnosis when encountering these lesions in daily practice.
Topics: Angiomyolipoma; Biomarkers, Tumor; Biopsy; Diagnosis, Differential; Hamartoma; Humans; Immunohistochemistry; Liver; Liver Neoplasms; Neoplasms, Glandular and Epithelial; Neoplasms, Muscle Tissue; Neoplasms, Vascular Tissue; Sarcoma
PubMed: 34965900
DOI: 10.1016/j.pathol.2021.09.022