Long and short cases
Vivian A. Elwell, Ramez Kirollos, Syed Al-Haddad in Neurosurgery, 2014
Associated conditions include the following: Tubers.Subependymal giant cell astrocytoma (SEGA).Multiple calcified subependymal nodules.Multiple retinal astrocytomas.Retinal hamartomas or achromic patch.Shagreen patch.Pulmonary lymphangiomyomatosis.Renal angiomyolipoma.Renal cysts.Cardiac rhabdomyomas.
Interstitial lung diseases
Louis-Philippe Boulet in Applied Respiratory Pathophysiology, 2017
The accumulation of atypical smooth muscle cells at the level of the distal airways creates a check valve phenomenon that leads to a distension of the distal airways, the formation of pulmonary cysts, and in two-thirds of cases, the occurrence of pneumothorax [135,136]. Otherwise, the progressive closure of lymphatic vessels by smooth muscle cells leads to the formation of cystic lymphatic masses (lymphangioleiomyoma), chylothorax (chylous pleural effusions), and chylous ascites [130]. Finally, renal angiomyolipoma (benign tumor containing soft tissue, blood vessels, and fatty tissue) can be found in about 50% of cases [135]. No cure currently exists. It is generally recommended to avoid oral contraceptives and hormonal replacement treatments at menopause, as they are associated with a worsening of the disease. In some patients with a rapid decline in lung function, a treatment with sirolimus (inhibitor of the mTOR) can be considered [136]. In this regard, McCormack et al. observed the stabilization of lung function and an improvement in symptoms and quality of life in patients with LAM treated with sirolimus [137].
Paper 4
Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw in The Final FRCR, 2020
The multiple fat-containing renal lesions along with lung cysts are consistent with a diagnosis of tuberous sclerosis; therefore these lesions are likely angiomyolipomas. The main risk for angiomyolipoma is retroperitoneal haemorrhage and lesions that are >40 mm should be considered for embolisation or surgical removal. Lesions that are <20 mm generally do not require follow-up due to slow growth, and angiomyolipoma between these measurements can be followed up with interval imaging. A patient may require MRI kidneys if there is any doubt about the lesions, for example if they are fat poor. Fat-saturated and in- and out-of-phase MRI sequences can be helpful.
Pulmonary lymphangioleiomyomatosis associated with aggressive renal angiomyolipoma
Published in Baylor University Medical Center Proceedings, 2018
Allison Cooper, Laura Baugh, Shannon Kelley, Howard Huang, Joseph Guileyardo
The autopsy was limited to the chest and abdomen. The bilateral lung parenchyma was diffusely cystic with numerous hemorrhagic nodules (Figure 2). Multiple hepatic and renal cortical tumor nodules were also found, and the right kidney tumor extended through the renal capsule. Approximately 3200 mL of chylous fluid was present within the peritoneal cavity. Microscopic examination of the lung found cystic spaces with surrounding groups of spindled and epithelioid cells (Figure 3a) that had strong positive immunohistochemical staining for actin and desmin, as well as scattered cells staining positive for ER, PGR, and HMB45. The hepatic and renal nodules were composed of adipose tissue, blood vessels, and HMB45+ spindled and epithelioid cells, all consistent with angiomyolipomas. Sections of the right kidney angiomyolipoma showed increased cellularity with infiltration into the perinephric adipose tissue, lymphatic spaces, and adjacent adrenal gland (Figure 3b). Additional sections of lung hilar and paratracheal lymph nodes demonstrated metastatic involvement by HMB45+ spindled and epithelioid cells. A cardiac blood sample was submitted for genetic testing and was found to be negative for TSC1 and TSC2 gene mutations.
Nasal angiomyolipoma causing persistent nasal congestion
Published in Baylor University Medical Center Proceedings, 2020
Rishi Suresh, Lina Liu, David Clark
The patient underwent definitive resection with an excisional biopsy. Intraoperatively, a soft tissue mass was noted arising from the lateral wall of the left nasal vestibule slightly posterior to the mucosquamous junction, extending to but not including the head of the inferior turbinate. The lesion appeared to arise solely from the mucosa without direct involvement of the skin of the nasal vestibule. The remainder of the nasal cavity was unremarkable. Pathologic findings were consistent with a 1.2 × 1.1 × 0.8 cm pink-tan, solid polypoid mass that was attached to a 1.2 × 1.0 × 0.2 cm ellipse of tan-pink mucosa on gross examination. Microscopically, the polypoid mass was attached to the squamous mucosa but showed no surface epithelial lining. It contained adipose tissue (approximately 30%) with no atypia, mature-appearing spindled smooth muscle cells, and thick-walled blood vessels. Immunohistochemically, smooth muscle cells were diffusely positive for smooth muscle actin and negative for HMB-45. These features are diagnostic of angiomyolipoma (Figure 2). The patient tolerated the procedure well. He did not report any bleeding or significant pain and described a dramatic improvement in his breathing.
Percutaneous ablation techniques for renal cell carcinoma: current status and future trends
Published in International Journal of Hyperthermia, 2019
D. Filippiadis, G. Mauri, P. Marra, G. Charalampopoulos, N. Gennaro, F. De Cobelli
According to the GLOBOCAN 2018 statistics, kidney cancer’s incidence is 8th among cancers in Europe with more than 130,000 new cases and more than 54,000 deaths per year. Early detection and detection due to incidental imaging findings has led to an increased interest in alternatives to surgical resection to treat small sized tumors such as percutaneous ablation. Small renal masses (SRMs) encompass a wide range of benign and malignant tumors and are defined by having a size less than or equal to 4 cm [3]. Although in most of the cases, the masses are confirmed as being renal cell carcinomas (RCCs), up to 25% are benign renal cortical tumors (i.e., oncocytoma, atypical angiomyolipoma) and another 25% are diagnosed as masses with limited metastatic potential [3]. Historically, surgical resection is the standard of care for the treatment of localized renal tumors and partial nephrectomy has been labeled superior to radical nephrectomy for T1 tumors, in terms of long-term renal function and overall survival, while maintaining equivalent oncologic outcomes [3].
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