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Orphanet Journal of Rare Diseases Mar 2024Lymphangioleiomyomatosis (LAM) is common in tuberous sclerosis complex (TSC) yet under recognised with management mostly based upon evidence obtained from patients with...
BACKGROUND
Lymphangioleiomyomatosis (LAM) is common in tuberous sclerosis complex (TSC) yet under recognised with management mostly based upon evidence obtained from patients with sporadic LAM. We performed a prospective audit of patients with TSC-LAM attending a national referral centre to inform management guidelines.
METHODS
The UK LAM Centre was established in 2011 and conducts a prospective audit of pre-defined quality outcomes for all subjects. Audit data are reported on all patients with TSC-LAM and a comparator population of patients with sporadic LAM.
RESULTS
Between 2011 and 2022, 73 patients were seen with TSC-LAM. All were women with a mean (SD) age of 39 (12) years. Referral rates were similar over the study period including after the introduction of CT screening. Median age of diagnosis with TSC was 11 years (range 0-70) with one third diagnosed with TSC as adults. Compared with all TSC patients in the 'TOSCA' registry, TSC-LAM patients tended to have been diagnosed with TSC at an older age, had fewer neuro-cognitive manifestations and were more likely to have angiomyolipoma. The most common presentations of TSC-LAM were following workup for angiomyolipoma, pneumothorax or dyspnoea with only one fifth detected after CT screening. Baseline FEV and DL at first assessment were reduced to 77 and 63% predicted respectively and were similar to patients with sporadic LAM. During follow-up, FEV fell by a mean of 81 ml/year and DL fell by 0.309 mmol/ml/kPa/year in patients not being treated with an mTOR inhibitor. 55% required treatment with either sirolimus or Everolimus for LAM or angiomyolipoma respectively. For those treated with an mTOR inhibitor, mean FEV fell by 3 ml/year and DL increased by 0.032 mmol/ml/kPa/year and was similar to sporadic LAM. Risk of death due to LAM or need for lung transplant in patients with TSC-LAM was 0.67%/year.
CONCLUSIONS
Despite screening recommendations, LAM is often diagnosed in TSC after symptoms develop which may delay treatment. Complications including pneumothorax and loss of lung function are significant and similar to sporadic LAM. Work is needed to implement the recommended CT screening for LAM and improve respiratory care for TSC-LAM.
Topics: Adult; Humans; Female; Infant, Newborn; Infant; Child, Preschool; Child; Adolescent; Young Adult; Middle Aged; Aged; Male; Lymphangioleiomyomatosis; Tuberous Sclerosis; Angiomyolipoma; Pneumothorax; Kidney Neoplasms; TOR Serine-Threonine Kinases
PubMed: 38532450
DOI: 10.1186/s13023-024-03115-y -
Interventional Radiology... Mar 2024We report a case of a life-threatening ruptured renal angiomyolipoma (AML) that did not meet the criteria for prophylactic treatment (tumor >4 cm or intratumoral...
We report a case of a life-threatening ruptured renal angiomyolipoma (AML) that did not meet the criteria for prophylactic treatment (tumor >4 cm or intratumoral aneurysm >5 mm) during follow-up. A woman in her 70s was followed up for a 2.5-cm AML with a rich vascular component. An intratumoral aneurysm >5 mm was not identified for 2 years. She complained of a sudden abdominal pain with hypotension, and contrast-enhanced computed tomography revealed a retroperitoneal hematoma with contrast media extravasation from an intratumoral aneurysm. Emergency transcatheter arterial embolization was successfully performed using N-butyl cyanoacrylate glue. Rupture can occur in small AMLs or in AMLs not identified with intratumoral aneurysms during follow-up. AMLs with a rich vascular component at the kidney surface are more likely to rupture.
PubMed: 38525001
DOI: 10.22575/interventionalradiology.2023-0013 -
Journal of Surgical Case Reports Mar 2024Renal angiomyolipoma (AML) is a benign tumor with rare venous extension. We present a case of a patient with renal AML with inferior vena cava (IVC) tumor thrombus and...
Renal angiomyolipoma (AML) is a benign tumor with rare venous extension. We present a case of a patient with renal AML with inferior vena cava (IVC) tumor thrombus and acute pulmonary embolism (PE). A 34-year-old female presented with chest pain. Imaging revealed a 5 cm right renal AML, with tumor thrombus into the renal vein and IVC, and acute left lower lobe PE. Right radical nephrectomy and caval thrombectomy were performed using intraoperative ultrasound. Rarely, these benign tumors generate thrombus with caval extension. The location of IVC thrombus guides surgical planning, which may involve suprahepatic IVC control or cardiopulmonary bypass. Early involvement of a multidisciplinary team with extensive preoperative planning can help achieve successful outcomes.
PubMed: 38524682
DOI: 10.1093/jscr/rjae174 -
Journal of Surgical Case Reports Mar 2024We identified a young female patient admitted for suspected renal malignancy. Partial nephrectomy was performed after imaging evaluation and discussion. Postoperative...
We identified a young female patient admitted for suspected renal malignancy. Partial nephrectomy was performed after imaging evaluation and discussion. Postoperative biopsy pathology reported multiple low-grade eosinophilic renal tumors (LOTs) with angiomyolipoma growth. After reviewing the data, we found that LOT was mostly solitary and occurred in middle-aged and elderly patients. This case is unique and we share it to improve the understanding of this disease.
PubMed: 38524677
DOI: 10.1093/jscr/rjae125 -
BMC Nephrology Mar 2024Women are counseled preconceptionally about the potential risks of rAML progression and chance of complications during and due to pregnancy. However, a systematic search...
BACKGROUND
Women are counseled preconceptionally about the potential risks of rAML progression and chance of complications during and due to pregnancy. However, a systematic search investigating the evidence on which this advice is based does not exist. The aim of this systematic review is to determine the effect of pregnancy on renal angiomyolipoma (rAML) size and risk of haemorrhage in patients with tuberous sclerosis complex (TSC).
METHODS
We searched PubMed, EMBASE, Medline and ClinicalTrials.gov using terms for "renal angiomyolipoma" and "pregnancy". English-language articles published between January 1st 2000, and December 31st 2020 of which full-text was available were included. The initial search resulted in 176 articles. After the screening process we included 45 case reports and 1 retrospective study. For the retrospective study we assessed the risk of bias using the Newcastle-Ottawa Scale. We included articles about renal AML and pregnancy with and without an established diagnosis of TSC. From these articles we recorded the rAML sizes and rAML complications.
RESULTS
Seven case reports, from a total of 45 case reports, provided follow-up data on renal AML size (these were all cases of renal AML without a known diagnosis of TSC). Of these cases, renal AML size decreased in one patient, was stable in one patient, increased in three patients and fluctuated in two others. Renal AML size of women who suffered a haemorrhage were significantly larger (12.1 ± 4.6 cm) than rAMLs of women who did not suffer a haemorrhage (8.3 ± 3.2 cm). Data from the retrospective study showed no difference in renal complications between the women with and without a history of pregnancy. Haemorrhage occurred in 30% of the women with a history of pregnancy (n = 20) and in 11% in the patients without a history of pregnancy (n = 2), however this retrospective study had methodological limitations.
CONCLUSION
The effect of pregnancy on renal AML size and complications in patients with TSC is unclear. More research is needed to determine the risk of pregnancy on TSC-associated kidney disease in TSC patient.
Topics: Humans; Female; Pregnancy; Angiomyolipoma; Kidney Neoplasms; Tuberous Sclerosis; Retrospective Studies; Hemorrhage; Leukemia, Myeloid, Acute
PubMed: 38519911
DOI: 10.1186/s12882-024-03483-4 -
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 -
Frontiers in Oncology 2024The aim of this study was to explore a radiomics-clinical model for predicting the response to initial superselective arterial embolization (SAE) in renal angiomyolipoma...
PURPOSE
The aim of this study was to explore a radiomics-clinical model for predicting the response to initial superselective arterial embolization (SAE) in renal angiomyolipoma (RAML).
MATERIALS AND METHODS
A total of 78 patients with RAML were retrospectively enrolled. Clinical data were recorded and evaluated. Radiomic features were extracted from preoperative contrast-enhanced CT (CECT). Least absolute shrinkage and selection operator (LASSO) and intra- and inter-class correlation coefficients (ICCs) were used in feature selection. Logistic regression analysis was performed to develop the radiomics, clinical, and combined models where the fivefold cross-validation method was used. The predictive performance and calibration were evaluated by the receiver operating characteristic (ROC) curve and calibration curve. Decision curve analysis (DCA) was used to measure clinical usefulness.
RESULTS
The tumor shrinkage rate was 29.7% in total, and both fat and angiomyogenic components were significantly reduced. In the radiomics model, 12 significant features were selected. In the clinical model, maximum diameter ( = 0.001), angiomyogenic tissue ratio ( = 0.032), aneurysms ( = 0.048), and post-SAE time ( = 0.002) were significantly associated with greater volume reduction after SAE. Because of the severe linear dependence between radiomics signature and some clinical parameters, the combined model eventually included Rad-score, aneurysm, and post-SAE time. The radiomics-clinical model showed better discrimination (mean AUC = 0.83) than the radiomics model (mean AUC = 0.60) and the clinical model (mean AUC = 0.82). Calibration curve and DCA showed the goodness of fit and clinical usefulness of the radiomics-clinical model.
CONCLUSIONS
The radiomics-clinical model incorporating radiomics features and clinical parameters can potentially predict the positive response to initial SAE in RAML and provide support for clinical treatment decisions.
PubMed: 38505597
DOI: 10.3389/fonc.2024.1334706 -
European Journal of Pediatrics Jun 2024The purpose of this study is to determine the predictive factors of tuberous sclerosis complex (TSC)-associated kidney disease and its progression in children....
UNLABELLED
The purpose of this study is to determine the predictive factors of tuberous sclerosis complex (TSC)-associated kidney disease and its progression in children. Retrospective review of children with TSC in a tertiary children's hospital was performed. Relevant data were extracted, and Cox proportional hazards regression was used to establish predictors of kidney lesions. Logistic regression was conducted to identify factors predicting chronic kidney disease (CKD) and high-risk angiomyolipomas (above 3 cm). Kidney imaging data were available in 145 children with TSC; of these, 79% (114/145) had abnormal findings. The only significant predictive factor for cyst development was being female (HR = 0.503, 95% CI 0.264-0.956). Being female (HR = 0.505, 95% CI 0.272-0.937) and underweight (HR = 0.092, 95% CI 0.011-0.800) both lowers the risk of having angiomyolipomas, but TSC2 mutations (HR = 2.568, 95% CI 1.101-5.989) and being obese (HR = 2.555, 95%CI 1.243-5.255) increases risks. Ten (12%) of 81 children with kidney function tested demonstrate CKD stages II-V, and only angiomyolipomas above 3 cm predict CKD. Additionally, 13/145 (9%) children had high-risk angiomyolipomas, whereby current age (adjusted odds ratio (aOR) 1.015, 95% CI 1.004-1.026) and being overweight/obese (aOR 7.129, 95% CI 1.940-26.202) were significantly associated with angiomyolipomas above 3 cm.
CONCLUSIONS
While gender and genotype are known predictors, this study includes the novel finding of nutritional status as a predictor of TSC-associated kidney disease. This study sheds light on a possible complex interplay of hormonal influences, obesity, and kidney angiomyolipomas growth, and further investigations focusing on the impact of nutritional status on TSC-associated kidney disease are warranted.
WHAT IS KNOWN
• Gender and genotype are well-studied predictive factors in TSC kidney disease.
WHAT IS NEW
• Nutritional status may influence the development and the progression of kidney lesions in children with TSC and should not be overlooked. • Management guidelines of TSC-associated kidney disease can address nutritional aspects.
Topics: Humans; Tuberous Sclerosis; Female; Retrospective Studies; Male; Angiomyolipoma; Kidney Neoplasms; Child; Child, Preschool; Nutritional Status; Adolescent; Infant; Risk Factors; Renal Insufficiency, Chronic; Disease Progression; Proportional Hazards Models; Logistic Models
PubMed: 38483608
DOI: 10.1007/s00431-024-05520-8 -
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 -
Clinical Case Reports Mar 2024Although retroperitoneal bleeding and massive hematuria are potential complications of angiomyolipoma (AML), the pulmonary embolism as a presenting symptom is extremely...
Although retroperitoneal bleeding and massive hematuria are potential complications of angiomyolipoma (AML), the pulmonary embolism as a presenting symptom is extremely rare. It is important to be aware that benign AMLs can present with pulmonary fat embolism.
PubMed: 38464581
DOI: 10.1002/ccr3.8616