Renal Angiomyolipoma

Updated: October 24, 2024

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Background

Renal angiomyolipoma (AML) is the benign neoplasm of the kidney, the name of this neoplasm being derived from the constituents of the tumor certain blood vessels (angi), smooth muscles (myo) and fat (lipoma). It is the most common type of renal adenoma, and it accounts for approximately 3% of all renal mass. Although most are unapparent, larger angiomyolipomas can lead to problems such as hemorrhage because blood vessels here are weak or even renal failure if the tumor is large. Angiomyolipoma is a single lesion or in relation to TSC, that is a genetic disorder causing benign tumor growths in many organs of the body. Renal AMLs are mostly multiple and larger when they are in association with TSC. 

Epidemiology

Renal angiomyolipomas are rare kidney tumours and are relatively infrequent, contributing only between 0.3-3% of all renal malignancies. Approximately 0.13%-2.2% of the population is affected, of which 80% occur in isolation. The other 20% of patients are linked to either pulmonary lymphangioleiomyomatosis or tuberous sclerosis complex.

Anatomy

Pathophysiology

Renal AML is a benign tumour comprised of blood vessels (angio), smooth muscles (myo), and fat (lipoma). Their pathophysiology involves the marked enlargement of these components in kidney. Its pathophysiology is defined by the hypertrophy of these components within the kidney. AMLs are particularly linked to tuberous sclerosis complex (TSC), an inherited disease due to TSC1 or TSC2 genes mutation that result in irregular mTOR signal transduction that either promotes or inhibits cell division. In other instances, they are not directly related to TSC but in matters concerning its causative agent the exact root is unknown however similar disruption of mTOR is possibly the reason. Another consequence of AMLs is the high risk of aneurysm within the tumor because of the pathologic vessels, and enlargement of the tumor harbours a risk of bleed. Fat content in AMLs can often be detected on imaging, aiding diagnosis. 

Etiology

Tuberous Sclerosis Complex (TSC)  

It is reported that majority of the TSC patients, which is roughly 80%, experience angiomyolipomas. It is a genetic disease resulting from a complete deficiency in the genes TSC1 and TSC2 that relate with cell growth and tumors. As with TSC-associated cases, angiomyolipomas are predominantly multiple and bilateral.  

Sporadic AML  

Bilateral and multiple angiomyolipomas are associated with TSC while many angiomyolipomas are sporadic, solitary and predominantly unilateral. These cases are frequent in middle-aged female and are associated with hormonal factors since the tumors may develop during pregnancy or following hormonal changes.  

Hormonal Influence  

While the presence of estrogen or progesterone is reported to promote angiomyolipoma formation, explaining why they are more predominant in women and may increase in size during pregnancy.  

Genetic Factors 

More commonly than TSC1 mutations, mutations of the TSC2 gene are associated with renal angiomyolipomas in both TSC-related cases and in non-TSC cases. 

Lymphangioleiomyomatosis (LAM) 

Renal angiomyolipomas sometimes can be associated with LAM, a lung disease disorder of females, particularly in TSC. 

Genetics

Prognostic Factors

Tumor Size: Tumours that have diameter of more than 4cm are more likely to have clinical symptoms, to rupture, or to bleed.  

Presence of Symptoms: The risk of complications is high for symptomatic tumors (pain, hematuria).  

Growth Rate: As the tumor grows at a faster rate, there are high chances that it will rupture. 

Associated Conditions: The complexity and elevated aggressiveness of AMLs found in TSC patients means that these tumours are multiple.  

Vascular Composition: As the degree of blood vessel abberations, particularly aneurysms, increase, then the chance of bleeding also increases. 

Gender and Age: Women and younger individuals, particularly in TSC-associated cases, may have more aggressive disease. 

Clinical History

Age Group:  

Middle-aged adults (30-50 years): The variations of AML are to be often isolated, and the most conventional subtype is refractory to this age group with higher prevalence in females.  

Younger individuals with tuberous sclerosis complex (TSC): AMLs in TSC patients, attributed to a genetic disorder, may develop at a younger age, at childhood or early adulthood. In these cases, both bilateral lesions are more often detected than unilateral ones.  

Females: AMLs are more common in women than in men, with a female-to-male ratio of about 4:1. Hormonal factors, such as estrogen, may influence the development of these tumors. 

Physical Examination

Abdominal examination 

Kidney assessment 

Skin examination 

Age group

Associated comorbidity

Tuberous Sclerosis Complex (TSC) 

Hereditary and Sporadic Forms 

Renal Impairment 

Hypertension 

Hemorrhage and Rupture 

Associated activity

Acuity of presentation

Acute presentation: 

Patients may present acutely, especially when the tumor is large or has ruptured and led to spontaneous bleeding. This condition is referred to as Wunderlich syndrome or spontaneous renal hemorrhage; the symptoms include: 

Severe flank pain (acute onset) 

Hematuria (blood in urine) 

Hypotension (if there is significant bleeding) 

Abdominal mass 

Shock (in cases of massive hemorrhage) 

Chronic or Incidental Presentations: 

Most renal AMLs are asymptomatic and are detected incidentally as imaging tests are conducted for unrelated reasons, especially when small (<4 cm). The symptoms may appear over time to include 

Pain in flank that is dull or intermitting 

Hematuria (without acute distress). 

Differential Diagnoses

Renal Cell Carcinoma (RCC) 

Renal Lipoma 

Oncocytoma 

Metastatic Disease 

Cysts 

Hemangioma 

Renal Adenoma

Laboratory Studies

Imaging Studies

Procedures

Histologic Findings

Staging

Treatment Paradigm

Observation 

Indications: ‘Micro-AMLs’ which are small, asymptomatic lesions generally below 4 centimeters in size.  

Management: Imaging studies: Periodic ultrasounds or CT scans to document tumour size and its symptoms.  

Medical Management  

Indications: Positron emission tomography in patients with TSC or with symptomatic AMLs.  

Treatment:  

Everolimus: A drug that belongs to the mTOR inhibitor type and can potentially shrink AMLs in patients living with TSC.  

Interferon-alpha: Occasionally being used as means of managing this condition. 

Surgical Management 

Indications: Tumors that are larger than 4 cm in diameter, have symptoms or that have caused complications such as bleeding.  

Techniques:  

Partial Nephrectomy: Resection of the tumour with minimally impacting on renal physiology.  

Embolization: Surgical technique that involves the occlusion of a blood vessel supplying the tumor with the aim of shrinking it and decreasing its propensity to bleed.  

Radical Nephrectomy: Technique of nephrectomy where the whole kidney is removed, commonly in very serious conditions or complex diseases.  

Follow-up: Follow-Up with imaging is recommended, particularly when the initial TSC was large or recurrent, and for those with other TSCs. 

by Stage

by Modality

Chemotherapy

Radiation Therapy

Surgical Interventions

Hormone Therapy

Immunotherapy

Hyperthermia

Photodynamic Therapy

Stem Cell Transplant

Targeted Therapy

Palliative Care

lifestyle-modifications-in-treating-renal-angiomyolipoma

Diet and Nutrients: 
Low-fat Diet: Saturated fats in diets can be reduced to relieve and even prevent the onset of AMLs. 
Antioxidants: Fresh fruits and vegetables are probably protecting the kidneys because of its antioxidative property. 
Hydration: Keeping well hydrated is conducive to the kidneys, therefore decreasing the possibility of poor prognosis with renal neoplasms. 
Exercise: Maintaining a weight within a certain range has benefits; thus, maintaining a regular level of activity helps in overall health. 
Avoiding Toxins: It implicates reducing the consumption of environmental pollutants; these are chemicals, heavy metals, and pesticides may preserve the kidneys. 
Avoid smoking and excessive alcohol: Avoiding consumption of tobacco products and alcohol will be healthy for the kidneys. 

Effectiveness of Immunosuppressants in treating Renal angiomyolipoma:

Sirolimus 

A mTOR inhibitor immunosuppressant is given for prevention of organ transplant rejections, treatment of LAM, and management of adults with partial or complete perivascular epithelioid cell neoplasms. 

role-of-intervention-with-procedure-in-treating-renal-angiomyolipoma

Selective Arterial Embolization (SAE):  

This is a minimally invasive procedure in which a surgeon removes a part of the tumor to ease its symptoms.  

It involves placing a catheter into the renal artery delivering embolic agents to block the blood flow to the tumor, which in turn causes the tumor to regress.  

Laparoscopic or Robotic-Assisted Surgery:  

These minimal access surgical approaches can be applied for the purposes of tumour resection, and the advantages may include shortened rehabilitation period and less intensity of pain in the period after the operation.  

Radiofrequency Ablation (RFA) or Cryoablation:  

These methods use heat (Radiofrequency ablation) or cold (Cryoablation) on tumor tissue and may be used where ordinary surgery is impossible. 

role-of-management-in-treating-renal-angiomyolipoma

Diagnosis:  

Imaging: Typically requires the use of ultrasound, CT, or MRI to diagnose the presence of an AML and to look at its dimensions and morphology.  

Biopsy: Rarely performed since the diagnosis can usually be made based on imaging. 

Observation:  

Small, Asymptomatic AML:  

Usually, if the tumor is small (usually, not more than 4 cm) and does not cause symptoms, the patient needs to undergo repeated imaging scans (ultrasound, CT) and in case of growth or complications, further treatment is applied.  

Symptomatic Management:  

Pain Control: In case a patient has pain or any other discomforts they may require some form of pain relief.  

Interventional Procedures:  

Embolization: Larger tumors (normally >4cm), or if the patient presents with bleeding or pain, renal artery embolization may be done with the aim of making the tumor smaller and controlling the bleeding. 

Surgical Resection: In patients with large, symptomatic, or complicated AML (e.g., hemorrhage), nephron-sparing surgical excision or partial nephrectomy might be appropriate.  

Follow-up:  

Regular Monitoring: Subsequent imaging is done to evaluate for either recurrence of the lesion or new lesions particularly in those with tuberous sclerosis or those with multiple AMLs. 

Medication

 

everolimus

10

mg

Orally

once a day

the total duration of therapy is continued until disease progression, or no toxicity occurs
Note:
Tablets need to be swallowed with a glass of water but do not chew, crush, or break the tablet
Do not combine the brands of Afinitor tablets and Afinitor Disperz to reach the desired dose
Only use any one of them



 
 

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Renal Angiomyolipoma

Updated : October 24, 2024

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Renal angiomyolipoma (AML) is the benign neoplasm of the kidney, the name of this neoplasm being derived from the constituents of the tumor certain blood vessels (angi), smooth muscles (myo) and fat (lipoma). It is the most common type of renal adenoma, and it accounts for approximately 3% of all renal mass. Although most are unapparent, larger angiomyolipomas can lead to problems such as hemorrhage because blood vessels here are weak or even renal failure if the tumor is large. Angiomyolipoma is a single lesion or in relation to TSC, that is a genetic disorder causing benign tumor growths in many organs of the body. Renal AMLs are mostly multiple and larger when they are in association with TSC. 

Renal angiomyolipomas are rare kidney tumours and are relatively infrequent, contributing only between 0.3-3% of all renal malignancies. Approximately 0.13%-2.2% of the population is affected, of which 80% occur in isolation. The other 20% of patients are linked to either pulmonary lymphangioleiomyomatosis or tuberous sclerosis complex.

Renal AML is a benign tumour comprised of blood vessels (angio), smooth muscles (myo), and fat (lipoma). Their pathophysiology involves the marked enlargement of these components in kidney. Its pathophysiology is defined by the hypertrophy of these components within the kidney. AMLs are particularly linked to tuberous sclerosis complex (TSC), an inherited disease due to TSC1 or TSC2 genes mutation that result in irregular mTOR signal transduction that either promotes or inhibits cell division. In other instances, they are not directly related to TSC but in matters concerning its causative agent the exact root is unknown however similar disruption of mTOR is possibly the reason. Another consequence of AMLs is the high risk of aneurysm within the tumor because of the pathologic vessels, and enlargement of the tumor harbours a risk of bleed. Fat content in AMLs can often be detected on imaging, aiding diagnosis. 

Tuberous Sclerosis Complex (TSC)  

It is reported that majority of the TSC patients, which is roughly 80%, experience angiomyolipomas. It is a genetic disease resulting from a complete deficiency in the genes TSC1 and TSC2 that relate with cell growth and tumors. As with TSC-associated cases, angiomyolipomas are predominantly multiple and bilateral.  

Sporadic AML  

Bilateral and multiple angiomyolipomas are associated with TSC while many angiomyolipomas are sporadic, solitary and predominantly unilateral. These cases are frequent in middle-aged female and are associated with hormonal factors since the tumors may develop during pregnancy or following hormonal changes.  

Hormonal Influence  

While the presence of estrogen or progesterone is reported to promote angiomyolipoma formation, explaining why they are more predominant in women and may increase in size during pregnancy.  

Genetic Factors 

More commonly than TSC1 mutations, mutations of the TSC2 gene are associated with renal angiomyolipomas in both TSC-related cases and in non-TSC cases. 

Lymphangioleiomyomatosis (LAM) 

Renal angiomyolipomas sometimes can be associated with LAM, a lung disease disorder of females, particularly in TSC. 

Tumor Size: Tumours that have diameter of more than 4cm are more likely to have clinical symptoms, to rupture, or to bleed.  

Presence of Symptoms: The risk of complications is high for symptomatic tumors (pain, hematuria).  

Growth Rate: As the tumor grows at a faster rate, there are high chances that it will rupture. 

Associated Conditions: The complexity and elevated aggressiveness of AMLs found in TSC patients means that these tumours are multiple.  

Vascular Composition: As the degree of blood vessel abberations, particularly aneurysms, increase, then the chance of bleeding also increases. 

Gender and Age: Women and younger individuals, particularly in TSC-associated cases, may have more aggressive disease. 

Age Group:  

Middle-aged adults (30-50 years): The variations of AML are to be often isolated, and the most conventional subtype is refractory to this age group with higher prevalence in females.  

Younger individuals with tuberous sclerosis complex (TSC): AMLs in TSC patients, attributed to a genetic disorder, may develop at a younger age, at childhood or early adulthood. In these cases, both bilateral lesions are more often detected than unilateral ones.  

Females: AMLs are more common in women than in men, with a female-to-male ratio of about 4:1. Hormonal factors, such as estrogen, may influence the development of these tumors. 

Abdominal examination 

Kidney assessment 

Skin examination 

Tuberous Sclerosis Complex (TSC) 

Hereditary and Sporadic Forms 

Renal Impairment 

Hypertension 

Hemorrhage and Rupture 

Acute presentation: 

Patients may present acutely, especially when the tumor is large or has ruptured and led to spontaneous bleeding. This condition is referred to as Wunderlich syndrome or spontaneous renal hemorrhage; the symptoms include: 

Severe flank pain (acute onset) 

Hematuria (blood in urine) 

Hypotension (if there is significant bleeding) 

Abdominal mass 

Shock (in cases of massive hemorrhage) 

Chronic or Incidental Presentations: 

Most renal AMLs are asymptomatic and are detected incidentally as imaging tests are conducted for unrelated reasons, especially when small (<4 cm). The symptoms may appear over time to include 

Pain in flank that is dull or intermitting 

Hematuria (without acute distress). 

Renal Cell Carcinoma (RCC) 

Renal Lipoma 

Oncocytoma 

Metastatic Disease 

Cysts 

Hemangioma 

Renal Adenoma

Observation 

Indications: ‘Micro-AMLs’ which are small, asymptomatic lesions generally below 4 centimeters in size.  

Management: Imaging studies: Periodic ultrasounds or CT scans to document tumour size and its symptoms.  

Medical Management  

Indications: Positron emission tomography in patients with TSC or with symptomatic AMLs.  

Treatment:  

Everolimus: A drug that belongs to the mTOR inhibitor type and can potentially shrink AMLs in patients living with TSC.  

Interferon-alpha: Occasionally being used as means of managing this condition. 

Surgical Management 

Indications: Tumors that are larger than 4 cm in diameter, have symptoms or that have caused complications such as bleeding.  

Techniques:  

Partial Nephrectomy: Resection of the tumour with minimally impacting on renal physiology.  

Embolization: Surgical technique that involves the occlusion of a blood vessel supplying the tumor with the aim of shrinking it and decreasing its propensity to bleed.  

Radical Nephrectomy: Technique of nephrectomy where the whole kidney is removed, commonly in very serious conditions or complex diseases.  

Follow-up: Follow-Up with imaging is recommended, particularly when the initial TSC was large or recurrent, and for those with other TSCs. 

Nephrology

Diet and Nutrients: 
Low-fat Diet: Saturated fats in diets can be reduced to relieve and even prevent the onset of AMLs. 
Antioxidants: Fresh fruits and vegetables are probably protecting the kidneys because of its antioxidative property. 
Hydration: Keeping well hydrated is conducive to the kidneys, therefore decreasing the possibility of poor prognosis with renal neoplasms. 
Exercise: Maintaining a weight within a certain range has benefits; thus, maintaining a regular level of activity helps in overall health. 
Avoiding Toxins: It implicates reducing the consumption of environmental pollutants; these are chemicals, heavy metals, and pesticides may preserve the kidneys. 
Avoid smoking and excessive alcohol: Avoiding consumption of tobacco products and alcohol will be healthy for the kidneys. 

Nephrology

Sirolimus 

A mTOR inhibitor immunosuppressant is given for prevention of organ transplant rejections, treatment of LAM, and management of adults with partial or complete perivascular epithelioid cell neoplasms. 

Nephrology

Selective Arterial Embolization (SAE):  

This is a minimally invasive procedure in which a surgeon removes a part of the tumor to ease its symptoms.  

It involves placing a catheter into the renal artery delivering embolic agents to block the blood flow to the tumor, which in turn causes the tumor to regress.  

Laparoscopic or Robotic-Assisted Surgery:  

These minimal access surgical approaches can be applied for the purposes of tumour resection, and the advantages may include shortened rehabilitation period and less intensity of pain in the period after the operation.  

Radiofrequency Ablation (RFA) or Cryoablation:  

These methods use heat (Radiofrequency ablation) or cold (Cryoablation) on tumor tissue and may be used where ordinary surgery is impossible. 

Nephrology

Diagnosis:  

Imaging: Typically requires the use of ultrasound, CT, or MRI to diagnose the presence of an AML and to look at its dimensions and morphology.  

Biopsy: Rarely performed since the diagnosis can usually be made based on imaging. 

Observation:  

Small, Asymptomatic AML:  

Usually, if the tumor is small (usually, not more than 4 cm) and does not cause symptoms, the patient needs to undergo repeated imaging scans (ultrasound, CT) and in case of growth or complications, further treatment is applied.  

Symptomatic Management:  

Pain Control: In case a patient has pain or any other discomforts they may require some form of pain relief.  

Interventional Procedures:  

Embolization: Larger tumors (normally >4cm), or if the patient presents with bleeding or pain, renal artery embolization may be done with the aim of making the tumor smaller and controlling the bleeding. 

Surgical Resection: In patients with large, symptomatic, or complicated AML (e.g., hemorrhage), nephron-sparing surgical excision or partial nephrectomy might be appropriate.  

Follow-up:  

Regular Monitoring: Subsequent imaging is done to evaluate for either recurrence of the lesion or new lesions particularly in those with tuberous sclerosis or those with multiple AMLs. 

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