Presentation
Known Tuberous Sclerosis Complex (TSC) with history of bilateral ruptured renal angiomyolipomata (AMLs). Noted progressive anemia and increasing size of left flank mass.
Patient Data
Abdominal x-ray shows relative paucity of bowel gas in the central abdomen which are due to displacement by homogenous radiolucent masses filling up bilateral hemiabdomen. Small coils are seen over left upper abdomen in keeping with previous coil embolization.
Chest x-ray shows diffuse reticular markings with small cysts throughout both lungs with no zonal predominance. Lung volumes are mildly hyperinflated. No pleural effusion or pneumothorax evident.
Bilateral enlarged kidneys (right kidney = 23.0cm, left kidney = 26.4cm) occupying most of abdominal cavity with compression of the intraperitoneal and mesenteric structures. Bowel loops are inferiorly displaced. Both kidneys grossly replaced by mixed fat with heterogenous enhancement of the vascular and solid components, in keeping with bilateral renal angiomyolipomas. Prior coil embolization to left upper renal pole evident.
A 8.3x8.6x9.9cm (APxTDxCC) solid mass is seen arising from upper-to-mid pole of left kidney. It exhibits heterogenous enhancement with areas of necrosis. No macroscopic fat or calcifications seen. There is apparent extra-capsular extension into posterior left flank with loss of intervening tissue plane with the left quadratus lumborum. Invasion into left renal vein is also seen. Inferior vena cava is patent.
No subcapsular or retroperitoneal hematoma. No active contrast extravasation or pooling evident.
Mild splenomegaly (13.2cm span). Two heterogenously enhancing isodense lesions measuring 5.2x6.7x5.5cm (APxTDxCC) and 3.3x3.4x2.6cm (APxTDxCC) are seen at mid and upper splenic poles respectively. Features could suggest splenic harmatomas.
Numerous fat density lesions scattered in both hepatic lobes are in keeping with hepatic angiomyolipomas.
Gallbladder and pancreas are unremarkable. Adrenals not well visualized. Small retroverted uterus.
Included lung bases shows innumerable thin-walled cystic lesions replacing most of lung parenchyma, in keeping with pulmonary lymphangioleiomyomatosis. Left pleural thickening with hyperdensities in keeping with prior pleurodesis.
Multiple sclerotic bony lesions are seen throughout the axial spine and pelvic bone. A 1.5cm lytic lesion with sclerotic rim at anterior L3 vertebral body could represent a small bone cyst.
Patient subsequently underwent radical left nephrectomy in view of suspected left malignant renal tumor.
Final histopathology report shows angiomyolipoma with presence of epithelioid component. Additional findings of extensive tumor necrosis with carcinoma-like morphological pattern, involvement of renal vein at hilum and extrarenal extension suggests high risk category of disease progression.
Progressive shortness of breath on FU
Subsequent abdominal x-ray shows surgical clips over left abdomen in keeping with interval left radical nephrectomy.
However, follow-up chest x-ray found multiple well-circumscribed round pulmonary opacities concerning for cannonball metastases.
Evidence of left nephrectomy. Enlarged right kidney replaced by mixed fat, blood vessels and enhancing solid densities in keeping with right angiomyolipoma. A few intratumoral aneurysms are seen. No evidence of intra- or retroperitoneal hematoma to suggest rupture.
Multiple heterogenous poorly enhancing lesions are newly seen in the liver. Largest up to 8.0x6.9cm at right lobe. Central cystic necrosis are seen. No macroscopic fat or calcifications. These are suspicious for liver metastases. Portal veins are patent.
Smaller fat-containing lesions up to 3cm similarly seen in both hepatic lobes in keeping with liver angiomyolipomas.
A 5.3cm heterogenous poorly enhancing lesion newly seen in spleen, also suspicious for splenic metastasis.
Biliary ductal system not dilated. Gallbladder and pancreas unremarkable. Adrenals not well visualized.
Moderate amount hypodense ascites seen over right paracolic gutter and pelvis. No enlarged intra-abdominal lymph nodes.
Multiple soft tissue masses and nodules seen in the included lung bases are newly seen, concerning for lung metastases. Background of pulmonary lymphangioleiomyomatosis (LAM) evident.
Liver biopsy of the liver lesions (taken at segment 8) shows histopathological findings of malignant perivascular epithelioid cell neoplasm.
Case Discussion
This case illustrates a patient with Tuberous Sclerosis Complex (TSC) with classical manifestations of bilateral large renal angiomyolipomata (AML), multiple liver angiomyolipomata, splenic harmatoma, pulmonary lymphangioleiomyomatosis (LAM), multiple sclerotic bone lesions and bone cysts.
She was complicated with interval development of a histologically-proven left sided epithelioid angiomyolipoma (EAML) which was noted to have an aggressive clinical course despite radical nephrectomy. She subsequently developed distant metastases to the lung, liver and spleen within half a year.
The radiological appearances of EAML can be non-specific with similar morphology to renal cell carcinoma (RCC). One pointer to note is that there were no calcifications seen in this case which is atypical for RCC. Histopathological correlation would be required for confirmation.
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