Angiomyolipomas (AMLs) are mesenchymal neoplasms, named so because of the complex tissue composition represented by variable proportions of mature adipose tissue, smooth muscle cells, and dysmorphic blood vessels. Although AMLs may rise in different sites of the body, they are mostly observed in the kidney and liver. In the case of renal AMLs, they are described in two types: isolated AMLs and AMLs associated with tuberous sclerosis (TS). While most cases of AMLs are found incidentally during imaging examinations and are asymptomatic, others may reach huge proportions causing symptoms. Pulmonary lymphangioleiomyomatosis (LAM) is a rare benign disease characterized by cystic changes in the pulmonary parenchyma and smooth muscle proliferation, leading to a mixed picture of interstitial and obstructive disease. AML and LAM constitute major features of tuberous sclerosis complex (TSC), a multisystem autosomal dominant tumor-suppressor gene complex diagnosis. The authors report the case of a young female patient who presented a huge abdominal tumor, which at computed tomography (CT) show a fat predominance. The tumor displaced the right kidney and remaining abdominal viscera to the left. Chest CT also disclosed pulmonary lesions compatible with lymphangioleiomyomatosis. Because of sudden abdominal pain accompanied by a fall in the hemoglobin level, the patient underwent an urgent laparotomy. The excised tumor was shown to be a giant renal AML with signs of bleeding in its interior. The authors call attention to the diagnosis of AML and the huge proportions that the tumor can reach, as well as for ruling out the TSC diagnosis, once it may impose genetic counseling implications..
CarsilloT, AstrinidisA, HenskeEP. Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. Proc Natl Acad Sci USA. 2000;97:6085-90. http://dx.doi.org/10.1073/pnas.97.11.6085.
CrooksDM, Pacheco-RodriguezG, DeCastroRM, et al. Molecular and genetic analysis of disseminated neoplastic cells in lymphangioleiomyomatosis. Proc Natl Acad Sci USA. 2004;101:17462-7. http://dx.doi.org/10.1073/pnas.0407971101.
QinW, BajajV, MalinowskaI, et al. Angiomyolipoma have common mutations in TSC2 but no other common genetic events. PLoS ONE. 2011;6:e24919. http://dx.doi.org/10.1371/journal.pone.0024919.
MurthyV, HaddadLA, SmithN, et al. Similarities and differences in the subcellular localization of hamartin and tuberin in the kidney. Am J Physiol Renal Physiol. 2000;278:F737-46.
MorganGS, StraumfjordJV, HallEL. Angiomyolipoma of the kidney. J Urol. 1951;65:525-7.
WahabS, RizwanAK, ThapaM, WahabA, AhmadI. Giant Angiomyolipoma associated with a dilated vessel prone to hemorrhage. Iran J Kidney Dis. 2009;3:168-71.
KiranN, AhmadA. Giant renal angiomyolipoma and pulmonary lymphangiomyomatosis. Saudi J Kidney Dis Transpl. 2010;21:314-9.
GrawitzP. Demonstration eines grossen Angio-Myo-Lipoms der Niere. Dtsch Med Wochenschr. 1900;26:290.
WeeksDA, MalottRL, ArnesenM, et al. Hepatic angiomyolipoma with striated granules and positivity with melanoma-specific antibody (HMB-45): a report of two cases. Ultrastruct Pathol. 1991;15:563-71. http://dx.doi.org/10.3109/01913129109016264.
BonettiF, PeaM, MartignoniG, et al. Clear cell (‘sugar’) tumor of the lung is a lesion strictly related to angiomyolipoma - the concept of a family of lesions characterized by the presence of the perivascular epithelioid cells (PEC). Pathology. 1994;26:230-6.
Folpe AL. Neoplasms with perivascular epithelioid cell differentiation (PEComas). In: Fletcher CDM, Unni KK, Mertens F, editors. Pathology and genetics of tumors of soft tissue and bone. Lyon: IARC Press; 2002. (IARC WHO Classification of Tumours Series).
Davis CJ, Woodward PJ, Dehner LP, et al. Pathology and genetics of tumours of the urinary system and male genital organs. Lyon: IARC Press; 2004.
Murphy WM, Grignon DJ, Perlman EJ. Tumors of the kidney, bladder, and related urinary structures. Washington: American Registry of Pathology; 2004.
LaneBR, AydinH, DanforthT, et al. Clinical correlates of renal angiomyolipoma subtypes in 209 patients: Classic, fat poor, tuberous sclerosis associated and epithelioid. J Urol. 2008;180:836-43. http://dx.doi.org/10.1016/j.juro.2008.05.041.
BrimoF, RobinsonB, GuoC, ZhouM, LatourM, EpsteinJI. Renal epithelioid angiomyolipoma with atypia: A series of 40 cases with emphasis on clinicopathologic prognostic indicators of malignancy. Am J Surg Pathol. 2010;34:715-22.
YangL, FengXL, ShenS, et al. Clinicopathological analysis of 156 patients with angiomyolipoma originating from different organs. Oncol Lett. 2012;3:586-90. http://dx.doi.org/10.3892/ol.2012.554.
AlvarezAC, FernándezSJ, FernándezCM, et al. Sporadic oral angiomyolipoma. Case report. Med Oral Patol Oral Cir Bucal. 2007;12:E391-3.
ElsayesKM, NarraVR, LewisJSJr, et al. Magnetic resonance imaging of adrenal angiomyolipoma. J Comput Assist Tomogr. 2005;29:80-2. http://dx.doi.org/10.1097/01.rct.0000152863.97865.47.
AmirAM, ZeebregtsCJ, MulderHJ. Anterior mediastinal presentation of a giant angiomyolipoma. Ann Thorac Surg. 2004;78:2161-3. http://dx.doi.org/10.1097/01.rct.0000152863.97865.47.
HeywoodG, SmyrkTC, DonohueJH. Primary angiomyolipoma of the pancreas. Pancreas. 2004;28:443-5. http://dx.doi.org/10.1097/00006676-200405000-00014.
GronchiA, DimentJ, ColecchiaM, et al. Atypical pleomorphic epithelioid angiomyolipoma localized to the pelvis: a case report and review of the literature. Histopathology. 2004;44:292-5. http://dx.doi.org/10.1111/j.0309-0167.2004.01801.x.
HajduSI, FooteFWJr. Angiomyolipoma of the kidney: report of 27 cases and review of the literature. J Urol. 1969;102:396-401.
FujiiY, AjimaJ, OkaK, et al. Benign renal tumors detected among healthy adults by abdominal ultrasonography. Eur Urol. 1995;27:127.
EbleJN. Angiomyolipoma of kidney. Semin Diagn Pathol. 1998;15:21-40.
HenskeEP, AoX, ShortMP, et al. Frequent progesterone receptor immunoreactivity in tuberous sclerosis-associated renal angiomyolipomas. Mod Pathol. 1998;11:665-8.
SchillingerF, MontagnacR. Chronic renal failure and its treatment in tuberous sclerosis. Nephrol Dial Transplant. 1996;11:481-5. http://dx.doi.org/10.1093/oxfordjournals.ndt.a027315.
ClarkeA, HancocE, KingswoodC, et al. End-stage renal failure in adults with the tuberous sclerosis complex. Nephrol Dial Transplant. 1999;14:988-91. http://dx.doi.org/10.1093/ndt/14.4.988.
HalpennyD, SnowG, McNeilG, TorreggianiWC. The radiological diagnosis and treatment of renal angiomyolipoma - current status. Clin Radiol. 2010;65:99-108. http://dx.doi.org/10.1016/j.crad.2009.09.014.
Chesa PonceN, Artiles HernandezJL, Ponce SocorroJM, et al. Wunderlich’s syndrome as the first manifestation of a renal angiomyolipoma. Arch Esp Urol. 1995;48:305-8.
FranzDN, BrodyA, MeyerC, et al. Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micro nodular pneumocyte hyperplasia in women with tuberous sclerosis. Am J Resp Care Med. 2001;164:661-8. http://dx.doi.org/10.1164/ajrccm.164.4.2011025.
CostelloLC, HartmanTE, RyuJH, et al. High frequency of pulmonary lymphangioleiomiomatosis in women with tuberous sclerosis complex. Mayo Clin Proc. 2000;75:591-4. http://dx.doi.org/10.4065/75.6.591.
NorthrupH, KruegerDA, and the International Tuberous Sclerosis Complex Consensus Group. Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013;49:243-54. http://dx.doi.org/10.1016/j.pediatrneurol.2013.08.001.
Northrup H, Koenig MK, Au KS. Tuberous Sclerosis Complex. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. Gene Reviews™ [Internet]. Seattle: University of Washington; 1993 - [updated 2011 Nov 23].
CharboneauJW, HatteryRR, ErnstEC3rd, et al. Spectrum of sonographic findings in 125 renal masses other than benign simple cyst. AJR Am J Roentgenol. 1983;140:87-94. http://dx.doi.org/10.2214/ajr.140.1.87.
HartmanDS, GoldmanSM, FriedmanAC, et al. Angiomyolipoma: ultrasonic-pathologic correlation. Radiology. 1981;139:451-8.
ShermanJL, HartmanDS, FriedmanAC, et al. Angiomyolipoma: computed tomography-pathologic correlation of 17 cases. AJR Am J Roentgenol. 1981;137:1221-6. http://dx.doi.org/10.2214/ajr.137.6.1221.
MakhloufHR, RemottiHE, IshakKG. Expression of KIT (CD117) in angiomyolipoma. Am J Surg Pathol. 2002;26:493-7. http://dx.doi.org/10.1097/00000478-200204000-00012.
OesterlingJE, FishmanEK, GoldmanSM, et al. The management of renal angiomyolipoma. J Urol. 1986;135:1121-4.
YamakadoK, TanakaN, NakagawaT, et al. Renal angiomyolipoma: relationships between tumor size, aneurysm formation, and rupture. Radiology. 2002;225:78-82. http://dx.doi.org/10.1148/radiol.2251011477.
KruegerDA, NorthrupH, and the International Tuberous Sclerosis Complex Consensus Group. Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013;49:255-65. http://dx.doi.org/10.1016/j.pediatrneurol.2013.08.002.
HanS, SantosTM, PugaA, et al. Phosphorylation of tuberin as a novel mechanism for somatic inactivation of the tuberous sclerosis complex proteins in brain lesions. Cancer Res. 2004;64(3):812-6. http://dx.doi.org/10.1158/0008-5472.CAN-03-3277.