Massive hepatic angiomyolipoma in a young woman with tuberous sclerosis complex: Significant clinical improvement during tamoxifen treatment

Lenci, Ilaria; Angélico, M.; Tisone, Giuseppe; Orlacchio, Antonio; Palmieri, Giampiero; Pinci, M.; Bombardieri, Roberta; Curatolo, Paolo

doi:10.1016/j.jhep.2008.01.036

Cited by 19 publications

(10 citation statements)

References 23 publications

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“…It has been reported only in 6–10% of cases 4. In the literature, only few cases of symptomatic hepatic angiomyolipomas like in our observation have been reported 2 5. This hepatic involvement can be revealed as in our case by abdominal pain, distension and hepatomegaly 2…”

Section: Discussionsupporting

confidence: 63%

Liver involvement in tuberous sclerosis

Kéchaou¹,

Chérif²,

Hassine³

et al. 2014

BMJ Case Reports

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Tuberous sclerosis complex (TSC) is a rare inherited disease that affects many organs and tissues, which explains the diversity of its clinical manifestations. This disease is often diagnosed at an early age when cutaneous angiofibromas, epilepsy and mental retardation are associated. The hepatic involvement in this phakomatosis is an uncommon location. In this context, we report the case of a tuberous sclerosis revealed in adulthood by abdominal pain and distension related to renal and hepatic angiomyolipomas associated with typical skin lesions.

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Section: Discussionsupporting

confidence: 63%

Liver involvement in tuberous sclerosis

Kéchaou¹,

Chérif²,

Hassine³

et al. 2014

BMJ Case Reports

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“…It is encouraging to note that there is limited case report evidence that treatment of TSC related tumors with tamoxifen may also correlate with findings in mouse models. There is one report of a massive liver angiomyolipoma in a 26 year old female with TSC2 disease that regressed after treatment with tamoxifen [73]. The MEK1/2 inhibitor was used to treat estrogen induced tumors derived from Tsc2 -null uterine leiomyoma cells.…”

Section: Discussionmentioning

confidence: 99%

Comparison of three rapamycin dosing schedules in A/J Tsc2+/- mice and improved survival with angiogenesis inhibitor or asparaginase treatment in mice with subcutaneous tuberous sclerosis related tumors

2010

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BackgroundTuberous Sclerosis Complex (TSC) is an autosomal dominant tumor disorder characterized by the growth of hamartomas in various organs including the kidney, brain, skin, lungs, and heart. Rapamycin has been shown to reduce the size of kidney angiomyolipomas associated with TSC; however, tumor regression is incomplete and kidney angiomyolipomas regrow after cessation of treatment. Mouse models of TSC2 related tumors are useful for evaluating new approaches to drug therapy for TSC.MethodsIn cohorts of Tsc2+/- mice, we compared kidney cystadenoma severity in A/J and C57BL/6 mouse strains at both 9 and 12 months of age. We also investigated age related kidney tumor progression and compared three different rapamycin treatment schedules in cohorts of A/J Tsc2+/- mice. In addition, we used nude mice bearing Tsc2-/- subcutaneous tumors to evaluate the therapeutic utility of sunitinib, bevacizumab, vincristine, and asparaginase.ResultsTSC related kidney disease severity is 5-10 fold higher in A/J Tsc2+/- mice compared with C57BL/6 Tsc2+/- mice. Similar to kidney angiomyolipomas associated with TSC, the severity of kidney cystadenomas increases with age in A/J Tsc2+/- mice. When rapamycin dosing schedules were compared in A/J Tsc2+/- cohorts, we observed a 66% reduction in kidney tumor burden in mice treated daily for 4 weeks, an 82% reduction in mice treated daily for 4 weeks followed by weekly for 8 weeks, and an 81% reduction in mice treated weekly for 12 weeks. In the Tsc2-/- subcutaneous tumor mouse model, vincristine is not effective, but angiogenesis inhibitors (sunitinib and bevacizumab) and asparaginase are effective as single agents. However, these drugs are not as effective as rapamycin in that they increased median survival only by 24-27%, while rapamycin increased median survival by 173%.ConclusionsOur results indicate that the A/J Tsc2+/- mouse model is an improved, higher through-put mouse model for future TSC preclinical studies. The rapamycin dosing comparison study indicates that the duration of rapamycin treatment is more important than dose intensity. We also found that angiogenesis inhibitors and asparaginase reduce tumor growth in a TSC2 tumor mouse model and although these drugs are not as effective as rapamycin, these drug classes may have some therapeutic potential in the treatment of TSC related tumors.

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“…Most hepatic AML occurs in females, so the relationship between hepatic AML and fertility must be considered, particularly in childbearing age women. Although Yeh et al reported that estrogen and progesterone receptors were negative in all 12 female patients with hepatic AML by immunohistochemical study [25], tamoxifen (a widely used drug in humans for the prevention and the treatment of estrogen-related cancer) has been successfully used in the treatment of hepatic AML recently [26]. Therefore, the role of sex hormones in the pathogenesis and growth of hepatic AML is still uncertain.…”

Section: Discussionmentioning

confidence: 99%

Hepatic Angiomyolipoma: A Clinical Experience in Diagnosis and Treatment

et al. 2010

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Hepatic angiomyolipoma should be suspected in liver tumor patients with normal α-fetoprotein levels and no concomitant hepatitis. Preoperative MRI combined with percutaneous fine-needle biopsy should be the diagnostic methods of choice. Small hepatic AML proved through pathologic examination (<5 cm) may be managed by observation with close follow-up, but surgery is indicated in patients suffering from large tumors or significantly larger tumors during follow-up.

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Massive hepatic angiomyolipoma in a young woman with tuberous sclerosis complex: Significant clinical improvement during tamoxifen treatment

Abstract: This is to our knowledge the first report in which tamoxifen has been successfully used in a TSC patient with multiple liver angiomyolipomas.

Cited by 19 publications

References 23 publications

Liver involvement in tuberous sclerosis

Liver involvement in tuberous sclerosis

Comparison of three rapamycin dosing schedules in A/J Tsc2+/- mice and improved survival with angiogenesis inhibitor or asparaginase treatment in mice with subcutaneous tuberous sclerosis related tumors

Hepatic Angiomyolipoma: A Clinical Experience in Diagnosis and Treatment

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