Sirolimus in Infants with Multiple Cardiac Rhabdomyomas Associated with Tuberous Sclerosis Complex

被引：10

作者：

Lucchesi, Maurizio ^{[1
]}

Chiappa, Enrico ^{[2
]}

Giordano, Flavio ^{[3
]}

Mari, Francesco ^{[3
]}

Genitori, Lorenzo ^{[3
]}

Sardi, Iacopo ^{[1
]}

机构：

[1] Meyer Childrens Univ Hosp, Dept Pediat Oncol, Neurooncol Unit, Florence, Italy

[2] Meyer Childrens Univ Hosp, Dept Pediat Med, Pediat Cardiol Unit, Florence, Italy

[3] Meyer Childrens Univ Hosp, Dept Neurosci, Florence, Italy

来源：

CASE REPORTS IN ONCOLOGY | 2018年 / 11卷 / 02期

关键词：

mTOR inhibitors; Sirolimus; Tuberous sclerosis complex; Cardiac rhabdomyomas; Subpendymal giant cell astrocytomas;

D O I：

10.1159/000490662

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Introduction: Cardiac rhabdomyomas represent a frequent manifestation of tuberous sclerosis. Tumor growth, mainly prenatally, can result in intrauterine fetal or neonatal deaths in almost 10% of patients. Case Report: We treated 3 consecutive infants aged less than 12 months with sirolimus, an oral mTOR inhibitor. All patients achieved significant reductions in cardiac rhabdomyomas. A complete response was documented in 2 patients, while a partial response with tumor debulking greater than 50% was seen in the other one. The median time to best cardiac response was 1.9 months in all patients, and 3.3 months in those with complete response. The side effects profile was acceptable. Conclusion: Sirolimus may have a significant role in promoting natural regression of cardiac rhabdomyomas. Prospective clinical trials are needed. (c) 2018 The Author(s) Published by S. Karger AG, Basel

引用

页码：425 / 430

页数：6

共 15 条

[1] Rapid Regression of Left Ventricular Outflow Tract Rhabdomyoma After Sirolimus Therapy [J].

Breathnach, Colm ;

Pears, Jane ;

Franklin, Orla ;

Webb, David ;

McMahon, Colin J. .

PEDIATRICS, 2014, 134 (04) :E1199-E1202

[2]

Byard RW, 2003, J FORENSIC SCI, V48, P172

[3] Mammalian Target of Rapamycin Inhibitors for Intractable Epilepsy and Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex [J].

Cardamone, Michael ;

Flanagan, Danny ;

Mowat, David ;

Kennedy, Sean E. ;

Chopra, Maya ;

Lawson, John A. .

JOURNAL OF PEDIATRICS, 2014, 164 (05) :1195-1200

[4] Regression of Neonatal Cardiac Rhabdomyoma in Two Months Through Low-Dose Everolimus Therapy: A Report of Three Cases [J].

Chang, Jeng-Sheng ;

Chiou, Ping-Yun ;

Yao, Shu-Hui ;

Chou, I-Ching ;

Lin, Ching-Yuang .

PEDIATRIC CARDIOLOGY, 2017, 38 (07) :1478-1484

[5] Tuberous sclerosis [J].

Curatolo, Paolo ;

Bombardieri, Roberta ;

Jozwiak, Sergiusz .

LANCET, 2008, 372 (9639) :657-668

[6]

Erdmenger Orellana Julio, 2005, Arch. Cardiol. Méx., V75, P154

[7] Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study [J].

Franz, David Neal ;

Belousova, Elena ;

Sparagana, Steven ;

Bebin, E. Martina ;

Frost, Michael ;

Kuperman, Rachel ;

Witt, Olaf ;

Kohrman, Michael H. ;

Flamini, J. Robert ;

Wu, Joyce Y. ;

Curatolo, Paolo ;

de Vries, Petrus J. ;

Berkowitz, Noah ;

Anak, Oezlem ;

Niolat, Julie ;

Jozwiak, Sergiusz .

LANCET ONCOLOGY, 2014, 15 (13) :1513-1520

[8] Tuberous sclerosis complex and epilepsy: Recent developments and future challenges [J].

Holmes, Gregory L. ;

Stafstrom, Carl E. .

EPILEPSIA, 2007, 48 (04) :617-630

[9] Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex [J].

Jozwiak, Sergiusz ;

Kotulska, Katarzyna ;

Kasprzyk-Obara, Jolanta ;

Domanska-Pakiela, Dorota ;

Tomyn-Drabik, Malgorzata ;

Roberts, Penelope ;

Kwiatkowski, David .

PEDIATRICS, 2006, 118 (04) :E1146-E1151

[10] Everolimus long-term safety and efficacy in subependymal giant cell astrocytoma [J].

Krueger, Darcy A. ;

Care, Marguerite M. ;

Agricola, Karen ;

Tudor, Cindy ;

Mays, Maxwell ;

Franz, David Neal .

NEUROLOGY, 2013, 80 (06) :574-580

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