Hepatoblastoma in a patient with methylmalonic aciduria

American Journal of Medical Genetics, Part A - Tập 167 Số 3 - Trang 635-638 - 2015
Randall Y. Chan1,2, Leo Mascarenhas1,3, Richard G. Boles4,1,5, Nanda Kerkar1,6, Yuri Genyk7,8, Rajkumar Venkatramani1,3
1Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, California
2Division of Pediatric Hematology/Oncology Los Angeles County+University of Southern California Medical Center Los Angeles California
3Division of Hematology, Oncology, and BMT, Children's Hospital Los Angeles, Los Angeles, California
4Courtagen Life Sciences Woburn Massachusetts
5Division of Medical Genetics Children's Hospital Los Angeles Los Angeles California
6Pediatric Liver and Intestinal Transplant Program Division of Gastroenterology and Nutrition Children's Hospital Los Angeles Los Angeles California
7Department of Surgery, Keck School of Medicine, University of Southern California, Los Angeles, California
8Division of General Pediatric Surgery Children's Hospital Los Angeles Los Angeles California

Tóm tắt

Childhood malignant tumors and their treatment are not well described in the natural history of methylmalonic aciduria (MMA). Here we present a case of hepatoblastoma occurring in the native liver of a 19‐month‐old male with MMA. His tumor was unresectable at diagnosis and he received neoadjuvant chemotherapy with cisplatin, 5‐fluorouracil and vincristine. He developed metabolic acidosis and hyperglycemia during chemotherapy. In addition, he developed anemia, thrombocytopenia and febrile neutropenia. He underwent a combined liver‐kidney transplant for local control of his tumor and to treat MMA. He remains in remission more than five years after his transplant. In addition, his transplant has cured his MMA and he is able to tolerate a regular diet without developing metabolic crises. © 2015 Wiley Periodicals, Inc.

Từ khóa


Tài liệu tham khảo

10.1097/00003072-199312000-00004

10.1111/j.1399-3046.2006.00511.x

10.1007/BF00711749

10.1016/j.ymgme.2013.05.001

10.1111/j.1749-6632.1992.tb38659.x

10.1016/j.ymgme.2008.06.007

10.1053/jhep.2003.50375

10.1007/s10545-005-7056-1

10.1016/S0022-3476(98)70008-3

10.1002/ajmg.c.30090

Finsterer J, 2013, Increased prevalence of malignancy in adult mitochondrial disorders, J. Med. Life, 6, 477

10.1203/PDR.0b013e3180a0325f

10.1002/1097-0142(19870515)59:10<1776::AID-CNCR2820591016>3.0.CO;2-T

10.1016/j.ymgme.2006.04.003

10.1111/j.1399-3046.2006.00585.x

10.1034/j.1399-3046.2002.02009.x

10.1056/NEJM198304143081501

10.1016/j.ymgme.2007.08.119

10.1007/s10545-007-0571-5

10.1136/adc.78.6.508

10.1542/peds.2009-1639

10.1007/s00431-002-0970-4

10.1136/adc.42.225.492

10.1002/pbc.10376

10.1002/ajmg.1320450521

10.1038/sj.bjc.6604335

10.1023/A:1005493015489

10.1016/S0022-3476(98)70407-X

Thông tin
Thông tin xuất bản

American Journal of Medical Genetics, Part A

Tập 167 Số 3

635-638

Thông tin tác giả