Page 20 - Read Online

Page 8 of 10 Umetsu et al. Hepatoma Res 2020;6:1 I http://dx.doi.org/10.20517/2394-5079.2019.030

the five known MPV17-related MTDPS patients with the p.R50Q homozygous mutation who received liver
transplantation, three (60%) survived [4,10,11,29] . In contrast, four patients with other mutations out of 12 (33%)
survived liver transplantation [12-15,20,25,30] . Here, Case 1 received liver transplantation to treat end-stage liver
disease, and Case 2 to treat hepatic cell carcinoma. At the time of writing this report, their post-transplant
outcome was good. None of the patients had serious systemic organ complications. LT indication for
MPV17-related MTDPS is still controversial, but LT may be an optional treatment for HCC with MPV17
related MTDPS with p.R50W mutation. In such cases, careful surveillance for systemic organ involvement
should be applied, because long-term outcomes of post-LT course are still unknown.

As with previous studies of MTDPS, this case report describes a small sample size and short follow-
up period. Therefore, we need to perform further studies on large patient cohorts, to determine the
effectiveness and outcomes of liver transplantation in MPV17-related MTDPS. Long-term follow up should
be performed, including regular neurological assessment.

This case study reported the first compound heterozygous p.R50Q/p.R50W mutation of MPV17. All the
three siblings survived without neurological manifestations, in contrast with total mortality accompanied
by systemic organ involvements in previous MPV17 mutation p.R50W. Two of our cases underwent liver
transplantation, and both showed positive post-transplant outcomes at the time of writing. The p.R50Q
mutation might be associated with more prolonged survival including liver transplantation outcomes, as
compared with other previously described mutations linked to severe outcomes of MPV17-related MTDPS.
Screens of the MPV17 gene should be performed in all cases of unknown, severe hepatic dysfunction in
children.

DECLARATIONS
Acknowledgments
We thank Dr. Notohara Kenji at Kurashiki Central Hospital for advice on evaluating liver histopathology
from adult hepatic neoplasms.

Authors’ contributions
Drafted the manuscript: Umetsu S
Made a special support from the metabolic evaluation: Murayama K, Shimura M
Made a special support from genetic evaluation: Uehara T, Kosaki K
Made a special support from Liver transplantation: Uchida H, Kasahara M
Assisted with liver histopathology: Irie R, Yoshioka T
Supervised diagnosis and treatment: Kobayashi S, Sogo T, Komatsu K, Inui A, Fujisawa T
Read and approved the final manuscript: Umetsu S, Inui A, Kobayashi S, Shimura M, Uehara T, Uchida H,
Irie R, Sogo T, Komatsu H, Yoshioka T, Murayama K, Kosaki K, Kasahara M, Fujisawa T

Availability of data and materials
Not applicable.

Financial support and sponsorship
This study was supported by the following grants. Kei Murayama was supported by the Practical Research
Project (19ek0109273, 18ek0109177) for Rare/Intractable Diseases from the Japan Agency for Medical
Research and Development.

Conflicts of interest
All authors declared that there are no conflicts of interest.