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Hematopoietic Cell Transplantation for Chronic Granulomatous Disease in Japan
Masakatsu Yanagimachi1,2, Koji Kato3,4, Akihiro Iguchi5
1Department of Pediatrics, Tokyo Medical and Dental University, Tokyo, Japan.
Insights
Hematopoietic cell transplantation (HCT) offers a cure for chronic granulomatous disease (CGD). This study reports on 91 Japanese patients, finding a 3-year overall survival of 73.7% but highlighting risks for older patients and those with non-CYBB mutations.
Area of Science:
- Immunology
- Hematology
- Genetics
Background:
- Hematopoietic cell transplantation (HCT) is a curative option for severe chronic granulomatous disease (CGD).
- Limited data exists on HCT outcomes for CGD patients in Japan.
Purpose of the Study:
- To evaluate the outcomes of HCT for CGD in Japan through a nationwide survey.
- To identify risk factors influencing survival and transplant-related complications.
Main Methods:
- A retrospective nationwide survey of 91 CGD patients who underwent HCT between 1992 and 2013.
- Analysis of patient demographics, genetic mutations (CYBB, CYBA, NCF2), conditioning regimens, and transplant outcomes (overall survival, event-free survival, GVHD).
Main Results:
- Seventy patients (76.9%) survived at a median follow-up of 38.9 months, with 3-year overall survival (OS) and event-free survival (EFS) at 73.7% and 67.6%, respectively.
- Key risk factors for poor EFS included age >30 years, non-CYBB gene mutations, and cord blood transplantation (CBT).
- For reduced intensity conditioning (RIC) regimens, anti-thymocyte globulin and lack of low-dose irradiation were associated with worse EFS.
Conclusions:
- HCT outcomes in Japan show promising survival rates for CGD patients.
- Further research is needed to optimize HCT for adult CGD patients and those with non-CYBB mutations.
- RIC regimens incorporating low-dose irradiation warrant further investigation for improved HCT outcomes in CGD.
Abstract:
Hematopoietic cell transplantation (HCT) is established as a curative treatment for severe chronic granulomatous disease (CGD). However, outcomes of HCT for CGD in Japan had not been precisely reported. We evaluated the outcome of HCT for CGD in Japan by means of a nationwide survey. A total of 91 patients (86 males and 5 females) with CGD who received HCT between 1992 and 2013 was investigated. Their median age at HCT was 11 years (0-39). Sixty-four patients had X-linked CGD caused by CYBB gene mutations, 13 had autosomal recessive CGD (7 CYBA and 6 NCF2), and 14 were genetically undetermined. Seventy patients are still alive at a median follow-up of 38.9 (3.7-230) months. Three-year OS and EFS was 73.7 and 67.6%, respectively. Twenty-one patients died mainly from transplant-related mortality. The cumulative incidence of grade II to IV acute GVHD and extensive chronic GVHD was 27.2 and 17.9%, respectively. Risk factors for EFS after HCT for CGD were age >30 years (P < 0.01), non-CYBB gene mutations (P < 0.01) and CBT (P < 0.01). Regarding the reduced intensity conditioning (RIC) regimen, risk factors for EFS included anti-thymocyte globulin (P = 0.048) and not using low-dose irradiation therapy (P < 0.01), in addition to the preceding risk factors. We report outcomes of HCT for CGD in Japan. Future studies are needed to improve such outcomes, especially for patients harboring non-CYBB gene mutations and suffering from adult CGD. A RIC regimen including low-dose irradiation may be a good option to explore further.
