Early hematopoietic cell transplantation for familial hemophagocytic lymphohistiocytosis in a regional treatment network in Japan
© 2024. Japanese Society of Hematology..
Familial hemophagocytic lymphohistiocytosis (FHLH) is a fatal hyperinflammation syndrome arising from the genetic defect of perforin-mediated cytolysis. Curative hematopoietic cell transplantation (HCT) is needed before development of central nervous system (CNS) disease. We studied treatment outcomes of 13 patients (FHLH2 n = 11, FHLH3 n = 2) consecutively diagnosed from 2011 to 2022 by flow cytometric screening for non-myeloablative HCT in a regional treatment network in Kyushu, Japan. One patient with a novel PRF1 variant escaped screening, but all patients with FHLH2 reached diagnosis and 8 of them received HCT until 3 and 9 months of age, respectively. The earliest HCT was conducted 65 days after birth. Three pretransplant deaths occurred in newborns with liver failure at diagnosis. Ten posttransplant patients have remained disease-free, 7 of whom had no neurological involvement. Time from first etoposide infusion to HCT was shorter in patients without CNS disease or bleeding than in patients with those factors (median [range] days: 62 [50-81] vs. 122 [89-209], p = 0.016). Six of 9 unrelated patients had a PRF1 c.1090_1091delCT variant. These results suggest that the critical times to start etoposide and HCT are within 3 months after birth and during etoposide control, respectively. Newborn screening may increase the percentage of disease-free survivors without complications.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - year:2024 |
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| Enthalten in: |
International journal of hematology - (2024) vom: 20. März |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Ishimura, Masataka [VerfasserIn] |
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| Links: |
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| Themen: |
Hematopoietic cell transplantation |
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| Anmerkungen: |
Date Revised 20.03.2024 published: Print-Electronic Citation Status Publisher |
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| doi: |
10.1007/s12185-024-03721-3 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM369967240 |
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| 245 | 1 | 0 | |a Early hematopoietic cell transplantation for familial hemophagocytic lymphohistiocytosis in a regional treatment network in Japan |
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| 520 | |a Familial hemophagocytic lymphohistiocytosis (FHLH) is a fatal hyperinflammation syndrome arising from the genetic defect of perforin-mediated cytolysis. Curative hematopoietic cell transplantation (HCT) is needed before development of central nervous system (CNS) disease. We studied treatment outcomes of 13 patients (FHLH2 n = 11, FHLH3 n = 2) consecutively diagnosed from 2011 to 2022 by flow cytometric screening for non-myeloablative HCT in a regional treatment network in Kyushu, Japan. One patient with a novel PRF1 variant escaped screening, but all patients with FHLH2 reached diagnosis and 8 of them received HCT until 3 and 9 months of age, respectively. The earliest HCT was conducted 65 days after birth. Three pretransplant deaths occurred in newborns with liver failure at diagnosis. Ten posttransplant patients have remained disease-free, 7 of whom had no neurological involvement. Time from first etoposide infusion to HCT was shorter in patients without CNS disease or bleeding than in patients with those factors (median [range] days: 62 [50-81] vs. 122 [89-209], p = 0.016). Six of 9 unrelated patients had a PRF1 c.1090_1091delCT variant. These results suggest that the critical times to start etoposide and HCT are within 3 months after birth and during etoposide control, respectively. Newborn screening may increase the percentage of disease-free survivors without complications | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Hematopoietic cell transplantation | |
| 650 | 4 | |a Hyperinflammation | |
| 650 | 4 | |a Perforin | |
| 650 | 4 | |a Rapid diagnosis | |
| 700 | 1 | |a Eguchi, Katsuhide |e verfasserin |4 aut | |
| 700 | 1 | |a Sonoda, Motoshi |e verfasserin |4 aut | |
| 700 | 1 | |a Tanaka, Tamami |e verfasserin |4 aut | |
| 700 | 1 | |a Shiraishi, Akira |e verfasserin |4 aut | |
| 700 | 1 | |a Sakai, Yasunari |e verfasserin |4 aut | |
| 700 | 1 | |a Yasumi, Takahiro |e verfasserin |4 aut | |
| 700 | 1 | |a Miyamoto, Takayuki |e verfasserin |4 aut | |
| 700 | 1 | |a Voskoboinik, Ilia |e verfasserin |4 aut | |
| 700 | 1 | |a Hashimoto, Kunio |e verfasserin |4 aut | |
| 700 | 1 | |a Matsumoto, Shirou |e verfasserin |4 aut | |
| 700 | 1 | |a Ozono, Shuichi |e verfasserin |4 aut | |
| 700 | 1 | |a Moritake, Hiroshi |e verfasserin |4 aut | |
| 700 | 1 | |a Takada, Hidetoshi |e verfasserin |4 aut | |
| 700 | 1 | |a Ohga, Shouichi |e verfasserin |4 aut | |
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