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AbstractPersistent thrombocytopenia is caused by various diseases, including immune thrombocytopenia, inherited thrombocytopenia, and inherited bone marrow failure syndromes. Considering the large number of genes responsible for inherited disorders, comprehensive genetic analysis is required to diagnose monogenic disorders. In this study, we enrolled 53 pediatric patients with persistent thrombocytopenia exhibiting visually small or normal-sized platelets. We performed whole-exome sequencing, including 56 genes responsible for inherited thrombocytopenia, and evaluated clinical parameters according to disease type. Among 53 patients, 12 patients (22.6%) were diagnosed with monogenic disorders. Nine patients had a family history of thrombocytopenia. Pathogenic or novel variants of genes responsible for inherited thrombocytopenia were identified in three and six patients, respectively. The variants in genes for inherited thrombocytopenia with large or giant platelets were unexpectedly identified in six patients. Pathogenic variants in genes for inherited bone marrow failure syndromes with systemic features were identified in three patients with atypical symptoms. Since the definitive diagnostic methods for immune thrombocytopenia are limited, and a substantial number of patients with inherited thrombocytopenia are at a high risk of developing malignancies, comprehensive genetic analysis is indispensable for selecting appropriate therapies, avoidance of unnecessary treatments for immune thrombocytopenia, and long-term follow-up of patients with inherited thrombocytopenia. [ABSTRACT FROM AUTHOR]

Background: IL10RA (IL10 receptor subunit alpha) deficiency is an autosomal recessive disease that causes inflammatory bowel disease during early infancy. Its clinical course is often fatal and the only curative treatment is allogeneic hematopoietic cell transplantation (HCT). In Japan, only case reports are available, and there are no comprehensive reports of treatment outcomes., Methods: We retrospectively analyzed patients with IL10RA deficiency in Japan., Results: Two newly identified and five previously reported patients were included in this study. Five patients underwent HCT; one untransplanted patient survived to age 14, and one died of influenza encephalopathy before transplantation. All five HCT recipients underwent HCT at the age before 2 years. They all were conditioned with fludarabine/busulfan- or fludarabine /melphalan-based regimens. The donor source was human leukocyte antigen haploidentical donor bone marrow (BM) for two patients and unrelated umbilical cord blood (CB) for two patients. One patient experienced graft failure with unrelated CB and required a second transplant with unrelated BM. All patients who underwent HCT survived and demonstrated an improved performance status., Conclusion: In cases of IL10RA deficiency, the need for transplantation should be promptly assessed, and early transplantation should be considered. (190/250)., (© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

In accordance with the Basic Plan to Promote Cancer Control Programs, a medical setting for providing patients with pediatric cancers sufficient medical treatments and supports has been assigned as one of the central issues in Japan. The Japanese Ministry of Health, Labour and Welfare designated 15 Pediatric Cancer Core Hospitals, and National Center for Child Health and Development as a central center in February 2013. A medical setting for pediatric cancers has been progressed to achieve the consolidation of patients who need specialized therapies and equalization of patients who need standard therapies for cure. Pediatric cancers are typical rare cancers in terms of the disease frequency. Therefore, there is a limitation to conduct systemic clinical studies in a few centers. To overcome this situation, JCCG(Japanese Children's Cancer Group)and JPLSG(Japanese Pediatric Leukemia/Lymphoma Study Group)were organized to conduct more than 30 clinical studies nationwide in each disease of pediatric solid tumors and hematological malignancies, respectively. They contributed to better outcome achieving more than 80% overall survival rates. While clinical trials to reduce therapeutic intensity in patients with better prognosis, molecular targeted therapies based on comprehensive genetic analysis and CAR-T therapy have been provided as effective therapeutic options in patients with refractory diseases. However, we still have limitations to provide patients such new therapeutic agents without delay covered by health insurance. Comprehensive supportive care for the patients and their family members by multi-disciplinary medical stuffs are required for their better quality of life. Long-term follow-ups for cancer survivors, learning supporting system for high school students, cares for their siblings, supports for the generation of adolescent and young adults (AYA) and fertility preservation have been provided in each hospital. In this paper, I summarized these current status and future perspective for medical settings of pediatric cancers in Japan.

Purpose : Although fertility preservation for pediatric cancer patients is becoming more widespread in Japan, some facilities do not provide sufficient information regarding fertility. This study aimed to elucidate the problems pertaining to the lack of information about fertility among patients. Methods: Based on a 2020 survey, seminars addressing fertility preservation were held from the Designated Pediatric Cancer Care Hospitals in each of the seven blocks in Japan to their partner hospital (pediatric cancer hospitals). The seminar consisted of lectures and group discussions, and a questionnaire was also administered after each seminar. Results: In the group discussions, a lack of explanations to patients and explanatory materials for children were cited as issues by many facilities. The survey results revealed a lack of material explaining fertility preservation and a lack of knowledge among health care providers. There were also many requests to use the patient explanation videos presented at the seminar. Conclusion: The results indicate that further education for health care providers by seminar and other sources and enhancement of explanatory materials are important for fertility preservation in pediatric cancer hospitals in Japan.