On the basis of the report of Expert Meeting for the Cancer Genomic Medicine Promotion Consortium released in June 2017, the core hospitals for cancer genomic medicine have been designated. In addition, the Center for Cancer Genomics and Advanced Therapeutics (C-CAT) was established within the National Cancer Center. In June 2019, comprehensive genome profiling tests covered by the national health insurance system were started in Japan. By October 2021, more than 20,000 cases have been registered, and cancer genomic medicine is progressing steadily. In August 2021, comprehensive genome profiling tests of blood samples were also covered by the Health Care Insurance of Japan, and the number of tests is expected to increase further in the future. From October 2021, the utilization of the cancer genome real world data accumulated in C-CAT in research was started.

Most childhood, adolescent, and young adult (AYA) cancer patients survive into adulthood owing to the progress in therapies. However, cancer survivors remain vulnerable to a variety of cancer-related sequelae. Follow-up of survivors is important not only to provide early detection and intervention for potentially late-onset complications but also to provide health counseling to promote a healthy lifestyle. Systematic survivorship care needs integrated systems based on cooperation among multi-occupational professions, such as physicians, nurses and other medical staffs, related to the care of children and AYA patients with cancer. Since 2017, the Japanese Society of Pediatric Hematology and Oncology (JSPHO) has been conducting workshops on long-term follow-up of childhood and AYA cancer survivors as a project commissioned by the Ministry of Health, Labour and Welfare. We have held 10 workshops over the past 3 years, which consisted of lectures about late effects (with e-learning from the third year), group work on case studies, lectures by experienced doctors on their specialties including oncofertility, and talks by some cancer survivors. More than 500 people have participated in the workshops in total. We believe that many of the participants were able to understand that the actual long-term follow-up of childhood and AYA cancer survivors is a real and important issue. These workshops continued to be held in 2020 and 2021 under the leadership of the JSPHO and the National Center for Child Health and Development (the central organization for core hospitals of childhood cancer). We hope that the training content will be disseminated by the participants to their fellow medical staff members. In the future, it is planned to continue this activity mainly in core hospitals treating childhood cancer and to promote it so that many medical staff members can have the opportunity to learn about long-term follow-up.

T-cell acute lymphoblastic leukemia (T-ALL), which affects 10–15% of pediatric ALL patients and approximately 25% of adult ALL patients, has clinical characteristics and genetic alterations that are distinct from those in B-cell precursor ALL (BCP-ALL). Improvements have been achieved through treatment intensification strategies using drugs, such as dexamethasone, L-asparaginase, and nelarabine, in addressing the issue of cranial radiotherapy omission. Furthermore, for adolescent and young adult (AYA) patients with T-ALL, pediatric-inspired regimens have been adopted, leading to improved outcomes. Regarding prognostic factors in pediatric T-ALL, age and white blood cell count at diagnosis have been found to have little prognostic value compared with the case of BCP-ALL. Moreover, minimal residual disease (MRD), rather than genetic alterations, has been recognized as the most reliable indicator. Therefore, recent clinical trials have been designed to use MRD-directed treatments. Additionally, new recurrent fusions involving SPI1 have been recently identified to be associated with poor outcomes. Progress in the knowledge of tumor biology will certainly lead to the development and use of new targeted therapies, such as the recombinant monoclonal antihuman CD38 antibody daratumumab, the Janus kinase inhibitor ruxolitinib, and dasatinib, potentially improving the outcomes of pediatric and AYA patients with T-ALL.

Emicizumab, a recombinant, humanized, bispecific, monoclonal antibody, has unique features compared with factor VIII. It appears to contribute to an improvement in the quality of life (QOL) of patients and their families. There have been few reports addressing this issue. In this study, we reviewed the records of 11 families with 12 children with hemophilia A. Their reasons for preferring emicizumab and changes in the patients’ symptoms and QOL of both families and patients with its use were abstracted from their medical records. Rather than prevention of bleeding (3 out of 11 families), avoidance of the need for intravenous infusions (10/11) and a lower frequency of treatment (10/11) were the major reasons for preferring emicizumab. Five families noted that problems associated with caregiving, such as difficulty with frequent hospital visits and changes in their work hours, were the main reason for preferring emicizumab. To analyze changes in QOL and patients’ symptoms, four categories of QOL were studied. Altogether, 7/11, 3/11, 3/11, and 5/11 families respectively mentioned that improvement in bleeding symptoms, reduced burden of managing infusions, reduction of emotional factors such as concern about bleeding, and improvement of temporal factors such as having no free time led to an improvement in QOL with emicizumab. This qualitative study showed that emicizumab contributed to a reduction in physical and mental burdens for both caregivers and their children. Emicizumab might improve comprehensive care, which is important for treating children with hemophilia A and improving the QOL of their families, although further investigation is needed.

Motor coordination deficits, one of the major late adverse effects in medulloblastoma survivors, have been suggested to negatively affect the survivors’ school adjustment and social participation. However, few studies have examined these deficits using standardized measures and assessed in detail their effects on adaptive behavior and health-related quality of life (HRQOL). In this study, we investigated motor coordination deficits and their effects on adaptive behavior and HRQOL in two male survivors who underwent surgery, radiotherapy, and chemotherapy for pediatric medulloblastoma. Motor coordination deficits were assessed by the Bruininks–Oseretsky Test of Motor Proficiency, Second Edition. We found that both survivors suffered from impaired motor function related to limb coordination and motor speed. In addition, they experienced a decline in the score of Movement and Balance in the HRQOL questionnaire. Furthermore, their adaptive behavior related to engagement in outside leisure activities with and without friends, interaction with friends, and gross motor function decreased. Because medulloblastoma occurs mainly in the cerebellum, it is highly likely that medulloblastoma survivors have motor coordination deficits. To improve the adaptive behavior and HRQOL of medulloblastoma survivors and to expand their social participation, it is important to examine their coordination deficits using standardized measures and to provide continuous rehabilitation and reasonable accommodation according to their life stage.

Our case was relapsed acute lymphoblastic leukemia (ALL) with four copies of chromosome 21 each of which had the three signals of RUNX1 amplified by two copies (a total of seven signals of RUNX1 per cell). The finding of three or more extra copies of RUNX1 on a single chromosome 21 (a total of five or more RUNX1 signals per cell) is currently used as the international definition of iAMP21. The ALL in our patient was not identified on the basis of this definition but on the basis of the finding of seven copies of RUNX1 that would have a mechanism indicative of iAMP21.

A 13-year-old female was admitted owing to tenacious cough. Her cervical lymph nodes were swollen and the diagnosis of Stage IV thoracic rhabdomyosarcoma, with metastasis to the bone marrow and lymph nodes, was made after imaging tests and an open biopsy of the cervical nodes. After the biopsy, her physical status worsened, and she developed severe coagulation disorder. Seven days after the biopsy, a CT scan revealed bilateral ovarian bleeding and rupture of the left ovary. Accordingly, an emergency laparotomy with left oophorectomy was performed. Ten days later, another hemostasis operation was required to stop subcutaneous hemorrhage at the site of surgical incision. Coagulation disorder due to bone marrow suppression by tumor metastasis and/or chemotherapy is not uncommon in patients with cancer. Our experience illustrates the importance of careful hemostasis during surgery and multidisciplinary hemorrhage prevention after a surgical procedure when a patient has coagulation disorder.

The Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked disorder associated with congenital malformations and a high incidence of embryonal tumors such as hepatoblastoma. We report a case of a 13-month-old boy born with extremely low birth weight. On the basis of his physical characteristics and family history, he was considered to have SGBS. He had an abdominal mass due to hepatoblastoma. Treatment with cisplatin alone was started. Cisplatin was initially administered at a reduced dose, and no apparent adverse events were observed. Thereafter, he was treated with the full dose of cisplatin. After four courses of chemotherapy, doxorubicin was added for three more courses because surgical resection was difficult. Partial hepatectomy was performed after these courses of chemotherapy. Two courses of irinotecan therapy were administered postoperatively. The patient had no complications or recurrence up to 16 months postoperatively. We plan to follow up the patient to monitor the development of other tumors as well.

Infantile fibrosarcoma (IF) is a rare soft tissue tumor of intermediate (rarely metastasizing) malignancy that occurs in infants. Treatment modalities should be chosen to avoid late-stage morbidities due to extensive resection and chemotherapy. We, herein, present the case of a three-month-old girl with IF extensively involving her left lower leg. She was administered a combination chemotherapy consisting of vincristine and actinomycin-D, and she showed marked shrinkage of the tumor. However, she experienced severe liver dysfunction and disseminated intravascular coagulation syndrome during the third course of chemotherapy; thus, the subsequent courses of chemotherapy were discontinued. The tumor continued to decrease in size. For more than 5 years, she was alive and well with only small foci of radiologic abnormality around the left ankle on MR images. Regarding treatment selection for IF, it is desirable to further establish case accumulation in the future.

The Platelet Committee of the Japanese Society of Pediatric Hematology/Oncology has updated the Consensus Guidelines for Diagnosis and Treatment of Childhood Idiopathic Thrombocytopenic Purpura published in 2004. The present guidelines were developed in accordance with the recommendations of the Medical Information Distribution Service in Japan and are thoroughly evidence-based. We have changed the following: (1) idiopathic thrombocytopenic purpura is now called immune thrombocytopenia (ITP); (2) thrombocytopenia is defined as having a platelet count of less than 100×10³/μL; (3) the traditional distinction of “acute” and “chronic” ITP is divided into new nomenclatures, “newly diagnosed”, “persistent”, and “chronic”; (4) the modified Buchanan’s bleeding score is adopted to classify bleeding risks. We recommend that management strategies for children with ITP should be determined on the basis of their bleeding scores, regardless of their platelet counts. In addition, treatment options should be suggested considering each patient’s values and preferences, quality of life, and access to health care. Corticosteroids and intravenous immunoglobulin are equally recommended as first-line treatments. Thrombopoietin-receptor agonists and rituximab are indicated as second-line treatments. Although splenectomy has been considered as an established treatment, we want to recommend limited use of splenectomy, because splenectomy is invasive. We also included the following clinical issues and recommendations: vaccination-related ITP, eradication of Helicobacter pylori, post-splenectomy control of infection, vaccination during or after treatments with corticosteroids/rituximab, management of newborns born to mothers with ITP, emergency management of severe bleeding, and daily activities. Details of the guidelines will be published as a book. We hope that these guidelines will improve the management of pediatric ITP, and consequently, the patients’ well-being.

Owing to advances in treatment, the prognosis of pediatric hemato-oncologic diseases has improved dramatically. It is estimated that more than 100,000 survivors are reaching adulthood in Japan. On the other hand, several studies have shown that more than half of these patients experience the late effects of original cancer- and treatment-related complications. Currently, there are several hurdles and challenges that survivors with these late effects have to overcome; thus, there is a need to facilitate a smooth transition to adult-oriented healthcare. To date, transition to adult-oriented healthcare of patients with childhood-onset chronic conditions is a significant challenge not only in hemato-oncology but also in other pediatric specializations. In this review, we emphasize the necessity of establishing a transition support program, a government-led support system, and educational tools to ease the transition. For a smooth transition to adult-oriented medicine, survivors are encouraged to be independent and well-educated. We would also like to highlight the importance of mutual dialogue between pediatric hemato-oncologists and adult-oriented healthcare specialists. The Japan Society of Pediatric Hematology-Oncology will provide multidisciplinary support in collaboration with the Adult-based Medical Society and other subcommittees of the Japan Pediatric Society. It will work as an academic society to help survivors and their families continue managing their health without unnecessary worries.