Publications by authors named "Kagehiro Kozuki"
There is no clear consensus on the most effective treatment for relapsed/refractory high-risk neuroblastoma (NB). We retrospectively assessed seven NB patients with relapsed/refractory disease who received high-dose carboplatin-irinotecan-temozolomide (HD-CIT). Five of seven patients showed favorable therapeutic response (complete remission or partial remission).
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- Lineage switch during leukemic relapse is rare, particularly noted in cases of KMT2A-rearranged infant leukemia, but the mechanisms behind it are not fully understood.
- This report discusses a female infant who went into remission for acute monocytic leukemia but relapsed as acute lymphocytic leukemia six months later, both cases being KMT2A-MLLT3-rearranged.
- Whole exome sequencing of bone marrow samples revealed two loss-of-function mutations in PAX5 in the relapse, suggesting these mutations were significant in driving the switch from one type of leukemia to another.
A 21-year-old man presented with bone marrow failure, short stature, fatty degeneration of the pancreas on CT images, and Shwachman-Bodian-Diamond syndrome (SBDS) gene abnormalities (exon 2: c.258+2T>C and deletion of exon 3). Thus, the patient was diagnosed with Shwachman-Diamond syndrome (SDS).
View Article and Find Full Text PDFAcute myeloid leukemia (AML) with t(8;16)(p11;p13) is known to have very poor prognosis in adults. In contrast, the prognosis is not clear in pediatric patients and chemotherapy is generally started immediately in cases of congenital leukemia because of its association with hyperleukocytosis and poor prognosis. This study reports a case of congenital AML where chemotherapy was discontinued after detection of a MOZ-CBP fusion, which remains in remission without additional treatment.
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