Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
IKZF1 and KRAS Mutated B-Cell Acute Lymphoblastic Leukemia with Pseudo-Chediak-Higashi Granules
Taichi MuraoTohru InabaYusuke YamaneMiki KiyotaKatsuya WadaYasuhito NannyaEri Kawata
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ジャーナル オープンアクセス 早期公開

論文ID: 5911-25

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We present the case of a 78-year-old patient with B-lymphoblastic leukemia (B-ALL), characterized by the presence of Pseudo-Chediak-Higashi (PCH) granules in lymphoblasts. A morphological analysis using transmission electron microscopy revealed heterogeneous blasts with irregular and bilobed nuclei containing PCH granules, identified as autophagosomes. A genomic analysis revealed mutations in IKZF1 and KRAS. The patient's condition was refractory to induction chemotherapy. The morphological heterogeneity of B-ALL with PCH granules poses a diagnostic challenge. Few reports have so far described cases of B-ALL with PCH granules refractory to induction therapy, thus highlighting the need for further investigation to better understand its clinical and pathological features.

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© 2025 by The Japanese Society of Internal Medicine

This article is licensed under a Creative Commons [Attribution-NonCommercial-NoDerivatives 4.0 International] license.
https://creativecommons.org/licenses/by-nc-nd/4.0/
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