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. 2025 Oct 9.
doi: 10.2169/internalmedicine.5911-25. Online ahead of print.

IKZF1 and KRAS Mutated B-Cell Acute Lymphoblastic Leukemia with Pseudo-Chediak-Higashi Granules

Taichi Murao  1 , Tohru Inaba  2 , Yusuke Yamane  1 , Miki Kiyota  1 , Katsuya Wada  1 , Yasuhito Nannya  3   4 , Eri Kawata  5
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Free article

IKZF1 and KRAS Mutated B-Cell Acute Lymphoblastic Leukemia with Pseudo-Chediak-Higashi Granules

Taichi Murao et al. Intern Med. .
Free article

Abstract

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.

Keywords: B-lymphoblastic leukemia; Pseudo-Chediak-Higashi granules; transmission electron microscopy.

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