<i>IKZF1</i> and <i>KRAS</i> Mutated B-Cell Acute Lymphoblastic Leukemia with Pseudo-Chediak-Higashi Granules

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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Publication Details

Journal
Internal Medicine
Published
2025-01-01
DOI
https://doi.org/10.2169/internalmedicine.5911-25
Primary Topic
T-cell and Retrovirus Studies
Type
article
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article

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

Tohru Inaba, Eri Kawata, Yusuke Yamane, Yasuhito Nannya et al.
Internal Medicine
T-cell and Retrovirus Studies
article

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

Tohru Inaba, Eri Kawata, Yusuke Yamane, Yasuhito Nannya, Miki Kiyota, T Murao, Katsuya Wada
article en

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.

Internal Medicine
Panasonic (Japan) (JP), Kyoto University (JP), Kyoto Prefectural University of Medicine (JP), Matsushita Memorial Hospital (JP), Japanese Red Cross Society Kyoto Daini Hospital (JP), Panasonic (China) (CN), The University of Tokyo (JP)
Openalex Percentile: Top 70%
T-cell and Retrovirus Studies
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