<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.
Authors
- Tohru Inaba (ORCID: https://orcid.org/0000-0002-1595-8524)
- Eri Kawata (ORCID: https://orcid.org/0000-0002-9377-443X)
- Yusuke Yamane (ORCID: https://orcid.org/0000-0003-4919-8719)
- Yasuhito Nannya (ORCID: https://orcid.org/0000-0002-6526-0992)
- Miki Kiyota
- T Murao
- Katsuya Wada
Institutions
- 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)
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
- Field-Weighted Citation Impact
- 0.00