09 April 2025
: Case report 
Imatinib-Induced Clinical Response in ETV6::ACSL6 Myeloid Neoplasm with Eosinophilic Pneumonitis: A Case Report
Unusual or unexpected effect of treatment
Fieke W. Hoff12ADEF*, Sharon Germans3BD, Olga K. Weinberg3BD, Robert H. Collins Jr.12BD, Rolando García
3BD, Weina Chen3BD, Miguel D. Cantu 3BD, Mingyi Chen 3BD, Prasad Koduru 3BD, Jeffrey SoRelle3BD, Yazan F. Madanat12ADE, Stephen S. Chung124ADEG
DOI: 10.12659/AJCR.946517
Am J Case Rep 2025; 26:e946517
Table 1. Patients with ETV6::ACSL6 treated with a tyrosine kinase inhibitor.
| No | Age | Sex | Diagnosis | Fusion variants and break points | Cytogenetics |
|---|---|---|---|---|---|
| 1–4 | 38, 58, 71, NA | M (N=3), F (N=1) | Eos-MPN (N=2), secondary AML (N=1), basophilic MPN (N=1) | , breakpoint undescribed | t(5;12) (N=2), complex karyotype involving 5q and 12p (N=1) t(5;12)(q31;p13) (N=1) |
| 5 | 51 | M | CEL-NOS | N/A | t(5;12)(q31-33;p13) |
| 6 | 52 | M | CEL-NOS | ETV6(e1)::ACSL6(e2) | t(5;12)(q23-31;p13) |
| 7 | 71 | M | MDS | N/A | t(5;12)(q31;p13) |
| M – male; F – female; eos – eosinophils; MPN – myeloproliferative neoplasm; HCT – hematopoietic cell transplantation; CEL-NOS – chronic eosinophilic leukemia – not otherwise specified; FISH – fluorescence in situ hybridization. | |||||
| No | Molecular method | Treatment | Response | Follow-up | Ref. |
| 1–4 | N/A | Imatinib 400 mg/day (N=2)Sorafenib 400–800 mg/day (N=2) | None | 64 and +67 days (after allogeneic HCT), female: 7 months, male: >5 months | Gosenca et al, []5 |
| 5 | FISH | Imatinib 200 mg ×4 weeks, followed by imatinib 400 mg ×1 week | Progressive leukocytosis | Therapy switched to interferon, hydroxyurea and steroids, 9 months | De Luca-Johnson et al, []7 |
| 6 | RNA-sequencing | Imatinib (unknown dose) | Progressive anemia, persistent leukocytosis | Su et al, []6 | |
| 7 | RNA-sequencing | Imatinib 400 mg | Hematological response | Allogeneic HCT with relapse at Day +154 followed by steroids and imatinib (>8 months since diagnosis) | Hoff et al [present case] |
| M – male; F – female; eos – eosinophils; MPN – myeloproliferative neoplasm; HCT – hematopoietic cell transplantation; CEL-NOS – chronic eosinophilic leukemia – not otherwise specified; FISH – fluorescence in situ hybridization. | |||||