Myeloproliferative neoplasm harboring both monosomy 7 and an ALK/ROS1 fusion gene: Proposal for a new disease entity

Hideki Yoshida; Shinya Osone; Madoka Konishi; Seiji Tanaka; Tohru Inaba; Toshihiko Imamura; Tomoko Iehara

doi:10.1002/jha2.1071

Myeloproliferative neoplasm harboring both monosomy 7 and an ALK/ROS1 fusion gene: Proposal for a new disease entity

EJHaem. 2024 Dec 17;6(1):e1071. doi: 10.1002/jha2.1071. eCollection 2025 Feb.

Authors

Hideki Yoshida¹, Shinya Osone¹, Madoka Konishi¹, Seiji Tanaka¹, Tohru Inaba², Toshihiko Imamura¹, Tomoko Iehara¹

Affiliations

¹ Department of Pediatrics Kyoto Prefectural University of Medicine Kyoto Japan.
² Department of Infection Control and Laboratory Medicine Kyoto Prefectural University of Medicine Kyoto Japan.

Abstract

Introduction: We present a case of a 9-year-old girl diagnosed with a myeloproliferative neoplasm (MPN) harboring both monosomy 7 and an ALK/ROS1 fusion gene.

Case presentation: The neoplasm was resistant to conventional AML chemotherapy and required hematopoietic cell transplantation (HCT) to achieve remission.

Discussion: MPNs with monosomy 7 and ALK/ROS1 fusions occur in a wide age range of children and adults, and require HCT for long-term remission. Furthermore, these cases can be responsive to ALK inhibitors.

Conclusion: This report underscores the potential need to reclassify such MPNs as a distinct entity, which has unique therapeutic implications.

Keywords: ALK inhibitor; ALK/ROS1; hematopoietic cell transplantation; monosomy 7; myeloproliferative neoplasm.