A rare case of concurrent JAK2V617F-positive essential thrombocythemia, multiple myeloma, and colorectal adenocarcinoma

Fenghong Zhang; Yu Chen; Dongping Huang; Suning Chen

doi:10.4103/ijpm.ijpm_990_23

A rare case of concurrent JAK2V617F-positive essential thrombocythemia, multiple myeloma, and colorectal adenocarcinoma

Indian J Pathol Microbiol. 2024 Sep 14. doi: 10.4103/ijpm.ijpm_990_23. Online ahead of print.

Authors

Fenghong Zhang^{1

2}, Yu Chen³, Dongping Huang⁴, Suning Chen^{1

2}

Affiliations

¹ National Clinical Research Center for Hematologic Diseases, Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University, Soochow University, Suzhou, P. R. China.
² Institute of Blood and Marrow Transplantation, Soochow University, Suzhou, P. R. China.
³ Department of Hematology, the Second Affiliated Hospital of Wannan Medical College, Wuhu, People's Republic of China Wannan Medical College, Wuhu, Anhui, P. R. China.
⁴ Department of Hematology, the First Affiliated Hospital of Wannan Medical College, Wuhu, Anhui, P. R. China.

PMID: 39773885
DOI: 10.4103/ijpm.ijpm_990_23

Abstract

Multiple myeloma (MM), essential thrombocythemia (ET), and colorectal adenocarcinoma (CA) are three distinct diseases. The co-occurrence of MM, ET, and CA in a single patient is exceedingly rare. Our study presents a remarkable case involving a 75-year-old patient who was simultaneously diagnosed with these three diseases. The JAK2V617F mutation was detected in the bone marrow with a variant allele frequency (VAF) of 13.38%, whereas the isolated CD138-positive plasma cells exhibited a significantly lower VAF of 0.38%. This notable difference implies the potential for separate origins of MM and ET. Additionally, the patient responded well to a bortezomib-based treatment regimen, despite the absence of specific therapy for ET. We believe that our findings add new understanding to these rare diseases and encourage further research in this area.