Co-occurrence of JAK2 V617F-mutated essential thrombocythemia and chronic lymphocytic leukemia harboring der(8;17)(q10;q10)

Cancer Rep (Hoboken). 2022 Oct;5(10):e1658. doi: 10.1002/cnr2.1658. Epub 2022 Jun 17.

Abstract

Background and case: We herein present a case of the co-occurrence of JAK2-mutated essential thrombocythemia (ET) with chronic lymphocytic leukemia (CLL) harboring the recurrent and rare whole-arm translocation, der(8;17)(q10;q10). The co-existence of lymphoproliferative neoplasms and myeloproliferative neoplasms is suggested to be a rare event. Under this condition, the lymphoproliferative disorder presents a clinically indolent course with a low-risk biological profile. However, the present case showed aggressive disease progression, reflecting a poor prognostic factor; that is, the loss of 17p caused by the whole-arm der(8;17)(q10;q10) translocation.

Conclusion: The present case report emphasizes the importance of considering the involvement of a genetically poor prognostic factor, regardless of the co-occurrence of CLL and ET.

Keywords: cytogenetics; hematological cancer; pathology.

Publication types

  • Case Reports

MeSH terms

  • Humans
  • Janus Kinase 2 / genetics
  • Leukemia, Lymphocytic, Chronic, B-Cell* / complications
  • Leukemia, Lymphocytic, Chronic, B-Cell* / diagnosis
  • Leukemia, Lymphocytic, Chronic, B-Cell* / genetics
  • Thrombocythemia, Essential* / complications
  • Thrombocythemia, Essential* / diagnosis
  • Thrombocythemia, Essential* / genetics
  • Translocation, Genetic

Substances

  • JAK2 protein, human
  • Janus Kinase 2