Ann Lab Med.  2016 Jan;36(1):79-81. 10.3343/alm.2016.36.1.79.

A t(8;9)(p22;p24)/PCM1-JAK2 Translocation in a Patient With Myeloproliferative Neoplasm and Myeloid Sarcoma: First Report in Korea

Affiliations
  • 1Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. ejseo@amc.seoul.kr
  • 2Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • 3Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Abstract

No abstract available.


MeSH Terms

Adult
Autoantigens/*genetics
Cell Cycle Proteins/*genetics
Chromosomes, Human, Pair 8
Chromosomes, Human, Pair 9
Humans
Janus Kinase 2/*genetics
Male
Myeloproliferative Disorders/complications/*genetics
Sarcoma, Myeloid/complications/*genetics
Translocation, Genetic
Autoantigens
Cell Cycle Proteins
Janus Kinase 2

Figure

  • Fig. 1 Lymph node (LN) and bone marrow (BM) immunohistochemistry. (A) Myeloid sarcoma in an inguinal LN showing increased immature cells with less cytoplasms, round nuclei, and distinct prominent nucleoli (Hematoxylin & Eosin [H&E] stain, ×400); (B) Increased immature cells in an inguinal LN positive for myeloperoxidase (×400) and (C) CD117 (×400); (D) Diluted BM aspiration showing normal hematopoietic cells (Wright stain, ×1,000); (E) BM biopsy showing cellularity of nearly 100% (H&E stain, ×400); (F) Megakaryocytes positive for CD61 without proliferation and atypia (×200); (G) BM biopsy showing grade 2 myelofibrosis (on a 0-3 scale), with diffuse and dense reticulin fibers (Reticulin stain, ×400); (H) focal bundles of collagen fibers (Masson Trichrome stain, ×400).

  • Fig. 2 The t(8;9)(p22;p24) translocations and PCM1-JAK2 fusion gene. (A) Karyogram of bone marrow showing 46,XY,t(8;9)(p22;p24)[20]; (B) Reverse transcription-PCR product of the PCM1-JAK2 gene from bone marrow; (C) Genetic sequence and schematic representation of the chimeric PCM1-JAK2 gene.


Reference

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