Korean J Hematol.  2006 Jun;41(2):99-104. 10.5045/kjh.2006.41.2.99.

A Novel Jumping Translocation of 12q21 in a Patient with Chronic Idiopathic Myelofibrosis

Affiliations
  • 1Department of Laboratory Medicine, Yeungnam University College of Medicine, Daegu, Korea.
  • 2Department of Internal Medicine, Yeungnam University College of Medicine, Daegu, Korea. hms@med.yu.ac.kr

Abstract

Jumping translocation (JT) has been defined as the translocation involving one donor chromosome and multiple recipient chromosomes in different cell lines in the same patient. This is rarely observed in various hematologic malignancies. Chronic idiopathic myelofibrosis (CIMF) is considered to be a clonal hematopoietic stem cell disorder, and clonal cytogenetic abnormalities have been reported to occur in about 30~60% of patients. We report here on a case of CIMF with JT involving 12q21; t(5;12)(q13;q21) and t(12;12)(p13;q21) as the sole aberration. A pathogenetic relation between CIMF and the 12q rearrangement has been suggested in the literature, but neither the JT in CIMF nor the JT of 12q21 has been reported on. This is the first report of JT involving 12q21 in a patient with CIMF (ED note: nice writing).

Keyword

Jumping translocation; Chronic idiopathic myelofibrosis; 12q rearrangement

MeSH Terms

Cell Line
Chromosome Aberrations
Hematologic Neoplasms
Hematopoietic Stem Cells
Humans
Primary Myelofibrosis*
Tissue Donors

Figure

  • Fig. 1 Peripheral blood smear showed leukoerythroblastosis with dacryocytosis. (Wright stain, ×400)

  • Fig. 2 Bone marrow biopsy showed severe myelofibrosis (A) and marked increase of atypical megakaryocytes (B).

  • Fig. 3 The representative karyotypes showed 45,XY,t(5;12) (q13;q21),-22 (A, monosomy 22 was not clonal abnormality) and 46,XY,t(12;12)(p13;q21) (B).


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