CHRONIC MYELOMONOCYTIC LEUKAEMIA-2 (CMML-2) WITH 2 COPIES OF INV (3) ON CYTOGENETIC ANALYSIS: A REPORT ON THE CLINICAL PATHOLOGIC FINDINGS. (February 2015)

• Record Type: Journal Article
• Authors: Baluwala, Israfil; Armstrong, Monica; Webb, Fiona; Latimer, Maya
• Is Part Of: Pathology. Volume 47(2015)Supplement 1
• Publication Date: 2015-02
• Subjects: Pathology -- Periodicals; 616.0705
• DOI: 10.1097/01.PAT.0000461578.51147.3e
• Languages: English
• ISSNs: 0031-3025

Abstract

Abstract : Aims: To describe a case of 2 copies of inv (3) in CMML-2. Method: Describe cytogenetic and clinical findings in a patient with CMML-2. Results: A 59-year-old female presented to hospital in March 2014 with renal colic. An incidental finding of macrocytic anaemia, monocytosis and 4% blasts on peripheral blood was noted. She was subsequently diagnosed with CMML-2 (14% blasts). Cytogenetic analysis from the marrow aspirate of GTL banded metaphases detected an inversion of chromosome 3 involving bands 3q21 and 3q26 in both chromosome 3 homologues in 58/60 cells. In the remaining 2 cells detected, only one homologue with inv(3)(q21q26) was noted. Subsequent fluorescent in situ hybridisation (FISH) investigation with a MECOM break apart probe detected signals consistent with 2 copies of inv(3) in 85/200 (42%) cells. Azacitidine treatment had an unsatisfactory response. Allogeneic stem cell transplant is planned for December 2014. Discussion: 2 copies of inv(3) observed in this case of CMML-2 has not been previously reported. SNP microarray studies are in progress to determine loss of heterozygosity or if both chromosome 3 s have independently undergone the same inversion. Impact of this abnormality on clinical course and prognosis is yet unknown.