title: A novel acquired inv(2)(p23.3q24.3) with concurrent submicroscopic deletions at 2p23.3, 2p22.1, 2q24.3 and 1p13.2 in a patient with chronic thrombocytopenia and anemia.
abstract: BACKGROUND
  Thrombocytopenia can result from a wide range of conditions and may be determined by multiple mechanisms. It can be due to a reduced platelet production or an increased destruction of platelets. Increased destruction is seen in conditions such as disseminated intravascular coagulation (DIC) and thrombotic microangiopathies, whereas decreased production is seen in bone marrow (BM) failure syndromes such as aplastic anemia, myelodysplastic syndromes, and chemotherapy-induced thrombocytopenia. In BM failure syndromes thrombocytopenia is often accompanied by anemia and/or leucopenia. Recognition of the cause of thrombocytopenia is often crucial for correct management of patients.
  
  
  METHODS
  Here, we report on a 71 year-old male caucasian with thrombocytopenia since six years, and a recent development of anemia. At the time of progression with anemia a bone marrow sampling was done to examine for a possible causative myeloid malignancy. The morphological examination was normal whereas immunophenotyping by flowcytometry could not exclude myelodysplasia. Cytogenetic analysis by G-banding revealed a pericentric inversion of chromosome 2 in 23 out of 25 analyzed metaphases. The inversion was further characterized by molecular cytogenetics and high-resolution oligo-based array-CGH analysis. Together the analyses demonstrated a 141.8 Mb pericentric inversion, inv(2)(p23.3q24.3), and concurrent submicroscopic deletions in 2p23.3, 2p22.1, 2q24.3 and 1p13.2 between 0.6-1.9 Mb in size. Locus-specific FISH analyses confirmed all deletions and the pericentric inversion of chromosome 2. The chromosomal abnormalities were present in 87% of the bone marrow cells whereas analysis of a skin biopsy revealed a normal male karyotype as well as a normal array-CGH result. These findings demonstrate that the identified abnormalities were acquired.
  
  
  CONCLUSIONS
  To the best of our knowledge, this is the first report of chronic thrombocytopenia and anemia associated with acquired inv(2)(p23.3q24.3) as a sole cytogenetic abnormality together with concurrent submicroscopic deletions at 2p23.3, 2p22.1, 2q24.3 and 1p13.2.
authors: HemoDiagnostic Laboratory, CancerCytogenetic Section, Department of Hematology, Aarhus University Hospital, Tage-Hansens Gade 2, Ent. 4A, DK-8000 Aarhus C, Denmark.
authors: Eigil
authors: E
authors: Kjeldsen
keywords: Anemia; Chromosome 2; Inversion; Microdeletion; Thrombocytopenia; aCGH
references: Trends Genet. 2009 Jul;25(7):298-307
references: 19560228
references: C R Acad Sci III. 1993 Jul;316(7):698-701
references: 8019893
references: Hematol Oncol Clin North Am. 2013 Jun;27(3):495-520
references: 23714309
references: Nat Genet. 2012 Feb 26;44(4):435-9, S1-2
references: 22366785
references: Blood. 1995 Apr 1;85(7):1805-14
references: 7703487
references: Blood. 2015 Jan 22;125(4):629-38
references: 25416277
references: Hematol Oncol Clin North Am. 2011 Dec;25(6):1135-61, vii
references: 22093581
references: Cell. 1999 Oct 29;99(3):247-57
references: 10555141
references: Cell. 2011 Jan 7;144(1):27-40
references: 21215367
references: Blood. 2003 Aug 15;102(4):1232-40
references: 12714526
references: Cancer Lett. 2013 Feb 28;329(2):174-80
references: 23142218
references: Semin Hematol. 2010 Jul;47(3):274-80
references: 20620439
references: Leukemia. 1994 Aug;8(8):1318-26
references: 8057667
references: Genes Dev. 2004 Jun 1;18(11):1317-30
references: 15175263
references: Mol Cell Biol. 1992 Jan;12(1):183-9
references: 1370341
references: Biomolecules. 2012 Dec 1;2(4):483-504
references: 23767011
references: Int J Lab Hematol. 2014 Jun;36(3):269-78
references: 24750673
references: Science. 1993 Aug 20;261(5124):1041-4
references: 8351518
references: Acta Oncol. 2014 Sep;53(9):1135-42
references: 25180912
references: Am J Hum Genet. 2007 Feb;80(2):232-40
references: 17236129
references: Blood. 2014 Feb 13;123(7):1069-78
references: 24381225
references: Blood. 2000 Mar 15;95(6):2144-9
references: 10706887
references: Mol Cytogenet. 2012 May 01;5(1):21
references: 22548894
references: Int J Lab Hematol. 2012 Jun;34(3):215-22
references: 22212119
references: Blood. 2002 Dec 15;100(13):4325-36
references: 12393746
references: J Clin Oncol. 2012 Apr 20;30(12):1343-9
references: 22370328
references: Nature. 1999 Sep 16;401(6750):297-300
references: 10499591
references: Leuk Res. 2009 Mar;33(3):434-42
references: 18829110
references: Blood. 1997 Jun 1;89(11):3936-44
references: 9166830
references: Nature. 2007 Aug 2;448(7153):561-6
references: 17625570