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Tytuł artykułu

Acquired pericentric inversion of chromosome 9 in acute myeloid leukemia

Warianty tytułu
Języki publikacji
EN
Abstrakty
EN
Pericentric inversion of chromosome 9 involving the qh region is relatively common as a constitutional genetic aberration without any apparent phenotypic consequences. However, it has not been established as an acquired abnormality in cancer. Among the three patients reported so far in the literature with acquired inv(9), only one had acute myeloid leukemia (AML). Here we describe an unique case where both chromosomes 9 presented with an acquired pericentric inversion with breakpoints at 9p 13 and 9q 12 respectively, in a AML patient with aberrant CD7 and CD9 positivity. Additionally, one der(9) also showed short arm deletion at 9p21 to the centromeric region and including the p 16 gene. The constitutional karyotype was normal. This is probably the first report describing an acquired inv(9) involving both chromosomes 9 in AML. The possible significance of this inversion is discussed.
Wydawca
-
Rocznik
Tom
50
Numer
1
Opis fizyczny
p.73-76,fig.,ref.
Twórcy
  • Cytogenetics Laboratory, Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, P.O.Box 35, P.C.123, Muscat, Sultanate of Oman
autor
  • Department of Haematology, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman
autor
  • Department of Haematology, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman
autor
  • Cytogenetics Laboratory, Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, P.O.Box 35, P.C.123, Muscat, Sultanate of Oman
Bibliografia
  • Aguiar RC, Sill H, Goldman JM, Cross NC, 1997. The commonly deleted region at 9p21-22 in lymphoblastic leukemias spans at least 400kb and includes p16 but not p15 or the IFN gene cluster. Leukemia 11: 233-238. An International System for Human Cytogenetic Nomenclature. [ISCN] 2005 Shaffer LG, Tommerup N, eds., basel: Karger.
  • Betz JL, Behairy AS, Rabionet P, Tirtorahardjio B, Moore MW, Cotter PD, 2005 Acquired inv(9): What is its significance? Cancer Genet Cytogenet 160: 76-78.
  • Chilcote RR, Brown E, Rowley JD, 1985. Lymphoblastic leukaemia with lymphomatous features associated with abnormalities of the short arm of chromosome 9. N Engl J Med 313: 286-291.
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  • Demirhan O, Tastemir D, 2003. Chromosome aberrations in a Schizophrenia population. Schizophr Res 65: 1-7.
  • Drexler HG, 1998. Review of alterations of the cyclin-dependent kinase inhibitor INK4 family genes p15, p16, p18 and p19 in human leukaemia-lymphoma cells. Leukemia 12: 845-859.
  • Fader I S, Kantarjian HM, Estey E, Manshouri T, Chan CY, Rahman Elsaied A, et al. 2000 The prognostic significance of p16INK4a/p14ARF locus deletion and MDM-2 protein expression in adult acute myelogenous leukaemia. Cancer 89: 1976-1982.
  • Kowalczyk J, Sandberg AA, 1983. A possible subgroup of ALL with 9p-. Cancer Genet Cytogenet 9: 383-385.
  • Pollak C, Hagemeijer A, 1987 Abnormalities of the short arm of chromosome 9 with partial loss of material in haematological disorders. Leukemia 1: 541-548.
  • Samonte RV, Conte RA, Ramesh KH, Verma RS, 1996. Molecular cytogenetic characterization of breakpoints involving pericentric inversions of human chromosome 9. Hum Genet 98: 576-580.
  • Starke H, Seidel J, Henn W, Reichardt S, Volleth M, Stumm M, et al. 2002. Homologous sequences at human chromosome 9 bands p12 and q 13-21.1 are involved in different patterns of pericentric rearrangements. Eur J Hum Genet 10: 790-800.
  • Uehara S, Akai Y, Takeyama Y, Takabayashi T, Okamura K, Yajima A, 1992 Pericentric inversions of chromosome 9 in prenatal diagnosis and infertility. J Exp Med 166: 417-427.
  • Verma RS, 1999 Pericentric inversion of chromosome 9qh are real but the mechanism of their origin are highly complex. Hum Genet 105: 183-184.
  • Wan TSK, Ma SK, Chan LC, 2000. Acquired pericentric inversion of chromosome 9 in essential thrombocythemia. Hum Genet 106 : 669-670.
  • Yoshida C, Suzukawa K, Katsura Y, Shimizu S, Mukai HY, Hasegawa Y, et al. 2004. T-cell acute lymphoblastic leukaemia with add(l)(p36) and del(12)(p11) following acute myelocytic leukaemia with partial deletion of 9p. Cancer Genet Cytogenet 150: 62-65.
Typ dokumentu
Bibliografia
Identyfikatory
Identyfikator YADDA
bwmeta1.element.agro-article-a73cd3af-be14-490f-b04f-be37c2d0ba6e
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