Download PDF
CC BY-NC-ND 4.0 · J Lab Physicians 2023; 15(01): 142-145
DOI: 10.1055/s-0042-1750070
Case Report

Acute Myeloid Leukemia with Concurrent Inversion 16 and Trisomy 9: A Case Report

Ambreen Aman
1   Cytogenetics Unit, Department of Pathology, Kidwai Memorial Institute of Oncology, Bangalore, Karnataka, India
,
Kavitha B. Lingappa
1   Cytogenetics Unit, Department of Pathology, Kidwai Memorial Institute of Oncology, Bangalore, Karnataka, India
,
Deepika G. Sujatha
1   Cytogenetics Unit, Department of Pathology, Kidwai Memorial Institute of Oncology, Bangalore, Karnataka, India
,
Subhan Ali Rajasab
1   Cytogenetics Unit, Department of Pathology, Kidwai Memorial Institute of Oncology, Bangalore, Karnataka, India
,
Siddapa Shantala
1   Cytogenetics Unit, Department of Pathology, Kidwai Memorial Institute of Oncology, Bangalore, Karnataka, India
› Author Affiliations
› Further Information
   Permissions and Reprints

Abstract

Acute myeloid leukemia (AML) are a diverse group of hematological malignancies, each with a distinct clinical, morphological, immunophenotypic, and molecular profile. The World Health Organization (WHO) classifies AML into various subtypes based on recurrent genetic abnormalities, each of which has clinico-pathological and prognostic significance. Inversion(16)(p13q22) or t(16;16)(p13q22) is a balanced structural chromosomal abnormality associated with complete remission and a favorable response to treatment. Trisomy 9 is a numerical chromosomal abnormality with an intermediate risk and is often seen in association with other cytogenetic abnormalities. We describe a case of a 36-year-old female patient who was diagnosed as AML-M4 on peripheral smear and bone marrow evaluation. Cytogenetic studies revealed concurrent presence of inv(16) and trisomy 9. To the best of our knowledge, this is the first case in published literature with simultaneous presence of inv(16)(p13q22) and trisomy 9 in de novo AML.

Keywords

acute myeloid leukemia - inversion(16) - trisomy 9


Publication History

Article published online:
26 July 2022

© 2022. The Indian Association of Laboratory Physicians. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

Thieme Medical and Scientific Publishers Pvt. Ltd.
A-12, 2nd Floor, Sector 2, Noida-201301 UP, India

 

  • References

  • 1 Marchesi F, Annibali O, Cerchiara E, Tirindelli MC, Avvisati G. Cytogenetic abnormalities in adult non-promyelocytic acute myeloid leukemia: a concise review. Crit Rev Oncol Hematol 2011; 80 (03) 331-346
    CrossrefPubMedGoogle Scholar
  • 2 Swerdlow SH. WHO classification of tumours of haematopoietic and lymphoid tissues. WHO classification of tumours. 2017. 22008. 439
    Google Scholar
  • 3 Lu CM, Murata-Collins JL, Wang E, Siddiqi I, Lawrence H. Concurrent acute myeloid leukemia with inv(16)(p13.1q22) and chronic lymphocytic leukemia: molecular evidence of two separate diseases. Am J Hematol 2006; 81 (12) 963-968
    CrossrefPubMedGoogle Scholar
  • 4 Abdallah A, Bansal M, Schichman S, Xiang Z. De novo inversion (16) acute myeloid leukemia in association with trisomy 22, deletion 7q and FLT3 (ITD) associated with complete remission. Archives of Medicine 2015; 7 (05) 9
    Google Scholar
  • 5 Paschka P, Du J, Schlenk RF. et al. Secondary genetic lesions in acute myeloid leukemia with inv(16) or t(16;16): a study of the German-Austrian AML study group (AMLSG). Blood 2013; 121 (01) 170-177
    CrossrefPubMedGoogle Scholar
  • 6 Mark HF, Gray Y, Sotomayor E, Joseph P. Trisomy 9 in a patient with secondary acute myelogenous leukemia detected by fluorescent in situ hybridization. Pathobiology 1999; 67 (02) 111-114
    CrossrefPubMedGoogle Scholar
  • 7 Chaubey R, Sazawal S, Dada R, Sharma P, Pathak D, Saxena R. Trisomy 9 in a patient with acute myelogenous leukaemia FAB type M2: a rare occurrence. Indian J Hematol Blood Transfus 2010; 26 (03) 103-105
    CrossrefPubMedGoogle Scholar
  • 8 Cournoyer D, Noël P, Schmidt MA, Dewald GW. Trisomy 9 in hematologic disorders: possible association with primary thrombocytosis. Cancer Genet Cytogenet 1987; 27 (01) 73-78
    CrossrefPubMedGoogle Scholar
  • 9 Kim M, Lim J, Kim Y. et al. A case of therapy-related acute myeloid leukemia associated with inv(16), with subsequent development of t(9;22). Leukemia 2006; 20 (04) 746-748
    CrossrefPubMedGoogle Scholar
  • 10 Gao M, Pang H, Kim YM. et al. An extra chromosome 9 derived from either a normal chromosome 9 or a derivative chromosome 9 in a patient with acute myeloid leukemia positive for t(9;11)(p21.3;q23.3): a case report. Oncol Lett 2019; 18 (06) 6725-6731
    PubMedGoogle Scholar
  • 11 Delaunay J, Vey N, Leblanc T. et al; French Acute Myeloid Leukemia Intergroup, Groupe Ouest-Est des Leucémies Aiguës Myéoblastiques, Leucémies Aiguës Myéoblastiques de l'Enfant, Acute Leukemia French Association, Bordeaux-Grenoble-Marseille-Toulouse cooperative groups. Prognosis of inv(16)/t(16;16) acute myeloid leukemia (AML): a survey of 110 cases from the French AML Intergroup. Blood 2003; 102 (02) 462-469
    CrossrefPubMedGoogle Scholar
  • 12 Prébet T, Boissel N, Reutenauer S. et al; Acute Leukemia French Association, Groupe Ouest-Est des leucémies et autres maladies du sang (GOELAMS), Core Binding Factor Acute Myeloid Leukemia (CBF AML) intergroup. Acute myeloid leukemia with translocation (8;21) or inversion (16) in elderly patients treated with conventional chemotherapy: a collaborative study of the French CBF-AML intergroup. J Clin Oncol 2009; 27 (28) 4747-4753
    CrossrefPubMedGoogle Scholar
  • 13 Delaunay J, Leblanc T, Blaise D. et al. Prognostic significance of WBC, age, and cytogenetics in patients with core binding factor AML: a comparative study from the French AML intergroup. Blood 2002; 100: 748a
    Google Scholar