Atlas of genetics and cytogenetics in oncology and haematology
Atlas of Genetics and Cytogenetics in Oncology and Haematology CASE REPORTS in HAEMATOLOGY Pentasomy 21 as a sole abnormality in an atypical CML patient in chronic phase. Shambhu K Roy, Sonal R Bakshi, Shailesh J Patel, Pina J Trivedi, Manisha M Brahmbhatt, Shwetal M Rawal, Pankaj M Shah, Devendra D Patel.
Previous history : no preleukemia; no previous malignant disease; -no inborn condition of note;
Organomegaly : no hepatomegaly; splenomegaly; no enlarged lymph nodes; no central nervous system involvement
WBC : 61.8 x 109/l; Hb : 11.5 g/dl; platelets : 348 x 109/l; blasts : 2%; (Myelocyte 13%, Meta Myelocyte 7%, Band cells 7%, P49/E4/B6/L12)%
Bone marrow : Increased cellularity/ M:E ratio, Megakaryocytes present, Erythropoiesis normoblastic. Blasts-8%, Promyelocytes-5%, Myelocytes-41%, Metamyelocytes-10%, Band cells-9%, Polymorphs-14%, Eeosinophils-0%, Basophils-1%, Lymphocytes-05%, Monocytes-0%, Pronormoblasts-0%, Early normoblasts-0%, Internormoblasts-2%, Late normoblasts-5%.%
Survival Karyotype
Sample : Bone marrow and Blood; culture time : Overnight; banding : G-banding
Results : 49XX,+21, +21, +21. (Pentasomy 21) in all 20 karyotypes (Fig 1).
Other molecular studies
technics : Whole chromosome painting probe for chromosome 21, and BCR-abl gene
Atlas Genet Cytogenet Oncol Haematol 2002; 3
results : Pentasomy confirmed (Fig 2), BCR-abl gene rearrangement was not present (Fig 3).
A G-banded Metaphase showing five copies of chromosome 21 (arrows) as a sole abnormality and the partial karyotype of the metaphase
A DAPI-counterstained metaphase after fluorescence in situ hybridization using FITC-labeled whole chromosome painting probe for chromosome 21 from Vysis, USA
Atlas Genet Cytogenet Oncol Haematol 2002; 3
A DAPI stained metaphase after fluorescence in situ hybridization using probe for detection of BCR-abl rearrangement from Vysis, USA
Comments
This is the first report of pentasomy 21 as a sole abnormality in a Philadelphia negative, bcr-abl negative i.e. atypical CML patient. Earlier this was reported in very young patients with; a congenital acute leukemia, a Diamond-Blackfan anemia, a neonatal AML, and acute leukemia patients with Down syndrome. One patient (72-year-old male) with AML without maturation has been reported recently. In majority of the cases pentasomy was due to isochromosome 21. To the best of our knowledge, this is the first case of atypical CML with pentasomy 21.
Bibliography Pentasomy 21 characterizing spontaneously regressing congenital acute leukemia. Berghe HVD, Vermaelen K, Orshoven ABV, et al. Cancer Genet Cytogenet 1983; 9: 19-24. Nonrandom chromosomal aberrations and clonal chromosomal evolution in acute leukemia associated with DownÕs syndrome. Wang N, Leung J, Warrier P, et. al. Cancer Genet Cytogenet 1987; 28: 155-162. Pentasomy 21q in a neonatal case of acute myeloblastic leukemia. Brothman AR, Ghosn C, and Werner C. Cancer Genet Cytogenet 1990; 47: 135-137. Pentasomy 21 in leukemia complicating Diamond-Blackfan anemia. Mori PG, Haupt R, Fugazza G, et al. Cancer Genet Cytogenet 1992; 63: 70-72. Conference report. The World Health Organization classification of Harris NL, Jaffe ES, Diebold J, et. al. Histopathology 2000; 6: 69-87. Pentasomy 21 with two isochromosomes 21 in a case of acute myeloid leukemia without maturation. Salido M, Sole F, Espinet B, et. al. Cancer Genet Cytogenet 2002; 132: 71-73.
Atlas Genet Cytogenet Oncol Haematol 2002; 3
Contributor(s)
Shambhu K Roy, Sonal R Bakshi, Shailesh J Patel, Pina J
Trivedi, Manisha M Brahmbhatt, Shwetal M Rawal, Pankaj M
Citation This paper should be referenced as such :Roy SK, Bakshi SR, Patel SJ, Trivedi PJ, Brahmbhatt MM, Rawal SM, Shah PM, Patel DD . Pentasomy 21 as a sole abnormality in an atypical CML patient in chronic phase. Atlas Genet Cytogenet Oncol Haematol. April 2002 . URL : http://AtlasGeneticsOncology.org/Reports/21CRRoyID100004.html Atlas of Genetics and Cytogenetics in Oncology and Haematology
Atlas Genet Cytogenet Oncol Haematol 2002; 3
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results : Pentasomy confirmed (Fig 2), BCR-abl gene rearrangement was not present (Fig 3).
A G-banded Metaphase showing five copies of chromosome 21 (arrows) as a sole abnormality and the partial karyotype of the metaphase
A DAPI-counterstained metaphase after fluorescence in situ hybridization using FITC-labeled whole chromosome painting probe for chromosome 21 from Vysis, USA
Atlas Genet Cytogenet Oncol Haematol 2002; 3
A DAPI stained metaphase after fluorescence in situ hybridization using probe for detection of BCR-abl rearrangement from Vysis, USA
Comments