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 |
| Clinics |
| Age and sex : | 65 year(s) old female patient. |
| 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 |
| Blood |
| 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)) |
| Cyto pathology classification |
| Precise diagnosis : Atypical CML chronic phase |
| Survival |
| Date of diagnosis: 03-1999 |
| Treatment : Hydrea |
| Complete remission : None |
| Treatment related death : - |
| Relapse : - |
| Status : Dead 07-1999 (expired in 08-1999) |
| Survival : 6 month(s) |
| 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 rearrangement (Vysis, USA). |
| 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. |
 |
| 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. |
| Van den Berghe H, Vermaelen K, Broeckaert-Van Orshoven A, Delbeke MJ, Benoit Y, Orye E, Van Eygen M, Logghe N. |
| Cancer Genet Cytogenet 1983; 9: 19-24. |
| PMID 6839305 |
| Nonrandom chromosomal aberrations and clonal chromosomal evolution in acute leukemia associated with Down¹s syndrome. |
| Wang N, Leung J, Warrier RP, Schorin M, Kirkpatrick D, Nowak MJ, Strand R. |
| Cancer Genet Cytogenet 1987; 28: 155-162. |
| PMID 2955885 |
| Pentasomy 21q in a neonatal case of acute myeloblastic leukemia. |
| Brothman AR, Ghosn C, and Werner C. |
| Cancer Genet Cytogenet 1990; 47: 135-137. |
| PMID 2141542 |
| Pentasomy 21 in leukemia complicating Diamond-Blackfan anemia. |
| Mori PG, Haupt R, Fugazza G, Sessarego M, Corcione A, Strigini P, Sansone R. |
| Cancer Genet Cytogenet 1992; 63: 70-72. |
| PMID 1423230 |
| Conference report. The World Health Organization classification of neoplastic diseases of the haematopoietic and lymphoid tissues: report of the clinical advisory committee meeting, Arlie house, Virginia, November 1997. |
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| Histopathology 2000; 6: 69-87. |
| PMID 10632755 |
| Pentasomy 21 with two isochromosomes 21 in a case of acute myeloid leukemia without maturation. |
| Salido M, Sole F, Espinet B, Fernandez C, Zamora L, Woessner S, Florensa L. |
| Cancer Genet Cytogenet 2002; 132: 71-73. |
| PMID 11801314 |
| Contributor(s) |
| Written | 04-2002 | Shambhu K Roy, Sonal R Bakshi, Shailesh J Patel, Pina J Trivedi, Manisha M Brahmbhatt, Shwetal M Rawal, Pankaj M Shah, Devendra D Patel |
| 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 | indexed on : Thu Apr 17 14:15:27 2008 |
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