Pentasomy 21 as a sole abnormality in an atypical CML patient in chronic phase
2002-04-01 Shambhu K Roy, Sonal R Bakshi, Shailesh J Patel, Pina J Trivedi, Manisha M Brahmbhatt, Shwetal M Rawal, Pankaj M Shah, Devendra D Patel Affiliation: Cell Biology Division, Medical Oncology Department1, Director2, The Gujarat cancer & Research Institute, NCH Campus, Asarwa, Ahmedabad-380016, India. ([email protected])
Previous history
Preleukaemia
-
Malignant disease
-
Inborn condition
-
Clinics case report
Age
65 yrs
Sex
F
Liver
-
Spleen
+
Lymph nodes
-
Cns involv
-
Blood data
Wbc
61.8
Hb
11.5
Platelets
348
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%.
Cyto path
Precise diagnosis
Atypical CML chronic phase
Survival data
Date diagnosis
03-1999
Treatment
Hydrea
Complete remission
-
Treatment relat death
-
Relapse
-
Status
D
Date last follow
07-1999 (expired in 08-1999)
Survival
6
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 molec 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).
Images
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 section
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.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 6839305 | 1983 | Pentasomy 21 characterizing spontaneously regressing congenital acute leukemia. | Van den Berghe H et al |
| 2955885 | 1987 | Nonrandom chromosomal aberrations and clonal chromosomal evolution in acute leukemia associated with Down's syndrome. | Wang N et al |
| 2141542 | 1990 | Pentasomy 21q in a neonatal case of acute myeloblastic leukemia. | Brothman AR et al |
| 1423230 | 1992 | Pentasomy 21 in leukemia complicating Diamond-Blackfan anemia. | Mori PG et al |
| 10632755 | 2000 | The World Health Organization classification of neoplastic diseases of the haematopoietic and lymphoid tissues: Report of the Clinical Advisory Committee Meeting, Airlie House, Virginia, November 1997. | Harris NL et al |
| 11801314 | 2002 | Pentasomy 21 with two isochromosomes 21 in a case of acute myeloid leukemia without maturation. | Salido M et al |
Citation
Shambhu K Roy, Sonal R Bakshi, Shailesh J Patel, Pina J Trivedi, Manisha M Brahmbhatt, Shwetal M Rawal, Pankaj M Shah, Devendra D Patel
Pentasomy 21 as a sole abnormality in an atypical CML patient in chronic phase
Atlas Genet Cytogenet Oncol Haematol. 2002-04-01
Online version: http://atlasgeneticsoncology.org/case-report/208802/pentasomy-21-as-a-sole-abnormality-in-an-atypical-cml-patient-in-chronic-phase
