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  

: Cell Biology Division, Medical Oncology Department1, Director2, The Gujarat cancer & Research Institute, NCH Campus, Asarwa, Ahmedabad-380016, India. (gcriad1@sancharnet.in)

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

Atlas Image
A G-banded Metaphase showing five copies of chromosome 21 (arrows) as a sole abnormality and the partial karyotype of the metaphase.
Atlas Image
A DAPI-counterstained metaphase after fluorescence in situ hybridization using FITC-labeled whole chromosome painting probe for chromosome 21 from Vysis, USA.
Atlas Image
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.

Bibliography

Pubmed IDLast YearTitleAuthors
68393051983Pentasomy 21 characterizing spontaneously regressing congenital acute leukemia.Van den Berghe H et al
29558851987Nonrandom chromosomal aberrations and clonal chromosomal evolution in acute leukemia associated with Down's syndrome.Wang N et al
21415421990Pentasomy 21q in a neonatal case of acute myeloblastic leukemia.Brothman AR et al
14232301992Pentasomy 21 in leukemia complicating Diamond-Blackfan anemia.Mori PG et al
106327552000The 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
118013142002Pentasomy 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