Cytogenetic study of 50 Brazilian patients with primary myelodysplastic syndrome

Fernandez, Teresa de Souza; Silva, Maria Luiza M.; Souza, Jamison M. de; Tabak, Daniel; Abdelhay, Eliana

doi:10.1590/S0100-84551997000100016

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Brasil

Brazilian Journal of Genetics

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Brasil

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• Braz. J. Genet. 20 (1) • Mar 1997 • https://doi.org/10.1590/S0100-84551997000100016 copy

Cytogenetic study of 50 Brazilian patients with primary myelodysplastic syndrome

In this work we analyzed cytogenetically 50 patients with primary myelodysplastic syndrome from several hospitals of Rio de Janeiro, Brazil. The frequency of cytogenetic abnormalities was 32%. Patients with refractory anemia, or refractory anemia with ringed sideroblasts, presented normal karyotypes or single abnormalities such as del(5q) or -Y, while patients with refractory anemia with an excess of blasts, refractory anemia with an excess of blasts in transformation or chronic myelomonocytic leukemia showed complex karyotypes and single abnormalities involving chromosomes 7 or 8, which are related to a bad prognosis and an elevated risk of evolution to acute myeloid leukemia.

Sociedade Brasileira de Genética Rua Capitão Adelmio Norberto da Silva, 736, 14025-670 Ribeirão Preto SP - Brazil, Tel. / Fax: +55 16 621.8540, 620.1251, 620.1253 - Ribeirão Preto - SP - Brazil
E-mail: sede@sgb.org.br

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N	FAB	Age/sex	Number of mitosesanalyzed (normal/ abnormal)	Karyotypes	Evolution to AML	Status
1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35a 35b 36 37a 37b 38 39 40 41 42 43 44 45 46 47 48 49 50	RA RA RA RA RA RA RA RA RA RA RA RA RA RA RA RA RA RA RA RA RA RA RA RA RA RA RA RA RARS RARS RARS RARS RAEB RAEB RAEB AML RAEB RAEB AML RAEB RAEB RAEB RAEB RAEB RAEB-t RAEB-t RAEB-t RAEB-t CMML CMML CMML CMML	40/F 53/M 5/M 8/M 41/F 62/F 64/M 16/M 88/M 73/M 59/F 52/M 57/M 84/F 38/F 56/F 77/F 11/F 18m/F 73/F 7/F 8/F 40/F 57/F 40/F 25/M 30/F 44/M 59/F 83/F 65/M 30/M 35/M 56/M 12/M 12/M 59/M 60/M 60/M 84/F 85/M 61/M 66/M 19/M 64/M 52/F 76/F 21m/M 73/M 10m/M 82/M 71/M	31/0 42/0 35/0 33/0 38/0 29/0 32/0 41/0 37/0 0/53 35/0 31/0 37/0 49/4 38/0 46/4 35/0 50/0 40/0 51/10 30/0 32/0 25/0 39/0 40/3 33/0 41/0 47/0 46/0 33/0 52/0 30/0 0/40 22/0 35/0 26/38/4 28/0 23/32 2/15/8/3 19/26 22/15 22/0 15/15 21/30 10/27 4/32 9/18/3 8/14 67/0 31/0 21/0 41/5	46,XX 46,XY 46,XY 46,XY 46,XX 46,XX 46,XY 46,XY 46,XY 45,X,-Y 46,XX 46,XY 46,XY 46,XX/46,XX,del(5)(q31) 46,XX 46,XX/46,XX,del(5)(q13q33) 46,XX 46,XX 46,XX 46,XX/46,XX,del(5)(q13q33) 46,XX 46,XX 46,XX 46,XX 46,XX/46,XX,del(5)(q13q33) 46,XY 46,XX 46,XY 46,XX 46,XX 46,XY 46,XY 44,XY,del(5)(q15), -7, -13, -18,+mar 46,XY 46,XY 46,XY/90,XXYY/45,XY, -21 46,XY 46,XY/47,XY,+8 46,XY/47,XY,+8/ 47,XY,dup(1)(q21q32), +8/47,XY,+der 8, t(1;8)(q21;p12) 46,XX/46,XX,del(20)(q12) 46,XY/45,XY,-7 46,XY 46,XY/46,XY, dup(1)(q12) 46,XY/47,XY,+8 46,XY/46,XY,del(5)(q15) 46,XX/45,XX,-7 46,XX/47,XX,+8/ 47,XX,del(5)(q31),+8 46,XY/45,XY, -7 46,XY 46,XY 46,XY 46,XY/46,XY,-8,+20	No No No No No No No No No No No No No No No No No No No No No No No No No No No No No No No No Yes No Yes AML No Yes AML No Yes No Yes Yes Yes Yes Yes Yes No No No No	alive alive alive alive alive dead dead alive alive alive alive alive alive dead alive alive alive alive alive alive alive alive alive alive alive alive alive alive alive dead alive alive dead alive alive dead alive alive dead dead dead alive alive dead dead dead dead dead dead alive dead

Diagnosis	Total cases analyzed	Cases with abnormal karyotype
RA RARS RAEB RAEB-t CMML Total	28 4 10 4 4 50	5 0 6 4 1 16