RESUMO
We describe a 17-year-old patient with a documented history of Crohn's disease (CD) and of minimal-change nephrotic syndrome (MCNS) in whom a diagnosis of T-cell acute lymphoblastic leukemia (ALL) was made. The diagnosis of ALL was established by morphological examination of bone-marrow aspirates and confirmed by means of immunophenotypic analysis showing the involvement of T-cell lineage leukemic cells. The lymphoid clone showed a karyotypic abnormality involving the long arm of chromosome 5 in a translocation (5;6). Few cases of CD complicated by ALL have been previously reported. The present one is the first case combining CD and ALL in a patient with a past history of MCNS. This raises the possibility of a relationship among those diseases. The possible mechanisms for such a relationship are discussed here.
Assuntos
Doença de Crohn/complicações , Doença de Crohn/genética , Leucemia-Linfoma de Células T do Adulto/complicações , Leucemia-Linfoma de Células T do Adulto/genética , Nefrose Lipoide/complicações , Nefrose Lipoide/genética , Adolescente , Aberrações Cromossômicas , Bandeamento Cromossômico , Cromossomos Humanos Par 5 , Humanos , Imunofenotipagem , Cariotipagem , MasculinoRESUMO
A 46,XX,r(17) karyotype was observed in a 9-year-old infant with short stature, moderate mental retardation but without other physical abnormality. Eight cases with an r(17) have since been reported: 4 can be compared with our patient, one was detected by amniocentesis, and 3 have Miller-Dieker syndrome. Submicroscopic deletions in the subband p13.3 are probably the cause of Miller-Dieker syndrome. They are present in some cases of r(17) but, in others, this short arm region is entirely preserved.
