New cytogenetic aberrations found in a case of  aggressive retinoblastoma.
We describe a case of retinoblastoma with an atypical  presentation and previously unreported cytogenetic aberrations. A 19-month-old  girl with left intraocular retinoblastoma was treated with enucleation and  chemotherapy. The disease showed aggressive evolution within a short period  between diagnosis and relapse. Eight months after diagnosis, a new large tumor  was present in the orbit of the right eye, with diffuse bone pain, pancytopenia  and diffuse infiltration into the bone marrow and the central nervous system.  The child did not respond to treatment and died. Cytogenetic studies made with  G-banding, FISH and SKY analysis showed chromosomal aberrations commonly  associated with retinoblastoma, including del(13q), i(6p), +1, and monosomy 16,  along with others that had not been reported previously, including dup(5q),  dic(15;22) and add(14q). The new chromosomal aberrations may be related to the  aggressiveness of the disease in this case.
Centro de Oncohematologia Pediátrica, Hospital Universitário Oswaldo Cruz, Universidade de Pernambuco, Recife, PE, Brasil. jemimaeline@gmail.com
J E X S
JE
Barros
E M
EM
Soares-Ventura
N
N
Santos
B A S
BA
Amaral
F M
FM
Oliveira
R S
RS
Vera Cruz
V L L
VL
Morais
T J
TJ
Marques-Salles
M T C
MT
Muniz
D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D007223:Infant; D012175:Retinoblastoma / Q000235:genetics* / Q000473:pathology*