Prognostic factors related to intratumoral hemorrhage in pediatric intracranial germ cell tumors.

BACKGROUND: Certain types of pediatric intracranial germ cell tumors (PIGCTs) are prone to intratumoral hemorrhaging (TH) and associated with poor survival outcome. However, the impact of TH on the functional prognosis of patients with PIGCTs has not been well studied. This study aimed to evaluate the clinical and MR findings in PIGCT patients with TH to identify the factors related to patient survival and functional outcome. METHODS: This study included 17 patients diagnosed with PIGCT and TH between 2002 and 2016 and evaluated TH-associated clinical and MR findings. The modified Rankin scale (mRS) was used to evaluate functional outcome, which was poor when mRS ≧ 3. The volumes of hematomas and tumors were manually tracked within each brain magnetic resonance imaging slice. RESULTS: Among the 17 patients, 6 (35.3%) died and 9 (52.9%) had poor functional outcome. Regarding the functional outcome, the mean hematoma volume to tumor volume ratio (HTVR) was 8.5 ± 3.9% in the favorable outcome group and 42.3 ± 27.8% in the poor outcome group (p = 0.001). For the survival outcome, the mean HTVR was 15.7 ± 16.1% in the living group and 46.0 ± 31.5% in the deceased group (p = 0.016). The cutoff point of the receiver operating characteristics curve for HTVR to predict death and poor functional outcome was 19.27% and 16.8%, respectively. CONCLUSION: Our study demonstrated that patients with larger HTVR had significantly worse functional and survival outcomes than those with smaller HTVR. We suggest that early and aggressive treatment for PIGCTs in patients with large HTVR can improve their long-term prognosis.

Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 18 and associated with a reciprocal translocation involving chromosomes 17 and 18.

OBJECTIVE: Prenatal diagnosis of small supernumerary marker chromosomes (sSMC) gives rise to difficulties in genetic counseling, and requires molecular cytogenetic technologies such as spectral karyotyping, fluorescence in situ hybridization, multicolor-fluorescence in situ hybridization, or array-comparative genomic hybridization to identify the nature of the aberrant chromosome. We report such a case associated with a reciprocal translocation. MATERIALS, METHODS AND RESULTS: A 36-year-old woman, gravida 7, para 1, abortus 5, was referred for amniocentesis at 18 weeks of gestation because of advanced maternal age. Amniocentesis revealed a reciprocal translocation between chromosomes 17q and 18q and an sSMC. The karyotype was 47,XY,t(17;18)(q11.1;q11.2), +mar. Chromosome preparations from blood lymphocytes revealed that she had the same reciprocal translocation and sSMC. Spectral karyotyping showed that the sSMC was derived from the centromeric region of chromosome 18, and there was a reciprocal translocation between chromosomes 17 and 18. The derivative chromosome 17 had positive 17p terminal (17pTEL) and chromosome 17 centromeric (cep17) signals but did not have a positive chromosome 18 centromeric signal (cep18). The derivative chromosome 18 had positive 18p terminal (18pTEL), chromosome 18 centromeric (cep18) and cep17 signals. The sSMC had only a positive cep18 signal. These findings suggested that a breakpoint occurred at 17q11.1 and another at 18q11.2 during translocation, and the sSMC originated from chromosome 18. The karyotype of the fetus was thus 47,XY,t(17;18)(q11.1;q11.2), +mar.ish der(17)t(17;18)(q11.1;q11.2)(17pTEL+,D17Z1+),der(18)t(17;18)(q11.1;q11.2)(18pTEL+,D18Z1+,D17Z1+), + der(18)(D18Z1+). Oligonucleotide-based array comparative genomic hybridization demonstrated no gain or loss of the gene dosage on chromosomes 17 and 18. CONCLUSION: Our case adds to the reported cases of sSMCs derived from the centromeric region of chromosome 18 without phenotypic consequences.