Browsing by Author "Djuricic, S. (6603108728)"

Purpose: This is a review of our 18-year experience with premenarchal girls with epithelial ovarian tumors. Special attention was focused on the predictive value of CA125 serum levels. Methods: Analysis of premenarchal patients with resected or biopsied ovarian masses from 1988 to 2005 was performed. Patient age, clinical presentation, operative procedures, histologic type of tumor, treatment and outcome were obtained. Results: Six premenarchal girls (aged from 6 to 14 years) were surgically treated for epithelial tumors, representing 13% of all ovarian tumors at this age. Histological findings revealed cystadenoma in four girls, one with a mucinous borderline tumor and one with undifferentiated carcinoma. Tumor volume was higher than 400 cm3 in four girls. Sensitivity, specificity and positive predictive value of CA125 level for ovarian malignant epithelial tumors were 0.50, 0.50, and 0.33, respectively. The premenarchal girl with undifferentiated carcinoma in Stage III died after six months in spite of chemotherapy. Conclusion: Ovarian epithelial tumors in premenarchal girls show important growth potential and a relatively high malignancy rate with great influence of borderline neoplasms. CA125 is a tumor marker with low sensitivity and specificity for detection of epithelial ovarian malignancy in this age group.

Purpose: To determine whether the presence of normal ovarian tissue could assist in the diagnosis of large benign ovarian neoplasms in young females and in choosing the laparoscopic treatment. Materials and Methods: A prospective study of 25 patients treated surgically for a cystic ovarian neoplasm measuring diameter more than ten cm or volume more than 500 ml and having normal ovarian tissue or ovarian crescent sign (OCS). Ultrasonography was performed at six weeks, then at three, six, nine, and 12 months postoperatively. Results: The mean age of patients was 15.3 ± 3.6 years, ranging between 6.5 and 19 years. The mean preoperative volume of the ovarian neoplasm was 1,686 ± 1,380 cm3, ranging between 550 and 6,000 cm3. The presence of OCS was visualized by ultrasonography in all 25 patients and serum tumor markers were negative in 22. No borderline tumors or malignancies were identified. There was a statistically significant difference between the volume of the affected ovary and the contralateral ovary during the first six weeks follow-up, but without significant difference after three months. Conclusions: Postoperative ultrasound revealed that the affected ovary resumed its normal volume within three months after surgery, despite the thinned appearance of the ovarian cortex present on ultrasound as the OCS. Laparoscopic ovarian preservation should be the preferred surgical approach for adolescents to ensure the conservation of the entire ovarian tissue.

Otopalatodigital spectrum disorder (OPDSD) is rare group of X-linked disorders caused by mutations in the filamin A (FLNA) gene. It is characterized by skeletal dysplasia of variable severity and different extra skeletal manifestations. Its presentation in the fetal period is quite unspecific, so diagnosis is usually made after birth. We present prenatal ultrasonography and postmortem findings that led us to a diagnosis of the mildest form of OPDSD (OPD type I) in two consecutive pregnancies. This is the first report on prenatal diagnosis (PND) of OPD type I. Affected fetuses showed facial dysmorphy (hypertelorism, micrognathia, cleft palate) and digital anomalies, features typical of OPD type I. In addition, microphtalmia and early neonatal death due to severe respiratory distress syndrome are described as a novel characteristics of the disorder. Clinical exome sequencing revealed a hemizygous missense pathogenic variant in the FLNA gene (NM-001110556.1: c.620C>T). We suggest that the presence of hypertelorism, micrognathia, digital anomalies on prenatal ultrasound examination should alert suspicion to OPDSD. Detailed clinical examination of mother and other female relatives is of great importance in establishing definitive diagnosis of OPD type I. © 2019 Joksic I, Cuturilo G, Jurisic A, Djuricic S, Peterlin B, Mijovic M, Karadzov Orlic N, Egic A, Milovanovic Z, published by Sciendo.

Otopalatodigital spectrum disorder (OPDSD) is rare group of X-linked disorders caused by mutations in the filamin A (FLNA) gene. It is characterized by skeletal dysplasia of variable severity and different extra skeletal manifestations. Its presentation in the fetal period is quite unspecific, so diagnosis is usually made after birth. We present prenatal ultrasonography and postmortem findings that led us to a diagnosis of the mildest form of OPDSD (OPD type I) in two consecutive pregnancies. This is the first report on prenatal diagnosis (PND) of OPD type I. Affected fetuses showed facial dysmorphy (hypertelorism, micrognathia, cleft palate) and digital anomalies, features typical of OPD type I. In addition, microphtalmia and early neonatal death due to severe respiratory distress syndrome are described as a novel characteristics of the disorder. Clinical exome sequencing revealed a hemizygous missense pathogenic variant in the FLNA gene (NM-001110556.1: c.620C>T). We suggest that the presence of hypertelorism, micrognathia, digital anomalies on prenatal ultrasound examination should alert suspicion to OPDSD. Detailed clinical examination of mother and other female relatives is of great importance in establishing definitive diagnosis of OPD type I. © 2019 Joksic I, Cuturilo G, Jurisic A, Djuricic S, Peterlin B, Mijovic M, Karadzov Orlic N, Egic A, Milovanovic Z, published by Sciendo.

The authors present a case of a 14-year-old premenarchal girl with a large solid tumor of the left ovary. The rim of normal ovarian tissue was visible around the tumor on ultrasonography scan. Although the levels of two tumor markers, LDH and CA125, were elevated, the authors performed an organ-sparing tumorectomy. The final pathology report revealed foci of immature neural tissue, with a final diagnosis immature teratoma Stage Ia.

Purpose: To determine survivin expression patterns in Wilms tumor (WT) and compare it with the expression in normal renal tissue. Also, to analyse cytoplasmic and nuclear survivin expression in relation to histological type, prognostic group and tumor stage. Methods: Immunohistochemical expression of survivin was analysed in 59 cases of primary WT and in 10 normal kidney specimens, taken from the same patients, but distant from the tumor. Results: 51 out of 59 cases of WT (86.44%) showed decreased cytoplasmic survivin expression and 4 out of 59 cases of WT (6.78%) showed nuclear overexpression of survivin. There was statistically significant difference in the frequency of decreased cytoplasmic expression of survivin in individual components of WT (p=0.005). Decreased cytoplasmic expression of survivin in epithelial, blastemal and stromal component was found significantly more often in low stage WT compared to high stage WT (Fisher exact test, p=0.0002, p=0.002, p=0.002, respectively). There was no statistically significant difference in the frequency of survivin nuclear overexpression between different stages of WT (Fisher exact test, p=0.564), histological types (Fisher exact test, p=0.915), or between different prognostic groups (Fisher exact test, p=1). Conclusion: Decreased survivin cytoplasmic expression or nuclear overexpression may be related to favorable prognosis of WT. © 2012 Zerbinis Medical Publications.

Purpose: To determine survivin expression patterns in Wilms tumor (WT) and compare it with the expression in normal renal tissue. Also, to analyse cytoplasmic and nuclear survivin expression in relation to histological type, prognostic group and tumor stage. Methods: Immunohistochemical expression of survivin was analysed in 59 cases of primary WT and in 10 normal kidney specimens, taken from the same patients, but distant from the tumor. Results: 51 out of 59 cases of WT (86.44%) showed decreased cytoplasmic survivin expression and 4 out of 59 cases of WT (6.78%) showed nuclear overexpression of survivin. There was statistically significant difference in the frequency of decreased cytoplasmic expression of survivin in individual components of WT (p=0.005). Decreased cytoplasmic expression of survivin in epithelial, blastemal and stromal component was found significantly more often in low stage WT compared to high stage WT (Fisher exact test, p=0.0002, p=0.002, p=0.002, respectively). There was no statistically significant difference in the frequency of survivin nuclear overexpression between different stages of WT (Fisher exact test, p=0.564), histological types (Fisher exact test, p=0.915), or between different prognostic groups (Fisher exact test, p=1). Conclusion: Decreased survivin cytoplasmic expression or nuclear overexpression may be related to favorable prognosis of WT. © 2012 Zerbinis Medical Publications.