Multiple Penile and Scrotal Schwannomas in an Adult Patient: A Case Report.

INTRODUCTION: Schwannomas originate from the peripheral nerve sheaths and are mainly detected in the head, neck, or extremities. They are rarely encountered in the penoscrotal region. CASE PRESENTATION: Herein, we present a case of a penoscrotal schwannoma diagnosed and successfully treated in our center. A 40-year-old patient with a history of resection of a dorsal penile schwannoma presented with multiple nodular lesions at the scrotum, penile shaft, and radix, which were first noticed 5 years before his current presentation. He complained about penile pain and dyspareunia. Magnetic resonance imaging was performed for preoperative diagnosis. All nodular lesions were resected while preserving the neurovascular structures. The histopathological examination revealed benign lesions. The patient's complaints were resolved, and there was no recurrence during the 1-year follow-up. CONCLUSION: The primary treatment is surgical excision. The patients need close follow-up regarding the risks of recurrence and malignant transformation.

Malignant Perivascular Epithelioid Cell Tumor (PEComa) of the Uterus as Part of the Hereditary Cancer Syndrome: A Case Diagnosed with Multiple Malignancies.

A perivascular epithelioid cell tumor (PEComa) is an uncommon mesenchymal tumor composed of perivascular epithelioid cells. These tumor cells show variable immunoreactivity for both melanocytic and myogenic markers. Occurrence of PEComa has been reported at various anatomical sites, including the gynecological tract, uterus being the most common. Although most patients have sporadic PEComas, a subset may be associated with the inactivation of TSC1 or TSC2 genes and the occurrence of TFE3 gene fusions. However, a relationship between PEComas and other tumors is rare. We report a 41-year-old female patient with malignant PEComa who was admitted to the hospital with a complaint of vaginal bleeding. Because she had previously been diagnosed with colorectal and breast carcinomas at an early age, we performed a comprehensive genetic analysis to identify molecular alterations present in her background that unveiled multiple malignancy predispositions. Next-generation sequencing (NGS) analysis revealed two heterozygous germline pathogenic variants in the ATM and TP53 genes and a heterozygous variant of unknown significance (VUS) in the BRCA2 gene. The patient was diagnosed with the Li-Fraumeni Syndrome owing to the medical and family history and also the presentation of a pathogenic mutation of the TP53 gene. There are very few case reports in the literature describing PEComa in the Li-Fraumeni syndrome, and this is the first report of a uterine PEComa in a patient with Li-Fraumeni syndrome.

Clinical, cytogenomic, and molecular characterization of isodicentric Y-chromosome and prediction of testicular sperm retrieval outcomes in azoospermic and severe oligozoospermic infertile men.

PURPOSE: Sex chromosome abnormalities are associated with male infertility. The aim of this study was to characterize the clinical, cytogenetic, and molecular findings of 12 infertile men with isodicentric Y-chromosome [idic(Y)] abnormalities diagnosed over a period of 13 years. MATERIALS AND METHODS: Chromosomal analyses of peripheral blood samples were done using standard procedures. Fluorescence in situ hybridization (FISH) analysis was performed on metaphase spreads of the patients. Multiplex polymerase chain reaction (PCR) using several sequence-tagged site (STS) primer sets within the long arm of Y-chromosome was used to detect AZF deletions.The breakpoints and copy number variations (CNV) were identified by array comparative genomic hybridization analysis (aCGH) analysis.The short-stature homeobox (SHOX) gene deletions were verified using multiplex ligation-dependent probe amplification (MLPA) analysis. RESULTS: Twelve infertile men were diagnosed cytogenetically with idic(Y). The karyotypes of two of the patients were non-mosaic, and the remaining karyotypes showed various degrees of mosaicism. SHOX gene deletion was found in two of the four patients with short stature, and the remaining two patients had shown a 45,X dominant cell line (33.3%). The most common breakpoints for idic(Yq) and idic(Yp) were found to be in Yq11.222 and Yp11.32, respectively. Semen analysis of ten patients (83.3%) demonstrated azoospermia, and the remaining two patients (16.7%) showed severe oligoasthenoteratozoospermia (OAT). In total, 33% (4/12) of idic(Y) patients with or without microsurgical testicular sperm extraction (microTESE) had sperm retrieval. CONCLUSIONS: Twelve patients with idic(Y) and different breakpoints of Y-chromosome were characterized using multiple detection strategies. Sperm retrieval outcomes of patients either with idic(Yp) or idic(Yq) showed the possibility to find sperm by microTESE.

Multiscale analysis of SRY-positive 46,XX testicular disorder of sex development: Presentation of nine cases.

46,XX testicular disorder of sex development (46,XX TDSD) is a relatively rare condition characterised by the presence of testicular tissue with 46,XX karyotype. The present study aims to reveal the phenotype to genotype correlation in a series of sex-determining region Y (SRY)-positive 46,XX TDSD cases. We present the clinical findings, hormone profiles and genetic test results of six patients with SRY-positive 46,XX TDSD and give the details and follow-up findings of our three of previously published patients. All patients presented common characteristics such as azoospermia, hypergonadotropic hypogonadism and an SRY gene translocated on the terminal part of the short arm of one of the X chromosomes. Mean ± standard deviation (SD) height of the patients was 164.78 ± 8.0 cm. Five patients had decreased secondary sexual characteristics, and three patients had gynaecomastia with varying degrees. Five of the seven patients revealed a translocation between protein kinase X (PRKX) and inverted protein kinase Y (PRKY) genes, and the remaining two patients showed a translocation between the pseudoautosomal region 1 (PAR1) of X chromosome and the differential region of Y chromosome. X chromosome inactivation (XCI) analysis results demonstrated random and skewed XCI in 5 cases and 1 case, respectively. In brief, we delineate the phenotypic spectrum of patients with SRY-positive 46,XX TDSD and the underlying mechanisms of Xp;Yp translocations.

Genetic Burden and Outcome of Cystic Hygromas Detected Antenatally: Results of 93 Pregnancies from a Single Center in the Northern Region of Turkey.

OBJECTIVE: Genetic burden, fetal malformations, and fetal outcomes of 93 fetuses with cystic hygroma (CH) are reported from a single center in Turkey. PATIENTS AND METHODS: Pregnancies, having a diagnosis of fetal CH, detected between January 2010 and October 2016, were included in the study except fetuses having increased nuchal translucency. Fetal age/gender, maternal age, the age of pregnancy, types of fetal malformations, karyotype, and outcomes were evaluated. RESULTS: The average gestational age was 16.2 weeks. Nearly 47% of the pregnancies had multiple congenital anomalies, of which 58% had a chromosomal anomaly. Chromosomal anomaly rate was 68.2% in patients with hydrops fetalis. Aneuploidies were major chromosomal defects. All trisomies were of regular type except one with Robertsonian translocation (46, XY, +13, rob[13;14][q10;q10]). Seventy-four percentage pregnancies were terminated due to either fetal/karyotype anomaly. CONCLUSION: Characteristics of fetal CH were similar in different ethnical backgrounds. Aneuploidy is the dominant chromosomal constitution of fetal CH. Little information was known about the genes involved. Gene dosage effect implies that fetal CH is a complex genetic situation involving multiple genes interactions. For proper genetic counseling, each fetus with CH should be karyotyped, and fetal ultrasound examination should be performed. In the case of normal chromosome set, application of aCGH should be considered.

Chromosomal and Y-chromosome microdeletion analysis in 1,300 infertile males and the fertility outcome of patients with AZFc microdeletions.

The present study investigated the frequency of chromosome aberrations and AZF microdeletions in infertile patients with nonobstructive azoospermia (NOA) or severe oligozoospermia. Additionally, the effect of the AZFc microdeletions on the success of microdissection testicular sperm extraction (microTESE) and intracytoplasmic sperm injection (ICSI) methods were evaluated. Peripheral blood samples were received from 1,300 infertile men with NOA and severe oligozoospermia. Karyotyping and FISH analysis were performed according to standard methods. AZF microdeletions were analysed using multiplex polymerase chain reaction or GML Y-chromosome Microdeletion Detection System consisting of 14 markers. The chromosomal aberrations and the AZF microdeletions frequency among 1,300 infertile men were 10.6% and 4.0% respectively. Either ejaculated spermatozoa or microTESE was performed on only in 19 out of 26 patients with AZFc deletions. Of the 19 patients, four had severe oligozoospermia and 15 had NOA. In eight out of 15 NOA patients, testicular mature spermatozoa were obtained (53.3%) and then ICSI was applied to mature oocytes. After undergoing ICSI treatment, clinical pregnancy and live birth outcome rates were found to be 37.5% and 25% respectively. These results suggest that infertile patients with AZFc microdeletion could achieve successful fertilisation pregnancies with the help of assisted reproductive technology.

Impact of Fluorescent In Situ Hybridization Aberrations and CLLU1 Expression on the Prognosis of Chronic Lymphocytic Leukemia: Presentation of 156 Patients from Turkey.

OBJECTIVE: This study evaluates the impact of CLLU1 expression and fluorescent in situ hybridization (FISH) analysis of a group of Turkish chronic lymphocytic leukemia (CLL) patients. MATERIALS AND METHODS: A total of 156 CLL patients were analyzed by FISH method; 47 of them were also evaluated for CLLU1 expression. Results were correlated with clinical parameters. RESULTS: FISH aberrations were found in 62% of patients. These aberrations were del13q14 (67%), trisomy 12 (27%), del11q22 (19%), del17p (8%), and 14q32 rearrangements (20%). Overall del11q22 and del17p were associated with the highest mortality rates, shortest overall survival (OS), and highest need for medication. Homozygous del13q14, 14q32 rearrangements, and higher CLLU1 expression correlated with shorter OS. CONCLUSION: Cytogenetics/FISH analysis is still indicated for routine evaluation of CLL. Special consideration is needed for the poor prognostic implications of del11q22, del17p, 14q32 rearrangements, and homozygous del13q14. The impact of CLLU1 expression is not yet clear and it requires more data before becoming routine in genetic testing in CLL patients.

Isolated Transverse Clivus Fracture without Neurodeficit: Case Report and Review of Literature.

BACKGROUND: Clivus is a bony surface in the posterior cranial fossa, serving as the support of the brainstem and thus neighboring important structures because of its location. Skull base fractures that cannot be shown by conventional radiography can be clearly imaged by high-resolution bone window computed tomography. CASE REPORT: A 44 years-old male referred to the emergency department because of a traffic accident in the car. His only complaint was a severe neckache. His X-ray examination showed no pathology. The computed tomographic examination showed no parenchymal pathology, but a isolated transverse fracture in the clivus. CONCLUSIONS: The computed tomographic examination showed isolated transverse fracture in the clivus our case presented in this paper is the first case of transverse clivus fracture without additional cranial bone fracture and neurologic deficit in the literature.

Double-layer appearance after evacuation of a chronic subdural hematoma.

OBJECTIVE: To investigate the reason for and the course of the double-layer appearance in the postoperative computed tomographies (CTs) of chronic subdural hematoma (CSDHs). METHODS: We reviewed CSDH cases that were operated on during the last 3 years, between January 2008 and December 2010. We checked the preoperative, early postoperative, and late postoperative CTs of these patients. We investigated the relationship between the formation of a double-layer appearance and the prognoses and demographic characteristics of the patients. RESULTS: Our database included 119 cases. A double-layer appearance was found in the postoperative CTs of 34 cases. The mean age of double-layer cases was older (72.5 ± 12.1) than that of the remaining 85 cases (63.1 ± 17.8). We did not find any relationship between the double-layer appearance and the reoperation/recurrence/death rates. CONCLUSIONS: The double-layer appearance after evacuation of a CSDH might be caused by enlargement of the subarachnoid space and is not related to the presence of any residual hematoma. This appearance is not considered as a reason for reoperation.

Giant erosive spinal schwannomas: surgical management.

Giant erosive spinal schwannomas can be distinguished from other spinal schwannomas by its growth in myofascial planes and vertebral body erosion. Therapeutic radical tumour excision without neurologic deterioration is possible in the management. Prognosis is good after total tumour removal. In this article, it is aimed to report six patients who were diagnosed as giant erosive spinal schwannomas between 2001 and 2004 according to the criteria of Sridhar et al. Three of the patients were male and three female with the age range of 16-63 (mean age 39.7). Three of the tumours were located in the cervical region, one in the lumbar region, one in the thoracic region and one in the sacral region. Total excision of the tumours was achieved in four patients. However, one additional operation was required in two patients. Follow-up periods ranged from 6 weeks to 7 years (mean follow-up 51 months). Four patients had a good clinical outcome and there were no radiologic signs of instability or recurrence. Our experience and other published literature suggest that giant erosive spinal schwannoma has significant features such as local invasive nature together with vertebral body erosion and large size but benign histology, long duration for clinical presentation, common preoperative misdiagnosis and good prognosis after total excision. These tumours rarely need spinal instrumentation because the disc capsule and ligaments remain intact even if the pedicle and posterior elements are compromised.