OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) for fetuses with choroid plexus cysts (CPC) detected by prenatal ultrasonography. METHODS: Amniotic fluid chromosomal karyotype was analyzed in 104 fetuses with CPC, and copy number variations (CNVs) among the fetuses were detected by using CMA. RESULTS: Ten fetuses (9.62%) were found to have an abnormal karyotype, and 14 additional CNVs were detected in those with a normal karyotype. The fetuses were divided into isolated CPC group (n = 87) and non-isolated CPC group (n = 17) based on the presence of additional ultrasonographic abnormalities. The detection rates for karyotypic abnormalities of the two groups were 4.6% and 35.3%, respectively, whilst those for the CMA were 4.6% and 47.1%, respectively. The detection rates for karyotypic abnormalities and CMA of the non-isolated CPC group were significantly higher than those of the isolated CPC group (P < 0.05). The detection rate for CMA in the non-isolated group was significantly higher than chromosomal karyotype abnormalities (P < 0.05). Among the 8 fetuses with abnormal CMA, 4 had single umbilical artery, 3 had abnormal cardiac structure, and 2 had enhanced intestinal echo. CONCLUSION CPC is closely associated with chromosomal abnormalities. Chromosome karyotype analysis in combination with CMA can effectively detect fetal chromosomal abnormalities and provide a basis for genetic counseling.
Humans ; Female ; Pregnancy ; DNA Copy Number Variations ; Choroid Plexus/diagnostic imaging* ; Microarray Analysis ; Karyotype ; Chromosome Aberrations ; Amniotic Fluid ; Cysts

OBJECTIVETo study the clinicopathologic features and immunophenotype of endolymphatic sac tumor (ELST) and normal endolymphatic sac.

METHODSThe clinical and histologic features were evaluated in 5 cases of ELST. Eight cases of choroid plexus papilloma at cerebellopontine angle and 2 cases of normal endolymphatic sac were used as controls. Immunohistochemical study for vimentin, AE1/AE3, CK8/18, CK5/6, EMA, GFAP, synaptophysin, S-100 protein, CEA, TTF-1, VEGF, D2-40, calponin, calretinin and Ki-67 was carried out.

RESULTSThe age of onset of ELST ranged from 23 to 35 years (median = 24 years). The male-to-female ratio was 2:3. The clinical presentation was tinnitus, otalgia, hearing loss, otorrhagia with effusion and headache. The duration of symptoms ranged from 6 months to 10 years. Local recurrences were noted in 3 cases. Radiologically, the tumors were located at cerebellopontine angle and demonstrated petrous bone destruction. Histologic examination showed that the tumors had a papillary-glandular pattern. The papillae were covered by a single layer of low cuboidal cells. The tumor cells had distinct cell borders and contained eosinophilic to clear cytoplasm. The nuclei were slightly atypical and sometimes apically located. Focal dilated glandular structures with colloid-like material were also identified. The surrounding stroma was vascularized. All of the 5 cases had dural or petrous bone infiltration. Immunohistochemical study showed that all of the 5 cases were positive for AE1/AE3, CK8/18, CK5/6 and VEGF, 4 cases for EMA, 3 cases for calponin (focal), 2 cases for vimentin, 2 cases for S-100 protein, 1 case for GFAP and 1 case for synaptophysin (focal and weak). The Ki-67 index measured less than 1%. The staining for D2-40, calretinin, CEA and TTF-1 was negative. The 2 cases of the normal endolymphatic sac were positive for AE1/AE3 and CK8/18, and negative for CK5/6, EMA, S-100 protein, GFAP and synaptophysin. The 8 cases of choroid plexus papilloma were positive for synaptophysin. Seven cases were also positive for S-100 protein, 2 cases for GFAP and 1 case for D2-40. All of the 8 cases were negative for EMA, CK5/6 and calponin.

CONCLUSIONSELST is a rare slow-growing and potentially malignant tumor with a tendency of bone invasion and local recurrence. Distant metastasis is not observed. It must be distinguished from choroid plexus papilloma occurring at cerebellopontine angle. Correlation with clinical, radiologic and immunohistochemical findings would also be helpful.

Adenocarcinoma ; diagnostic imaging ; metabolism ; pathology ; surgery ; Adult ; Calcium-Binding Proteins ; metabolism ; Cerebellar Neoplasms ; diagnostic imaging ; metabolism ; pathology ; surgery ; Cerebellopontine Angle ; pathology ; Diagnosis, Differential ; Endolymphatic Sac ; pathology ; Female ; Follow-Up Studies ; Humans ; Immunohistochemistry ; Keratin-5 ; metabolism ; Keratin-6 ; metabolism ; Male ; Microfilament Proteins ; metabolism ; Mucin-1 ; metabolism ; Neoplasm Recurrence, Local ; Papilloma, Choroid Plexus ; metabolism ; pathology ; Tomography, X-Ray Computed ; Young Adult