OBJECTIVE: It has previously been suggested that embryos developing from intracytoplasmic sperm-injected (ICSI) zygotes with three pronuclei (3PN) are endowed with a mechanism for self-correction of triploidy to diploidy. 3PN are also observed in zygotes after conventional in vitro fertilization (IVF). The parental origin, however, differs between the two fertilization methods. Whereas the vast majority of 3PN IVF zygotes are of dispermic origin and thus more likely to have two centrioles, the 3PN ICSI zygotes are digynic in origin and therefore, more likely to have one centriole. In the present study, we examine whether the parental origin of 3PN embryos correlates with the karyotype. METHODS: The karyotype of each nucleus was estimated using four sequential fluorescence in situ hybridizations-each with two probes-resulting in quantitative information of 8 different chromosomes. The karyotypes were then compared and correlated to the parental origin. RESULTS: 3PN ICSI embryos displayed a significantly larger and more coordinated reduction from the assumed initial 3 sets of chromosomes than 3PN IVF embryos. CONCLUSION: The differences in the parental origin-and hence the number of centrioles-between the 3PN IVF and the 3PN ICSI zygotes are likely to be the cause of the differences in karyotypes.
Centrioles ; Diploidy ; Embryonic Structures* ; Fertilization ; Fertilization in Vitro ; Fluorescence ; Humans ; Karyotype* ; Parents* ; Ploidies ; Sperm Injections, Intracytoplasmic ; Triploidy ; Zygote*

OBJECTIVETo study the clinicopathologic features of malignant phyllodes tumors (PT) by histopathologic analyses, immunohistochemical profiling and DNA content assay, and evaluation of the clinical outcome.

METHODSTen patients with malignant PT from 1999 to 2013 who were treated by surgery were enrolled in this study. The morphologic characteristics were studied under light microscope, standard two-step EnVision method of immunohistochemical staining was used to assess the expression of CK5/6, CKpan, 34β E12, desmin, p63, ER-α, PR, Ki-67, CD34, SMA, p53, p16, bcl-2 and CD117 in the tumors. The corresponding paraffin blocks were also used for flow cytometric DNA content assay. These data were correlated with the follow-up results.

RESULTSThe median age of onset was 46.5 years old. The mean tumor size was 7.4 cm (2.0-25.0 cm). At the end of the follow-up period (22 to 125 months), there were tumor recurrences in 3/8 patients and the median time of recurrence was 24 months. Metastasis occurred in 3/8 patients who all died of the tumors. PT had heterogeneous histology, with stromal overgrowth with leaf-like projections, periductal stromal overgrowth, and most commonly, diffuse stromal overgrowth with sarcomatous differentiation. The mean positive index of Ki-67 was 11.4%. The stromal tumor cells were positive for CD34, SMA, p53, p16, and bcl-2 in 3/10, 9/10, 6/10, 8/10, and 4/10 cases, respectively. CD117,ER-α and PR were negative. Interpretable DNA histograms were obtained in nine cases with triploidy in two cases.

CONCLUSIONSThe diagnosis of malignant PT should be considered based on the diversity of growth patterns and heterogeneous histology.Ki-67 and CD34 are valuable diagnostic and prognostic factors in patients with malignant PT. Tumors with diffuse stromal overgrowth, heterologous elements, Ki-67 ≥ 20% or aneuploidy are more likely to metastasize.

Adult ; Aged ; Antigens, CD34 ; metabolism ; Bone Neoplasms ; secondary ; Breast Neoplasms ; genetics ; metabolism ; pathology ; surgery ; therapy ; Chemoradiotherapy, Adjuvant ; Diploidy ; Female ; Follow-Up Studies ; Humans ; Immunohistochemistry ; Ki-67 Antigen ; metabolism ; Lung Neoplasms ; secondary ; Mastectomy ; methods ; Middle Aged ; Neoplasm Recurrence, Local ; Phyllodes Tumor ; genetics ; metabolism ; pathology ; secondary ; surgery ; therapy ; Triploidy

Numerical and structural chromosomal abnormalities are common in hematological malignancies. Near-triploidy (58-80 chromosomes) is a numerical abnormality observed in 3% of adult cases of acute lymphoblastic leukemia. Near-triploidy is rare in myeloid lineage hematologic malignancies and compared to near-triploidy in lymphoid malignancies, near-triploidy in myeloid malignancies is associated with poor outcomes. Few studies on near-triploidy in myelodysplastic syndrome (MDS) have been reported, and the clinicopathologic significance of this condition is still unclear. Here, we report a novel case of MDS with near-triploidy and multiple structural chromosomal abnormalities: del(5q) combined with del(1p) and del(13q). These abnormalities were detected by cytogenetic analysis with array comparative genomic hybridization (CGH). Our results suggest that array CGH can be a useful tool for detecting chromosomal abnormalities in patients with MDS.
Aged ; Bone Marrow Cells/pathology ; *Chromosome Deletion ; Comparative Genomic Hybridization ; Humans ; Karyotyping ; Male ; Myelodysplastic Syndromes/*genetics ; Triploidy

DNA, Neoplasm ; analysis ; Female ; Flow Cytometry ; Humans ; Hydatidiform Mole ; diagnosis ; genetics ; In Situ Hybridization, Fluorescence ; Microsatellite Repeats ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Pregnancy ; Triploidy ; Uterine Neoplasms ; diagnosis ; genetics

OBJECTIVETo study the value of combined use of paternally imprinted gene product p57(KIP2) immunohistochemistry and flow cytometry in the differential diagnosis of placental hydropic diseases.

METHODSA total of 32 cases of hydropic placenta with DNA polymorphism information were collected, and the genetic results were used as basis for the diagnosis of complete hydatidiform moles (CHM), partial hydatidiform moles (PHM) or hydropic abortions. All cases were examined by histology, p57(KIP2) immunohistochemical staining (EnVision method) and flow cytometry DNA ploidy analysis. The p57(KIP2) immunohistochemical staining and DNA ploidy results were compared with the genetic results.

RESULTSIn CHM, p57(KIP2) negative rates were 95.2% (20/21), whereas all the 11 cases of non-CHM (7 cases PHM and 4 cases hydropic abortions) were positive (11/11). In 11 p57(KIP2) -positive cases, 7 cases with triploidy and 4 cases with diploidy by flow cytometry were proven to be PHM and hydropic abortions by genetic analysis, respectively. Overall, 96.9% (31/32) cases of hydropic placentas were correctly diagnosed by combined use of p57(KIP2) immunohistochemistry and flow cytometry.

CONCLUSIONSp57(KIP2) immunohistochemical negativity is a reliable index for the diagnosis of CHM. Combined flow cytometry DNA ploidy and p57(KIP2) immunohistochemistry are useful in the pathological differentiation of CHM, PHM and hydropic abortions.

Abortion, Spontaneous ; diagnosis ; genetics ; metabolism ; Adult ; Cyclin-Dependent Kinase Inhibitor p57 ; metabolism ; DNA, Neoplasm ; analysis ; Diagnosis, Differential ; Diploidy ; Female ; Flow Cytometry ; Humans ; Hydatidiform Mole ; diagnosis ; genetics ; metabolism ; Immunohistochemistry ; Middle Aged ; Pregnancy ; Triploidy ; Uterine Neoplasms ; diagnosis ; genetics ; metabolism ; Young Adult

We present an unusual case in which a patient was diagnosed with the preeclampsia associated with a partial hydatidiform mole and bilateral theca-lutein cysts. The patient newly developed proteinuric hypertension at 16 weeks' gestation. Ultrasound findings showed small multiple cystic spaces in the placenta and a live singleton fetus. Triploid 69, XXX was confirmed at karyotype analysis. Intrauterine fetal death was found at 18 weeks' gestation and termination of pregnancy was performed, and a partial hydatidiform mole was confirmed at pathologic examination. Torsion of bilateral theca-lutein cysts was developed at postpartum one week. Detorsion and aspiration of the bilateral theca-lutein cysts were performed under the laparoscopy.
Female ; Fetal Death ; Fetus ; Humans ; Hydatidiform Mole ; Hypertension ; Karyotype ; Laparoscopy ; Placenta ; Postpartum Period ; Pre-Eclampsia ; Pregnancy ; Triploidy

OBJECT: To analyze the frequency and the types of chromosomal abnormalities in conceptus of spontaneous abortion method: 81 cases of products of conception aborted spontaneously were collected From Nov. 1999 to May, 2004 in the cytogenetic laboratory at Kangnam St. Mary's Hospital, Catholic University Medical College. The cytogenetic results,along with clinical information including gestational age at the time of the miscarriage and maternal age, were compiled in a database. RESULTS: Cytogenetic results were obtained from 76 cases (93.8%), of which 33 cases (43.4%) showed chromosome abnormalities. Of 33 chromosomal abnormalities, 12 cases (36.4%) showed monosomy X, including one case of 46,X,+7 and the other case of 44,X, t(13q14q). Autosomal trisomy was also detected in 12 cases (36.4%). The most frequent autosomal trisomy was that of chromosome 18 (4 cases), which occurred exclusively in old maternal age (37.8+/-7.5 years old). Mosaicism was found in 2 cases. Triploidy was identified in 4 cases. Structural abnormalities were identified in 3 cases. CONCLUSION: This study showed that monosomy X and trisomy were the most common chromosomal abnormalities in spontaneous abortion, and autosomal trisomy was dependant on maternal age.
Abortion, Spontaneous* ; Chromosome Aberrations ; Chromosomes, Human, Pair 18 ; Cytogenetic Analysis* ; Cytogenetics* ; Female ; Fertilization ; Gestational Age ; Humans ; Maternal Age ; Mosaicism ; Pregnancy ; Triploidy ; Trisomy ; Turner Syndrome

Holoprosencephaly of unknown definite causes, has been associated with several chromosome abnormalities involving the autosomes and the sex chromosomes. The most commonly reported associations include dup(3p), del(7q), deletions of chromosome 13, trisomy 13, trisomy 18, and triploidy. In previously reported cases in Korea, none were associated with chromosome 21 anomalies. In conclusion, we reported the first case of holoprosencephaly(semilobar type) associated with pure monosomy 21. We experienced a semilobar type holoprosencephaly with monosomy 21 in a neonate who had multiple congenital anomalies, including an abnormal face, a small thorax with widely spaced hypoplastic nipples and nail hypoplasia, lung hypoplasia with severe scoliosis and cardiac abnormalities. Chromosomal analysis revealed a 45, XY, -21.
Chromosome Aberrations ; Chromosomes, Human, Pair 13 ; Chromosomes, Human, Pair 21 ; Holoprosencephaly ; Humans ; Infant, Newborn ; Korea ; Lung ; Monosomy ; Nipples ; Scoliosis ; Sex Chromosomes ; Thorax ; Triploidy ; Trisomy

In addition to age, white cell count and immunophenotype, karyotype has been reported to be one of the important prognostic factors in acute lymphocytic leukemias.Furthermore 70 percent of patients with acute B lymphocytic leukemia presented chromosomal abnormalities, which is known to have a close relationship with the prognosis. Among the abnormalities, triploid is rare and known to have the worse prognosis. Structural chromosomal abnormality of the 11q23 band is more common in childhood acute lymphocytic leukemia and has been rarely reported in adult lymphocytic leukemia. We present a case of a 29 year - old male patient with acute lymphocytic leukemia, who had triploid and chromosomal translocation including 11q23 band along with the review of related literature.
Adult* ; Cell Count ; Chromosome Aberrations ; Chromosomes, Human, Pair 11 ; Humans ; Karyotype ; Leukemia, B-Cell ; Leukemia, Lymphoid ; Male ; Precursor Cell Lymphoblastic Leukemia-Lymphoma* ; Prognosis ; Translocation, Genetic ; Triploidy

To evaluate the significance of placental histology, a collaborative histological and cytogenetic study was performed on the products of 88 spontaneous abortions, and subsequently bcl-2 immunostaining was performed on 62 cases. The morphometric parameters included were DCIRCLE, FORMSHAPE, CPRATIO, and the expression of bcl-2 immunostainig was graded in four categories (I to IV). The results were as follows: 1) 40% (n=35) were chromosomally abnormal: trisomies predominated (57%, n=20) and was followed by triploidy (14%, n=5), double trisomy (6%, n=2), monosomy X (6%, n=2), inversion (9) (6%, n=2). 2) mean of DCIRCLE in chromosomally abnormal pregnancy was 40 micrometer larger than that in chromosomally normal pregnancy (p=0.012, one side t-test), while no difference was found in FORMSHAPE and CPRATIO between chromosomally abnormal and normal pregnancy. 3) bcl-2 expression was found in syncytiotrophoblast and cytotrophoblast. bcl-2 expression was weaker in chromosomally abnormal pregnancy with intensity I and II of 59% than chromosomally normal pregnancy with intensity I and II of 24%. 4) In comparison bcl-2 expression with DCIRCLE, in chromosomally normal abortion one (10%) in I & II and one (3%) in III & IV showed large DCIRCLE (above 360 micrometer), while 11 (85%) in I & II and 3 (33%) in III & IV in chromosomally abnormal pregnancy. It would mean that bcl-2 protein is necessary in preservation of pregnancy and placental morphology. Abnormal villous diameter and weak bcl-2 expression may be suggestive of chromosomal anomaly. Besides other histologic parameters, application of bcl-2 immunostaining and morphometric analysis probably give more sensitive and specific results in identifying chromosomally abnormal abortion.
Abortion, Spontaneous ; Cytogenetics ; Female ; Humans ; Placenta* ; Pregnancy* ; Triploidy ; Trisomy ; Trophoblasts ; Turner Syndrome