1/21. The utility of ancillary studies in pediatric FNA cytology.We evaluated the diagnostic contribution of adjunct studies performed on aspirated material in the work-up of pediatric fine-needle aspiration (FNA) biopsies. Ancillary studies were performed on 54 of 136 (39.7%) pediatric FNA biopsies during a 5-year period. In 23 (16.9%) cases, immunocytochemical (ICC) studies, consisting of immunoperoxidase staining of direct smears and/or cell blocks or flow cytometric immunophenotyping, were performed. The studies were adequate in 14 cases (60.9%), suboptimal in five cases (21.7%), and inadequate in four cases (17.4%). Of the adequate and suboptimal cases, the ICC data helped to narrow the differential diagnosis or classify the disease process in eight cases (42.1%), confirmed cytologic impression in nine cases (47.4%), and gave contradictory results in two cases (10.5%). Adequate material for electron microscopy (EM) was obtained in 14/19 cases (73.7%). Ultrastructural studies were diagnostic, or helped classify the disease process in five cases (35.7%), confirmed the cytologic impression in four cases (28.6%), helped exclude diagnostic considerations in three cases (21.4%), and were judged to be non-contributory in two cases (14.3%). Cytogenetic studies revealed six of seven cases (all neoplasms) to have abnormal karyotypes. Special stains for organisms performed on smears from 25 cases including Ziehl-Neelsen, Gomori methenamine silver (GMS), Gram, and Warthin-Starry (WS) were negative except for 1/16 GMS and 4/9 Gram stains. In summary, we found that with appropriate case selection, ancillary studies performed on aspirated material can provide useful information in pediatric FNA cytology.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/21. Mixed germ cell-sex cord stromal tumor with heterologous structures.A mixed germ cell-sex cord stromal tumor developed in the right ovary of a 4-year-old girl. The patient's cells contained sex chromatin and the karyotype was 46,XX. Clinically, she exhibited mild isosexual pseudopuberty. Some of the tumor cells showed differentiation to sertoli cells, whereas others had characteristics of germ cells. The neoplasm was composed of solid cords consisting of a mixture of the two tumor cell types and surrounded by a delicate connective-tissue network. In one small area, the tumor contained heterologous development in the form of glands and cysts lined by columnar mucinous epithelium containing numerous goblet cells and occasional argyrophilic neuroendocrine cells. Normal ovarian tissue was present at the periphery of the tumor. Electron microscopic study confirmed the presence of both Sertoli-like and germ cell-type cells. Immunohistochemical studies demonstrated vimentin positivity in both cell types (with preference for the Sertoli-like cells) and cytokeratin positivity in the Sertoli-like cells. The patient was symptom free 4 years after right oophorectomy, radiotherapy, and chemotherapy.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
3/21. Myelodysplastic syndrome (RARS) with i(12p) abnormality in a patient 10 months after diagnosis and successful treatment of a mediastinal germ cell tumor (MGCT).We report on a 21-year-old man with a mediastinal germ cell tumor (MGCT) who developed a myelodysplastic syndrome (MDS) (refractory anemia with ringed sideroblasts, RARS) 10 months after the start of successful treatment with cisplatin, etoposide, ifosfamide, and paclitaxel. A very rare early occurrence of a therapy-related MDS was suspected. cytogenetic analysis of the bone marrow revealed an aberrant karyotype, showing a deletion in 12p, an isochromosome 5p, as well as gain of an isochromosome 12p. Isochromosome 12p is a specific aberration frequently observed in MGCT. It also was described in patients who developed hematological transformation of a mediastinal germ cell tumor. In this report the association between mediastinal germ cell tumors and hematological malignancies including the possibility of a common genetic origin is discussed.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
4/21. trisomy 14pter --> q21: a case with associated ovarian germ cell tumor and review of the literature.We report a patient with trisomy X and a supernumerary marker chromosome. The marker chromosome was characterized by comparative genomic hybridization and shown to be derived from chromosome 14, resulting in trisomy for 14pter --> q21. The karyotype was thus redefined as 48,XXX, mar.rev ish enh(14pterq21). The patient presented with facial dysmorphism and a high-pitched cry, exhibited severe developmental delay, and developed an aggressive ovarian immature teratoma. In this paper, we also review reports of 11 other patients with constitutional trisomy of the same chromosomal region. Previous studies have identified somatic gains of chromosome 14 in ovarian germ cell tumors. We propose that the constitutional gain of chromosomal 14 material may have predisposed to the development of this tumor.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
5/21. klinefelter syndrome and mediastinal germ cell tumors.Precocious puberty is not a typical manifestation of patients with klinefelter syndrome (KS). However, there is an increased incidence of mediastinal germ cell tumors (M-GCT) in KS, whereas the discussion of a generally higher tumor risk in this condition is still controversial. A rare subgroup of KS patients consists of prepubertal children with precocious puberty due to human chorionic gonadotropin (hCG)-producing M-GCTs. We present clinical data on a boy with KS and sexual precocity, and summarize the published data on 12 boys with KS out of 54 cases of KS and M-GCT. Clinical report: an 8.5-year-old boy presented with signs of precocious puberty. Laboratory analyses (suppressed gonadotropins, elevated testosterone) and thoracic CT demonstrated a beta-human chorionic gonadotropin (beta-hCG) and alpha(1)-feto protein (alpha-FP) secreting mediastinal tumor. Histological analysis showed a mixed germ cell tumor comprising choriocarcinoma (CH), embryonal carcinoma (EC), mature teratoma (MT), and yolk sac tumor (YS). He was successfully treated by surgery and adjuvant chemotherapy. Epianalysis of published cases: all KS patients (n = 12), age 4-9 years, presented with precocious sexual development (PP), whereas the older ones showed thorax-associated symptoms, mainly chest pain, dyspnea, and cough. The histological distribution was also age-dependent with mixed germ cell tumors predominantly in younger patients. Thus, M-GCTs are strongly associated with precocious puberty in young boys with KS. Therefore, a karyotype analysis should be included in the clinical work-up of boys with precocious puberty and M-GCT. There is still no convincing explanation for the association of M-GCTs and KS.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
6/21. Associated leukemia and mixed germ cell tumor in a patient with gonadal dysgenesis.A 16-year-old phenotypic female developed acute myeloblastic leukemia with a fulminant course very shortly after surgery and chemotherapy for a mixed germ cell tumor of the ovary. The karyotype (46, XY, 47, XY 8) suggested de novo rather than therapy-associated leukemia. The relationship between germ cell tumors and leukemia, their common yolk sac derivation and the role of the y chromosome are discussed. The idea that XY gonadal dysgenesis may be familial also is discussed.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
7/21. Germ cell tumor showing partial trisomy 1 in a gonadectomized intersex child with monosomy X and double Y mosaicism.High incidence of germ cell tumors arising from dysgenetic gonads in patients with sexual chromosome abnormalities has been described, especially in patients with a y chromosome bearing cell line. Here we report a 14-year-old patient with ambiguous genitalia. Constitutional karyotype showed 45,X/46,X,derY [?t(Yp;Yq)] mosaicism. The patient developed an abdominally located mixed malignant germ cell tumor 5 years after the removal of the dysgenetic gonads. Tumor karyotype showed partial trisomy 1q, a derivative 8q, and a hyperdiploidy with X, 7, 12, 15, 19, 21, and an unidentified marker.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
8/21. Mixed germ cell-sex cord stroma tumor of the ovary associated with isosexual precocious puberty in a normal girl.A case of mixed germ cell-sex cord stroma tumor occurring in a normal 8-year-old girl with 46XX karyotype is reported. The child presented with evidence of isosexual precocious puberty 3 years prior to the excision of the tumor. Although the tumor was known to be present at least 2 years prior to its excision and weighed more than 1 kg, there was no evidence of involvement of the adjacent organs or metastases at the time of excision. The contralateral ovary was normal. The endocrine activity abated following the excision of the tumor and the patient is well and free of disease 2 years after the operation. The literature concerning this entity is discussed and reviewed.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
9/21. Chromosome rearrangements in two uterine sarcomas.cytogenetic analysis of short-term cultures from two uterine sarcomas revealed clonal chromosome abnormalities in both cases. A locally recurrent mixed mesodermal tumor had the karyotype 61,XX, 2, 3, del(5)(q11), 6, 7, del(7)(q32), 8, 8, 8, 10, -11,-11, der(11)t(1;11)(q12;p15), der(11)t(1;11)(q12;p15), der(11)t(1;11)(q12;p15 ), del(12)(q14q21), 13, 15,del(17)(q23), 20. The other tumor, a lung metastasis from a uterine leiomyosarcoma, had several karyotypically abnormal clones. Two of them consisted of highly aberrant cells with modal chromosome numbers of 82 and 153, respectively, but because of insufficient quality the complex anomalies could not be identified. Various chromosomal changes that included translocations, deletions, insertions, and numerical rearrangements (always with extra chromosome 7 material) were identified in pseudo- or near-diploid cells, resulting in nine additional cytogenetically abnormal clones.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
10/21. A case of Klinefelter's syndrome associated with hypothalamic-pituitary dysfunction caused by an intracranial germ cell tumor.A 17 year-old boy was admitted to the hospital because of thirst, polyuria (5-61/day), delayed sexual development and muscle weakness. He appeared obese, had an eunuchoidal body habitus and was excessively tall. Chromosomal analysis revealed a 47XXY karyotype. serum cortisol was 1.3 microgram/dl, LH, 10.4 mIU/ml, FSH, 2.0 mIU/ml, and testosterone, 10 ng/dl. Endocrinological dynamic tests indicated diabetes insipidus and hypopituitarism of a hypothalamic type. brain CT disclosed the existence of a tumor shadow around the calcified pineal body, extending towards the suprasellar region. Replacement therapy with glucocorticoid and DDAVP was started. The patient complained of a headache and plasma AFP and hCG concentrations were 868 ng/ml and 68.6 IU/ml respectively. A hCG- and AFP- producing germ cell tumor was suspected and radiation therapy with 60Co was performed. plasma AFP and hCG were decreased with significant clinical improvement. Soon after irradiation, he started to complain of a headache and had elevated AFP and hCG levels. Right hemiparesis and unconsciousness suddenly appeared and he died of left thalamic bleeding. This is the first case of Klinefelter's syndrome associated with intracranial germ cell tumor. plasma testosterone levels fluctuated in parallel with the change in plasma hCG levels. This shows that the leydig cells in this patient could respond to some extent to tumor-producing hCG.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
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