Carcinoma in situ of the testis in children with 45,X/46,XY gonadal dysgenesis

Müller, Jørn; Skakkebæk, Niels E.; Ritzén, Martin; Plöen, L.; Petersen, Karsten

doi:10.1016/s0022-3476(85)80670-3

Cited by 108 publications

(45 citation statements)

References 19 publications

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“…5,6 It is important because patients with intratubular germ cell neoplasia unclassified have a 50% risk of developing an invasive germ cell tumor within 5 years without treatment. 2,7 Furthermore, intratubular germ cell neoplasia unclassified is frequently encountered in patients with an increased risk to develop a testicular germ cell tumor, eg gonadal dysgenesis, 8 a previous testicular germ cell tumor 9 or cryptorchidism. 10,11 POU5F1, 12 PLAP 13 and KIT 14 are immunohistochemical markers for the identification of intratubular germ cell neoplasia unclassified.…”

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confidence: 99%

Cancer testis antigen expression in testicular germ cell tumorigenesis

et al. 2014

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Cancer testis antigens are encoded by germ line-associated genes that are present in normal germ cells of testis and ovary but not in differentiated tissues. Their expression in various human cancer types has been interpreted as 're-expression' or as intratumoral progenitor cell signature. Cancer testis antigen expression patterns have not yet been studied in germ cell tumorigenesis with specific emphasis on intratubular germ cell neoplasia unclassified as a precursor lesion for testicular germ cell tumors. Immunohistochemistry was used to study MAGEA3, MAGEA4, MAGEC1, GAGE1 and CTAG1B expression in 325 primary testicular germ cell tumors, including 94 mixed germ cell tumors. Seminomatous and non-seminomatous components were separately arranged and evaluated on tissue microarrays. Spermatogonia in the normal testis were positive, whereas intratubular germ cell neoplasia unclassified was negative for all five CT antigens. Cancer testis antigen expression was only found in 3% (CTAG1B), 10% (GAGE1, MAGEA4), 33% (MAGEA3) and 40% (MAGEC1) of classic seminoma but not in nonseminomatous testicular germ cell tumors. In contrast, all spermatocytic seminomas were positive for cancer testis antigens. These data are consistent with a different cell origin in spermatocytic seminoma compared with classic seminoma and support a progression model with loss of cancer testis antigens in early tumorigenesis of testicular germ cell tumors and later re-expression in a subset of seminomas.

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confidence: 99%

Cancer testis antigen expression in testicular germ cell tumorigenesis

et al. 2014

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“…3 The rudimentary streak gonads with or without ipsilateral testis that are present in these individuals are repositories for tumor formation, and the testis may further masculinize the patient at puberty. The potential endocrine and exocrine function of the testis may be determined by measuring serum follicle-stimulating hormone.…”

Section: Discussionmentioning

confidence: 99%

“…Because of possible gonadal dysgenesis, with its increased risk for malignancy, 3 ultrasound studies were done to locate the position and to determine the size of the gonads and uterus. The results indicated no identifiable gonads, consistent with rudimentary streak gonads, and a normal-for-age-sized uterus.…”

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confidence: 99%

A child with 45,X/46,X,del(Y)(q12) identified with a Y-specific probe

Butler¹,

Dev²,

Phillips³

et al. 1986

Fertility and Sterility

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We report a 4-month-old girl with normal length and weight, cleft lip and palate, congenital heart disease, and normal female genitalia. Chromosome studies indicated a mosaic 45,X/ 46,X, + frag pattern. Parental chromosomes were normal. Several chromosome banding procedures and, ultimately, deoxyribonucleic acid (DNA) studies were performed to identify the centric chromosome fragment. Case ReportThis girl was born at 36 weeks' gestation to a 20-year-old primagravida whose pregnancy was complicated by urinary tract infections. The mother did not smoke or consume alcohol during the pregnancy. Labor was prolonged, with the first stage 20 hours in duration. The Apgar scores were 7 at 1 minute and 8 at 5 minutes. Birth weight, length, and occipitofrontal circumference (OFC) were 2.6 kg (25th percentile), 49 cm (60th percentile), and 33 cm (20th percentile), respectively. At birth, multiple anomalies were noted, including left cleft lip and palate, prominent me-topic suture, prominent ears, heart murmur, decreased femoral pulses, and normal female genitalia without clitoral enlargement. No gonads were palpable in the labial folds or inguinal canals. The rest of the physical examination was normal. Radiographs, echocardiograms, and cardiac catheterization indicated a coarctation of the aorta, patent ductus arteriosus (PDA), and ventricular septal defect. The child underwent repair of her coarctation, with ligation of the PDA, during the neonatal period, without complications. The family history was negative for consanguinity or similarly affected relatives.Leukocytes were cultured for chromosome studies. The patient was found to be mosaic, with 60% of the 85 cells analyzed having a 45,X chromosome complement and 40% 46,X, + frag. The chromosome studies were repeated at 4 months of age, and a similar percentage of mosaicism was noted. G -, Q -, C -, AgNOR, and G -11 banding procedures were †

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“…Individuals with DSD, in which the phenotypic gender is uncertain and morphological differences between the testis and the ovary are blurred, have an increased prevalence of gonadal pathologies, including the testicular cancer precursor carcinoma in situ (CIS), gonadoblastoma, testicular germ cell tumors (TGCT) as well as low serum testosterone levels and infertility (74)(75)(76).…”

Section: Consequences Of Dysregulated Meiosis Signaling In the Testesmentioning

confidence: 99%

Regulation of meiotic entry and gonadal sex differentiation in the human: normal and disrupted signaling

Jørgensen

Meyts

2014

Biomolecular Concepts

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Meiosis is a unique type of cell division that is performed only by germ cells to form haploid gametes. The switch from mitosis to meiosis exhibits a distinct sex-specific difference in timing, with female germ cells entering meiosis during fetal development and male germ cells at puberty when spermatogenesis is initiated. During early fetal development, bipotential primordial germ cells migrate to the forming gonad where they remain sexually indifferent until the sex-specific differentiation of germ cells is initiated by cues from the somatic cells. This irreversible step in gonadal sex differentiation involves the initiation of meiosis in fetal ovaries and prevention of meiosis in the germ cells of fetal testes. During the last decade, major advances in the understanding of meiosis regulation have been accomplished, with the discovery of retinoic acid as an inducer of meiosis being the most prominent finding. Knowledge about the molecular mechanisms regulating meiosis signaling has mainly been established by studies in rodents, while this has not yet been extensively investigated in humans. In this review, the current knowledge about the regulation of meiosis signaling is summarized and placed in the context of fetal gonad development and germ cell differentiation, with emphasis on results obtained in humans. Furthermore, the consequences of dysregulated meiosis signaling in humans are briefly discussed in the context of selected pathologies, including testicular germ cell cancer and some forms of male infertility.

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Carcinoma in situ of the testis in children with 45,X/46,XY gonadal dysgenesis

Cited by 108 publications

References 19 publications

Cancer testis antigen expression in testicular germ cell tumorigenesis

Cancer testis antigen expression in testicular germ cell tumorigenesis

A child with 45,X/46,X,del(Y)(q12) identified with a Y-specific probe

Regulation of meiotic entry and gonadal sex differentiation in the human: normal and disrupted signaling

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