The X linked recessive form of XY gonadal dysgenesis with a high incidence of gonadal germ cell tumours: clinical and genetic studies.

Mann, J R; Corkery, J.J.; Fisher, Hans; Cameron, A. H.; Mayerová, A; Wolf, U.; Kennaugh, A. A.; Woolley, V. J.

doi:10.1136/jmg.20.4.264

Cited by 43 publications

(20 citation statements)

References 17 publications

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“…A total of eight case children had chromosomal or genetic conditions of which a number are already known to pre-dispose to malignancy. Of these, Down's syndrome was present in three children with leukaemia, and a child with X-linked XY gonadal dysgenesis had gonadoblastoma (previously reported, Mann et al, 1983). Also, a boy with skin lesions and IgA deficiency had adenocarcinoma of the caecum and later died of nonHodgkin's lymphoma; his brother, who also had skin lesions, IgA deficiency and cystic hygroma had glioblastoma multi- (Mann et al, 1983) and brothers with colorectal carcinoma and also, respectively, non-Hodgkin's lymphoma and glioma (Al Sheyyab et al, 1993).…”

Section: Index Childrenmentioning

confidence: 99%

“…Of these, Down's syndrome was present in three children with leukaemia, and a child with X-linked XY gonadal dysgenesis had gonadoblastoma (previously reported, Mann et al, 1983). Also, a boy with skin lesions and IgA deficiency had adenocarcinoma of the caecum and later died of nonHodgkin's lymphoma; his brother, who also had skin lesions, IgA deficiency and cystic hygroma had glioblastoma multi- (Mann et al, 1983) and brothers with colorectal carcinoma and also, respectively, non-Hodgkin's lymphoma and glioma (Al Sheyyab et al, 1993). Also, there were several individuals with neural tube defects in the family of a boy who had Goldenhar's syndrome and acute lymphoblastic leukaemia (Figure 2) and polycystic kidneys, neurofibromatosis, cerebellar tumour, diabetes and frontonasal dysplasia in the relatives of a boy with teratoma ( Figure 1).…”

Section: Index Childrenmentioning

confidence: 99%

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Congenital abnormalities in children with cancer and their relatives: results from a case-control study (IRESCC)

Mann

Dodd²,

Draper³

et al. 1993

Br J Cancer

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Summary Several studies have revealed an excess of malformations in children with certain malignancies. A few environmental causes have been identified which may damage the foetus and lead to malformation and cancer. However, most of the numerous recognised cancer/malformation syndromes are genetically determined.This report describes a case-control study of 555 newly diagnosed children with cancer and 1,110 matched controls, chosen from general practitioner lists (GP controls) and hospital admissions (H controls). Their parents were interviewed on topics of possible aetiological significance and medical records were checked to confirm reports at interview. The numbers of congenital malformations in the index and GP control children, and the relatives of the index children, the GP and H controls are described.There were more children with malformations among the cases (60/555) than among the GP controls (27/555), P<0.001. The abnormalities in the cases included eight with specific chromosomal/genetic conditions (e.g. Down On the whole genetically determined factors seem to be more important than environmental agents in the aetiology of childhood cancers, although they may interact with each other. Knudson proposed a 'two mutation' or 'two hit' hypothesis for the development of retinoblastoma (Knudson, 1971;Hethcote & Knudson, 1978;Knudson, 1978) which has since been shown by DNA technology to be correct (Cavenee et al., 1983) and may apply to several other childhood cancers too. However, although a large number of specific anomalies has been described in association with certain childhood cancers (Schimpke, 1978;Knudson, 1986;Dodet & Lenoir, 1990) such as sporadic aniridia, genito-urinary anomalies and mental retardation with Wilms' tumour due to chromosome lIp 13 deletions (Riccardi et al., 1978) there have also been reports of an excess of various less specific anomalies in children with Wilms' tumour (Miller et al., 1964), germ cell tumours (Birch, 1980;Birch et al., 1982;Johnston et al., 1986), rhabdomyosarcomas (Ruymann et al., 1988 and liver tumours .The purposes of the investigation described in this report were to quantify the association of congenital malformations with childhood cancers, and, by studying the incidence of malformations in relatives, to determine to what extent these were inherited and to what extent they might represent new mutations. In addition, family pedigrees were examined for evidence of known and hitherto unrecognised cancerassociated syndromes. The parents of 555 children who were newly diagnosed to have cancer and resident in the West Midlands, North West and Yorkshire Health Authority Regions in England were interviewed with a standard questionnaire. Each case child was matched for age and sex with two control children selected from general practitioner lists, designated GP controls (GPC), and hospital admissions, designated hospital '

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Section: Index Childrenmentioning

confidence: 99%

Section: Index Childrenmentioning

confidence: 99%

Congenital abnormalities in children with cancer and their relatives: results from a case-control study (IRESCC)

Mann

Dodd²,

Draper³

et al. 1993

Br J Cancer

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“…The three other gonadal tumours (one YST, two germinomas) occurred in the dysgenetic gonads of three phenotypic sisters with 'testicular feminisation'. This family has been reported previously (Mann et al, 1983). No other families with more than one affected member were observed.…”

Section: Incidencementioning

confidence: 71%

“…The three sisters with tumours of dysgenetic gonads were counted as one incident case for their area, since the known familial basis of this condition (Mann et al, 1983) precludes them from being considered as geographically independent individuals. The cases were mapped by their postcodes, which were available for 98/100 eligible cases; the two other cases could readily be assigned to their HD from the address alone.…”

Section: Geographical Distributionmentioning

confidence: 99%

Changing incidence and geographical distribution of malignant paediatric germ cell tumours in the West Midlands Health Authority region, 1957-92

Muir

Parkes²,

Lawson³

et al. 1995

Br J Cancer

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S_mmary The West Midlands Regional Children's Tumour Research Group holds high-quality data from 1957 on all childhood cancers in the West Midlands Health Authority region. Since it has been reported that malignant germ cell tumours are increasing in incidence in the north-west of England, we undertook to examine rates in this region and to map the distribution of cases in order to assess any geographical changes in incidence rates. We identified a total of 102 malignant germ cell tumours (MGCTs) between 1957 and 1992.The average age-standardised rate was 1.6 per million per year in the period 1957-74 and 3.6 per million per year during 1975-92, a significant increase (P = 0.0004). Particular increases were noted in older children (10-14 years); P = 0.0002) and in yolk sac (endodermal sinus) tumours (P= 0.004 All cases were subject to pathology review by a panel of three specialist paediatric pathologists in order to verify the diagnosis. In the cases where there was no material available for review, the details were scrutinised by the senior pathologist (AHC) and clinician (JRM) and the diagnosis confirmed or rejected on the available evidence.Annual age-standardised incidence rates (ASRs) were calculated by the direct method (Parkin et al., 1988) using quinquennially age-grouped population figures, derived from mid-year population estimates produced by the West Midlands Regional Health Authority. Changes in the incidence trend of these ASRs were assessed using simple linear regression (Armitage and Berry, 1987) and also a cumulative sum (Cusum) technique (Wetherill, 1977).In addition, in order to assess possible temporal changes in incidence in detail, we chose a priori to divide our 36 year time period into two 18 year groupings (1957-74 and 1975-92).Geographical analysis was carried out based on the postcode of the patient's address at diagnosis, which was then assigned to health district (HD), this being the smallest unit for which consistent population figures were available for the entire time period.The West Midlands County was created in 1974, incorporating Coventry into the existing West Midlands conurbation (Byrne, 1983). Before that year, the boundaries of the WMRHA were coterminous with the shire counties for which population data are available. In order to investigate the incidence in more detail, we examined the rates in two areas of contrasting environments, broadly encompassing the highly populated, industrial areas of the conurbation and the surrounding largely rural areas. (The individual health districts which make up these two regions are shown in Figure

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“…This locus, termed T-associated sex reversal (Tas), is located in a deletion of the T locus that is common to both T' and Tori alleles. Abnormal testis development occurs in B6 T0'" or T&D mice provided that the Y chromosome is derived from the AKR/J strain (Washburn & Eicher, 1989 , 1983;Fechner et al, 1993). In one of these families, affected 46,XY subjects carried a duplication of distal Xp sequences, and presented with other congenital abnormalities (Bernstein et a!., 1980).…”

Section: T-assocjated Sex Reversal (Tas)mentioning

confidence: 99%

The genetic basis of murine and human sex determination: a review

et al. 1995

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Determination of mammalian sex depends on the presence or absence of a functional testis. Testes are determined by the activity of the testis determining factor encoded by the sex determining gene, Y (SRY) located on the Y chromosome. Considerable evidence suggests that the SRY gene is the only gene on the Y chromosome that is both necessary and sufficient to initiate testis determination. Other steps in the mammalian sex determining pathway are unknown, although recent advances have shown that mutations in X chromosome and autosoma! loci are also associated with sex reversal, suggesting the presence of at least one other sex determining gene. Duplications of sequences on the short arm of the human X chromosome, including the DAX-1 (DSS-AHC critical region on the X chromosome, gene 1) gene, are occasionally associated with XY male-to-female sex reversal. In addition, mutations in the SRY-related gene SOX9 (SRY-related box) are associated with a failure of human testicular determination. Furthermore, the occurrence of inherited sex reversed conditions in both mice and men indicate the presence of at least one other sex determining gene. Breeding the Y chromosome from certain Mus musculus domesticus strains into the laboratory mouse strain C57BLI6J results in XY male-to-female sex reversal. This suggests both allelic variation of the Sy gene and the presence of autosomal sex determining genes. In humans, familial cases of SRY-negative XX males occur. Analysis of the transmission of the trait indicates the segregation of an autosomal or X-linked recessive mutation. The mutation may be in a gene whose wild-type function is to inhibit male sex determination. SRY may trigger male sex determination by repressing or functionally antagonizing the product of this gene.

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The X linked recessive form of XY gonadal dysgenesis with a high incidence of gonadal germ cell tumours: clinical and genetic studies.

Cited by 43 publications

References 17 publications

Congenital abnormalities in children with cancer and their relatives: results from a case-control study (IRESCC)

Congenital abnormalities in children with cancer and their relatives: results from a case-control study (IRESCC)

Changing incidence and geographical distribution of malignant paediatric germ cell tumours in the West Midlands Health Authority region, 1957-92

The genetic basis of murine and human sex determination: a review

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