Testicular Germ Cell Tumor and down Syndrome

Villanueva, María José; Navarro, Fátima; Sánchez, Antonio; Provencio, Mariano; Bonilla, Félix; España, Pilar

doi:10.1177/030089160008600514

Cited by 4 publications

(5 citation statements)

References 11 publications

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“…However, our case revealed no cryptorchidism. (ii) Another possible link between Down syndrome and testicular tumor is the elevated level of circulating gonadotropins 2,7 , 8 . Similarly in the patient in our case, FSH and LH levels were well above normal range (FSH 41.9 mIU/mL, normal range 2.9–8.2 mIU/mL; LH7.7 mIU/mL, normal range 1.8–5.2 mIU/mL).…”

Section: Discussionsupporting

confidence: 75%

“…Different hypotheses can be proposed. (i) Cryptorchidism is a well known risk factor for testicular germ cell tumor, and is often associated with Down syndrome 2,7 , 8 . However, our case revealed no cryptorchidism.…”

Section: Discussionmentioning

confidence: 43%

“…(iii) A third presumption is rather speculative, based on the impact of gene dosage effect due to supernumerary chromosome 21 on germ cells 7 . According to the fact that aberration of chromosomes 7, 8, 12, 21, 22, and X is frequently observed in testicular tumors, 7 it is speculated that many oncogenic factors including ERG, Ets‐2, and AML‐1 could contribute to testicular germ cell tumor carcinogenesis in Down syndrome 7,8 …”

Section: Discussionmentioning

confidence: 99%

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Testicular tumor in Down syndrome

et al. 2005

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A 33-year-old male patient with Down syndrome, who stayed in a welfare institution, visited our hospital due to left testicular enlargement. He was diagnosed as having a left testicular tumor and underwent radical inguinal orchiectomy. Preoperatively, serum level of beta-human chorionic gonadotrophin ( β -HCG) increased to 0.9 ng/ mL (normal range < 0.2 ng/mL). For the last 2 years after orchiectomy, the serum level of β -HCG remained normal.Histopathological examination of specimen revealed a typical seminoma. It is currently thought that risk of developing leukemia in patients with Down syndrome is 20-to 30-fold higher than that in normal subjects. Furthermore, the incidence of testicular cancer as a complication other than leukemia is expected to increase because of the increasing postpubertal population with Down syndrome.

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Section: Discussionsupporting

confidence: 75%

Section: Discussionmentioning

confidence: 43%

Section: Discussionmentioning

confidence: 99%

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Testicular tumor in Down syndrome

et al. 2005

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“…Down syndrome (DS) is the most common genetic aetiology among persons with intellectual disability (ID) occurring in 1 of every 800–1,000 live births 1, 2. Nine out 10 persons with DS have a full trisomy of chromosome 21,3 leading to overexpression of genes related to disorders common among this population such as RUNX1 in acute myeloid leukaemia,4, 5 germ cell tumours6 and early onset of Alzheimer disease due to excess of amyloid protein precursor 7. Although there is a well‐known risk of childhood leukaemia, albeit decreasing with age, less is known about solid tumours 8.…”

mentioning

confidence: 99%

Cancer incidence of persons with down syndrome in Finland: A population‐based study

Patja

Pukkala

Sund

et al. 2005

Intl Journal of Cancer

136

114

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Individuals with Down syndrome (DS) have a predisposition to leukaemia and testicular cancer, but data on the incidence of cancers are yet sparse. A cohort of 3,581 persons with DS was identified from a National Registry of Finnish persons with intellectual disability collected between 1978 and 1986 and followed-up for cancer incidence until 2002. Standardised incidence ratios (SIRs) were defined as ratios of observed number of cancer cases to those expected from the national cancer incidence rates, by age and sex. The overall cancer risk was equal to that of the general population, but a significantly high risk of leukaemia (SIR 10.5, CI 95% 6.6-15.8) and testicular cancer (SIR4.8, CI 95% 1.8-10.4) was found. ' 2005 Wiley-Liss, Inc.

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“…Down syndrome (DS) has a unique profile of neoplasms, with a higher incidence of leukemia and a lower incidence of solid tumors, except for testicular tumors, than the general population . The decreased incidence of most solid tumors in DS has been associated with specific chromosome 21 genes .…”

Section: Introductionmentioning

confidence: 99%

Increased incidence of retroperitoneal teratomas and decreased incidence of sacrococcygeal teratomas in infants with Down syndrome

Kobayashi

Sakemi

Yamashita

2013

Pediatr Blood Cancer

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Individuals with Down syndrome (DS) have a unique profile of neoplasms, with a higher incidence of leukemias and a lower incidence of solid tumors than seen in the general population. We recently encountered two cases of infants with DS with retroperitoneal teratoma. After reviewing the literature on teratomas in DS, we found that the incidence of retroperitoneal teratomas was higher and the incidence of sacrococcygeal teratomas was lower in infants with DS than in the general population.

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Testicular Germ Cell Tumor and down Syndrome

Abstract: The association between Down syndrome and testicular germ cell tumors may be more frequent than expected according to chance, but few reports have focused on this excess. We report two cases of this association and review the English medical literature.

Cited by 4 publications

References 11 publications

Testicular tumor in Down syndrome

Testicular tumor in Down syndrome

Cancer incidence of persons with down syndrome in Finland: A population‐based study

Increased incidence of retroperitoneal teratomas and decreased incidence of sacrococcygeal teratomas in infants with Down syndrome

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