Trisomy 18 and neurogenic neoplasia

Robinson, Margaret G.; McCorquodale, Maureen M.

doi:10.1016/s0022-3476(81)80337-x

Cited by 19 publications

(8 citation statements)

References 8 publications

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“…The patient's parents refused treatment. The tumor increased in size, and the patient died at 9 months [Robinson and McCorquodale, ]. A stage IB Hodgkin lymphoma has been observed 17‐year‐old boy with mosaic trisomy 18.…”

Section: Resultsmentioning

confidence: 99%

“…Leukemia, which is the predominant malignancy in children under 15 years and accounts for 25% of cancers, has not been reported in a child with pure trisomy 18 [Tateishi et al, ]. Neuroblastoma, the third most frequent malignancy in children (7% of cancers) in the general population [Scheurer et al, ], has been reported only once [Robinson and McCorquodale, ]. Additionally, no germ cell tumor such as teratoma, usually observed in infancy or early childhood, has been described in a fetus or a child with Edwards syndrome, though germ cell tumors are reported in trisomy 21 [Satgé et al, ] and in trisomy 13 [Satgé and Van den Berghe, ].…”

Section: Discussionmentioning

confidence: 99%

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A tumor profile in Edwards syndrome (trisomy 18)

Satgé¹,

Nishi²,

Sirvent³

et al. 2016

American J of Med Genetics Pt C

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Constitutional trisomy 18 causes Edwards syndrome, which is characterized by intellectual disability and a particular set of malformations. Although this condition carries high mortality during prenatal and early postnatal life, some of the rare infants who survive the first months develop benign and malignant tumors. To determine the tumor profile associated with Edwards syndrome, we performed a systematic review of the literature. This review reveals a tumor profile differing from those of Down (trisomy 21) and Patau (trisomy 13) syndromes. The literature covers 45 malignancies: 29 were liver cancers, mainly hepatoblastomas found in Japanese females; 13 were kidney tumors, predominantly nephroblastomas; 1 was neuroblastoma; 1 was a Hodgkin disease; and 1 was acute myeloid leukemia in an infant with both trisomy 18 and type 1 neurofibromatosis. No instances of the most frequent malignancies of early life-cerebral tumors, germ cell tumors, or leukemia--are reported in children with pure trisomy 18. Tumor occurrence does not appear to correlate with body weight, tissue growth, or cancer genes mapping to chromosome 18. Importantly, the most recent clinical histories report successful treatment; this raises ethical concerns about cancer treatment in infants with Edwards syndrome. In conclusion, knowledge of the Edwards' syndrome tumor profile will enable better clinical surveillance in at-risk organs (i.e., liver, kidney). This knowledge also provides clues to understanding oncogenesis, including the probably reduced frequency of some neoplasms in infants and children with this genetic condition. © 2016 Wiley Periodicals, Inc.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

A tumor profile in Edwards syndrome (trisomy 18)

Satgé¹,

Nishi²,

Sirvent³

et al. 2016

American J of Med Genetics Pt C

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“…lt has been reported that the incidence of trisomy 18 is one in 3000 to 7000 births (2, 11, 13, l.t) and that sunival beyond infancy is unusual (2,7,15). Though se\'eral different anomalie ha\'e been associated \\'ith tri omy 18, the malignancy has only been rarely described, notably in t\\•o patients with Wilms' tumor (5,8) and one with neurogenic tumor (12)…”

Section: Introductionmentioning

confidence: 99%

“…Many anomalies complicate trisomy Ig but neoplasm is one of the rare associations. It was reported that two cases of Wilms' tumors(5,8) and one case of neurogenic tumor were associated with trisomy 18(12).…”

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confidence: 99%

Hepatoblastoma in a 2-Year-Old Girl with Trisomy 18

Tanaka

Uemoto²,

Asonuma³

et al. 1992

Eur J Pediatr Surg

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A very rare case of mosaic type trisomy 18 associated with hepatoblastoma is described. The patient underwent an extended right hepatic lobectomy at 2 years of age, and the resected tumor was diagnosed as a fetal type dominant hepatoblastoma. The results of chromosome analysis demonstrated that in the peripheral blood and skin, the trisomy 18 cells were 80% and 67%, respectively. On the other hand, although virtually 100% of the cells in the normal liver tissue were 46, XX, about one third of the cells were trisomy 18 in the tumor tissue. At 2 years and 9 months after the operation, the patient was generally healthy and had no evidence of recurrence.

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“…Nevertheless, there are reports of one neurogenic tumor [8] and at least six Wilms tumors, in children with ES [9]-[12]. …”

Section: Discussionmentioning

confidence: 99%

Multifocal hepatoblastoma in a 6-month-old girl with trisomy 18: a case report

2009

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IntroductionEdward's syndrome (trisomy 18) is a rare entity with a reported incidence of 1/3000 to 1/7000 births. Less than 10% of patients survive beyond the first year of life, which may influence the fact that malignant tumors are rarely reported in association with this syndrome.Case presentationThe authors report a rare case of a 6-month-old girl with trisomy 18 and multifocal hepatoblastoma. The course of the disease, autopsy results and review of the literature are presented.ConclusionOur case represents the seventh published case of hepatoblastoma in a patient with trisomy 18. All of the seven published cases were women, possibly due to the high preponderance of females among the children with Edward's syndrome and longer survival of females with trisomy 18 compared to males. Since both trisomy 18 and hepatoblastoma are rare conditions, the probability that a child with trisomy 18 will independently develop a hepatoblastoma is very low. Therefore, we believe that the existence of these cases in children with trisomy 18 indicates a significant association. It can be assumed that trisomy 18 potentiates the development of hepatoblastoma. Careful clinical and post-mortem studies are needed to recognize the real frequency of hepatoblastoma in children with trisomy 18, who might die from different causes with unrecognizable hepatoblastoma.

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Trisomy 18 and neurogenic neoplasia

Cited by 19 publications

References 8 publications

A tumor profile in Edwards syndrome (trisomy 18)

A tumor profile in Edwards syndrome (trisomy 18)

Hepatoblastoma in a 2-Year-Old Girl with Trisomy 18

Multifocal hepatoblastoma in a 6-month-old girl with trisomy 18: a case report

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