Successful treatment for hepatoblastoma in a 1‐year‐old boy with trisomy 18

Uekusa, Shota; Sugito, Kiminobu; Kawashima, Hiroyuki; Yoshizawa, Shinsuke; Furuya, Takeshi; Ohashi, Keiji; Ikeda, Taro; Koshinaga, Tsugumichi; Mugishima, Hideo

doi:10.1111/j.1442-200x.2011.03528.x

Cited by 16 publications

(14 citation statements)

References 13 publications

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“…Only 5–10% of affected infants live past the first year, and the infants who survive this period are at increased risk to develop benign and malignant tumors (43). The high mortality rate is a result of many factors including cardiac and renal malformations, feeding difficulties, sepsis, and central apnea (44). Children with mosaic or partial trisomy 18 have a higher life expectancy than the children with full trisomy 18.…”

Section: Genetic Summarymentioning

confidence: 99%

Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma

Kalish

Doros

Helman

et al. 2017

Clinical Cancer Research

165

150

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A number of genetic syndromes have been linked to increased risk for Wilms tumor (WT), hepatoblastoma (HB) and other embryonal tumors. Here, we outline these rare syndromes with at least a 1% risk to develop these tumors and recommend uniform tumor screening recommendations for North America. Specifically, for syndromes with increased risk for WT, we recommend renal ultrasounds every 3 months from birth (or the time of diagnosis) through the 7th birthday. For HB, we recommend screening with full abdominal ultrasound and alpha-fetoprotein serum measurements every 3 months from birth (or the time of diagnosis) through the 4th birthday. We recommend that when possible, these patients be evaluated and monitored by cancer predisposition specialists. At this time, these recommendations are not based on the differential risk between different genetic or epigenetic causes for each syndrome, which some European centers have implemented. This differentiated approach largely represents distinct practice environments between the United States and Europe and these guidelines are designed to be a broad framework within which physicians and families can work together to implement specific screening. Further study is expected to lead to modifications of these recommendations.

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Section: Genetic Summarymentioning

confidence: 99%

Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma

Kalish

Doros

Helman

et al. 2017

Clinical Cancer Research

165

150

View full text Add to dashboard Cite

show abstract

“…However, typical treatment protocols were occasionally modified due to the physical disposition of patients with trisomy 18; and in some cases, the patients did not receive oncotherapy and died from their tumors. The most recent publications report better outcomes, with survival after treatments using surgery and conventional or adjuvant chemotherapy …”

Section: Discussionmentioning

confidence: 99%

“…The most recent publications report better outcomes, with survival after treatments using surgery and conventional or adjuvant chemotherapy. [8][9][10][11][12] At least 34 patients have been reported in the medical literature with hepatoblastoma associated with trisomy 18 ( Based on our experience of patients with trisomy 18 and organ anomalies, nonmetastatic hepatoblastoma can be treated safely without reducing the intensity of chemotherapy when cardiopulmonary function is relatively stable, and cure is possible. Early detection is important for hepatoblastoma and prognosis is related to the possibility of total tumor resection.…”

Section: Discussionmentioning

confidence: 99%

Therapeutic experience with hepatoblastoma associated with trisomy 18

Inoue

Suzuki

Urabe

et al. 2018

Pediatric Blood & Cancer

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Trisomy 18 is often fatal, but patients with this disease can now have longer survival due to proactive treatment intervention. However, hepatoblastomas may develop in these patients. In this study, we report four cases of hepatoblastoma associated with trisomy 18. All of the patients had congenital heart disease and three had undergone intracardiac surgical repair. Tumor growth was relatively slow in all cases, and there were no problems with chemotherapy tolerability and surgical resection. Three of the patients are currently disease-free and the fourth is alive with remaining of the tumor. These cases suggest that combined chemotherapy and surgical resection may be an option to treat hepatoblastoma associated with trisomy 18 when cardiac pulmonary function is relatively stable.

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“…Eight cases of Wilms tumor, with an age at diagnosis ranging from 12 months to 13 years (average age of 5 years, later than it occurs in general population) [Bove et al, 1969;Geiser and Schindler, 1969;Shanklin and Sotello-Avilla, 1969;Karayalcin et al, 1981;Wang-Wuu et al, 1990;Faucette and Carey, 1991;Carey et al, 2002;Anderson et al, 2003], and 12 cases of hepatoblastoma, with an age at diagnosis ranging from 4 months to 10 years [Dasouki and Barr, 1987;Mamlok et al, 1989;Tanaka et al, 1992;Bove et al, 1996;Teraguchi et al, 1997;Maruyama et al, 2001;Kitanovski et al, 2009;Fernandez et al, 2011;Pereira et al, 2012;Uekusa et al, 2012;Tan et al, 2014], have been reported in children with trisomy 18. The association of trisomy 18 with Hodgkin lymphoma (HL) has never been described.…”

Section: Introductionmentioning

confidence: 97%

Hodgkin lymphoma in a patient with mosaic trisomy 18: First clinical observation

Motta

Sala

et al. 2015

American J of Med Genetics Pt A

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We report the case of a 17-year-old boy with a mosaic trisomy 18, who was diagnosed with Hodgkin lymphoma. The patient showed only poor growth and two muscular ventricular septal defects; no facial dysmorphims were present. He was admitted to our hospital because of asthenia and weight loss; a mediastinal enlargement was found and an histological diagnosis of nodular sclerosis Hodgkin lymphoma on mediastinal biopsy was performed. Contextually, a chromosomal analysis on bone marrow aspirate and on peripheral blood revealed a mosaic trisomy 18. This result was confirmed also with cytogenetic analysis on skin fibroblasts. While there is a well-documented association between trisomy 18 and solid cell tumors, this is, to our knowledge, the first reported case of Hodgkin lymphoma in a patient with a mosaic trisomy 18, enlarging the spectrum of possible oncologic manifestations of the disease.

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Successful treatment for hepatoblastoma in a 1‐year‐old boy with trisomy 18

Cited by 16 publications

References 13 publications

Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma

Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma

Therapeutic experience with hepatoblastoma associated with trisomy 18

Hodgkin lymphoma in a patient with mosaic trisomy 18: First clinical observation

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