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

Kitanovski, Lidija; Ovčak, Zdenka; Jazbec, Janez

doi:10.4076/1752-1947-3-8319

Cited by 30 publications

(26 citation statements)

References 21 publications

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“…One family opted not to treat; the patient expired from disease progression. 9 Four of 9 of the trisomy 18 hepatoblastomas were stage I pure fetal tumors, a higher incidence than the 5% seen in Ortega et al's 19 study on children with presumed normal karyotypes. Although further studies need to be done, trisomy 18 could be correlated with a higher incidence of stage I pure fetal tumors.…”

Section: Discussionmentioning

confidence: 79%

Hepatoblastoma in a Mosaic Trisomy 18 Patient

Pereira¹,

Marion²,

Ramesh³

et al. 2012

Journal of Pediatric Hematology/Oncology

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We report a case of hepatoblastoma in a 10-year-old girl with mosaic-type trisomy 18. A comprehensive literature review reveals only 2 cases involving mosaic trisomy 18 patients. Our patient underwent an abbreviated chemotherapy course before complete surgical resection. Her hepatoblastoma did not contain cells with trisomy 18. The conservative management approach resulted in a successful outcome; she remains disease free >2 years after surgery. Along with presenting a literature review, this report demonstrates a favorable outcome in a mosaic trisomy 18 child with hepatoblastoma where tumor cells lacked a trisomy 18 karyotype.

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Section: Discussionmentioning

confidence: 79%

Hepatoblastoma in a Mosaic Trisomy 18 Patient

Pereira¹,

Marion²,

Ramesh³

et al. 2012

Journal of Pediatric Hematology/Oncology

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“…This classification is based on the extension of the tumor tissue in 4 major regions of the liver: right-hand zone (Couinaud 6, 7); front right area (Couinaud 5, 8); central left zone (Couinaud 4a, 4b); left side area. 2,3 Each anatomical status was assigned to a group (PRETEXT I, II, III, or IV) determined by the number of adjacent zones affected. According to this classification, the patient identified as PRETEXT I-II underwent resection and the patient classified as PRETEXT III-IV underwent liver transplantation, except in 1 case that required transplant due to a relapse of the disease, according to the medical criterion in an individualized way.…”

Section: Methodsmentioning

confidence: 99%

“…1 Several genetic syndromes, such as trisomy 18 (Edward Syndrome), Beckwith-Wiedemann syndrome, and familial adenomatous polyposis, have been associated with this pathology. 2,3 …”

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confidence: 99%

Hepatoblastoma: Transplant Versus Resection Experience in a Latin American Transplant Center

Caicedo

Sabogal

Serrano

et al. 2017

Transplantation Direct

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BackgroundHepatoblastoma is the most common primary malignant liver tumor in children and is usually diagnosed during the first 3 years of life. Overall survival has increased 50% due to chemotherapeutic schemes, expertise surgery centers, and liver transplantation.MethodsA retrospective collection of data was performed from pediatric patients with diagnosis of hepatoblastoma. Variables included demographic, diagnostic tools and histological classification; chemotherapy and surgical treatment; and outcomes and patient survival. The PRETEXT classification was applied, which included the risk evaluation, and according to the medical criterion in an individualized way, underwent resection or transplant. The morbidity of patients was evaluated by the Clavien-Dindo classification. Statistical analysis was performed according to the distribution of data and the survival analysis was carried out using the Kaplan-Meier method.ResultsThe patients (n = 16) were divided in a resection group (n = 8) and a transplant group (n = 8). The median age at the time of diagnosis was 13.5 months. The motive for the initial consultation was the discovery of a mass; all patients had high levels of α-fetoprotein and an imaging study. Ten of 16 patients required chemotherapy before the surgical procedure. In the resection group, 5 of 8 patients were classified as Clavien I and 4 of 8 patients of the transplant group were classified as Clavien II. Patient survival at 30 months was 100% in the resection group and 65% in the liver transplantation group.ConclusionsTo our knowledge, this is the first case report of pediatric patients with hepatoblastoma and liver resection or transplant in Colombia and Latin America. Our results are comparable with the series worldwide, showing that resection and transplant increase the survival of the pediatric patients with hepatoblastoma. It is important to advocate for an increase of reporting in the scientific literature in Latin America.

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“…Trisomy 18 patients have an increased risk to develop some neoplasia, including Wilms tumor [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 hepatoblastoma [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], with a variable prognosis. None of the described patients with Wilms tumor and only two of the described patients with hepatoblastoma had a mosaic trisomy…”

Section: Discussionmentioning

confidence: 99%

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

Cited by 30 publications

References 21 publications

Hepatoblastoma in a Mosaic Trisomy 18 Patient

Hepatoblastoma in a Mosaic Trisomy 18 Patient

Hepatoblastoma: Transplant Versus Resection Experience in a Latin American Transplant Center

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

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