Hepatoblastoma in a Mosaic Trisomy 18 Patient

Pereira, Elaine M.; Marion, Robert W.; Ramesh, K. H.; Kim, Jane S.; Ewart, Michelle; Ricafort, Rosanna

doi:10.1097/mph.0b013e3182459ee8

Cited by 24 publications

(38 citation statements)

References 19 publications

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“…The serum AFP is elevated and can be diagnostic when associated with typical clinical and radiological appearances. A complete surgical resection, determined by PRETEXT staging, is essential to optimise the chances of long-term cure and, in Europe, this is almost always preceded by neoadjuvant chemotherapy 3 4…”

Section: Discussionmentioning

confidence: 99%

“…Following an extended literature search we found 13 reported cases, including our patient's, of hepatoblastoma in trisomy 18 patients, and their important characteristics have been summarised in table 1 1 3 5–13. Of these 13 patients, 6 died within 1–5 months of presentation, either because of tumour progression or a cardiac complication related to trisomy 18.…”

Section: Discussionmentioning

confidence: 99%

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Hepatoblastoma in a mosaic trisomy 18 child with hemihypertrophy

Ahmad¹,

Wheeler

Stewart

et al. 2016

BMJ Case Reports

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To date, there are 12 reported cases of hepatoblastoma in trisomy 18 patients, three of whom had a mosaic chromosome pattern. We report on an 18-month-old child who had hemihypertrophy and developmental delay, was found to have hepatoblastoma on surveillance ultrasound scan, and was subsequently diagnosed with mosaic trisomy 18 on array comparative genomic hybridisation from a peripheral blood sample and molecular cytogenetic analysis of the tumour specimen. Although hemihypertrophy has been associated with mosaic trisomies, there are only a couple of published case reports of hemihypertrophy or asymmetry in mosaic trisomy 18 patients and none in the reported cases of hepatoblastoma in a mosaic trisomy 18 setting. We have reviewed the published case reports of hepatoblastoma in trisomy 18 patients and found that they seem to tolerate the intensive treatment very well if there are no significant comorbidities.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Hepatoblastoma in a mosaic trisomy 18 child with hemihypertrophy

Ahmad¹,

Wheeler

Stewart

et al. 2016

BMJ Case Reports

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“…En todos los casos, se les brindó apoyo psicológico a los padres. Además, se ha asociado la T18 en mosaico con hepatoblastoma 4,6,7 y, en un caso, con linfoma de Hodgkin. 2 Es por esto por lo que, aparte de las evaluaciones realizadas, los pacientes deben ser seguidos por la Unidad de Oncología Pediátrica ante el posible riesgo de presentar cáncer.…”

Section: Discussionunclassified

Trisomía 18 en mosaico. Serie de casos.

et al. 2017

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RESUMENEl síndrome de la trisomía 18 es un trastorno clínico y genético, el cual presenta un cromosoma 18 extra completo en cada célula, variante que se denomina trisomía libre. Además, puede ocurrir en la forma parcial y mosaico. Clínicamente, se caracteriza por retardo del crecimiento intrauterino, del desarrollo psicomotor y mental, hallazgos craneofaciales característicos, cardiopatía congénita, pelvis hipoplásica, manos empuñadas y pies en mecedora, entre otros. La trisomía 18 en mosaico se presenta cuando células con trisomía del cromosoma 18 y líneas celulares normales existen en un mismo individuo, y corresponde al 5% de los casos. Los hallazgos fenotípicos son muy variables y no se evidencia una correlación entre el porcentaje de células trisómicas y los hallazgos encontrados. El objetivo de este informe es presentar una serie de cinco casos de trisomía 18 en mosaico. Se hace énfasis en los aspectos clínicos con la finalidad de orientar una adecuada atención médica interdisciplinaria y brindar un oportuno asesoramiento genético. Palabras clave: trisomía 18, mosaicismo, asesoramiento genético. ABSTRACTTrisomy 18 syndrome (T18) is a clinical and genetic disorder, which has a full extra chromosome 18 in each cell, variant that is called free trisomy. In addition, it can occur in partial and mosaic form. It is characterized by intrauterine growth restriction, psychomotor and mental retardation, characteristic craniofacial findings, congenital heart disease, hypoplastic pelvis, clenched hand and rocker-bottom foot, among others. The mosaic T18 occurs when cells with T18 and normal cell lines exist in the same individual and correspond to 5% of cases. Trisomía 18 en mosaico. Serie de casos Mosaic trisomy 18. Series of casesThe phenotypic findings are highly variable and no correlation was evident between the percentage of trisomic cells and the findings found. The aim of this report is to present a series of five cases of mosaic T18 with emphasis on clinical aspects in order to guide an interdisciplinary adequate medical care and provide timely genetic counseling.

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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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Hepatoblastoma in a Mosaic Trisomy 18 Patient

Cited by 24 publications

References 19 publications

Hepatoblastoma in a mosaic trisomy 18 child with hemihypertrophy

Hepatoblastoma in a mosaic trisomy 18 child with hemihypertrophy

Trisomía 18 en mosaico. Serie de casos.

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

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