Hepatoblastoma in a mosaic trisomy 18 child with hemihypertrophy

Abstract

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.

Surgical and anesthetic management for hepatectomy in two pediatric patients with trisomy 18, pulmonary hypertension, and hepatoblastoma

“…Including the current reports, 46 patients with trisomy 18 and HB have been reported in the literature, including 23 patients reported in the Japanese literature and summarized in English elsewhere (Supporting Information Table S1). These patients were predominantly female (M:F 1:7.8), in contrast to a male predominance for patients not selected for trisomy 18 (M:F 1.2:1) . This appears to be related to the female predominance of patients with trisomy 18 surviving past the neonatal period with the recent increases in life‐sustaining treatment approaches .…”

Solid tumor screening recommendations in trisomy 18

“…Of the reports that describe histopathology, eight had fetal type hepatoblastoma (Fernandez et al, ; Hamada et al, ; Kitanovski, Ovcak, & Jazbec, ; Maruyama, Ikeda, & Koizumi, ; Pereira et al, ; Takada et al, ; Tan, Lai, Chen, Chang, & Tan, ; Tanaka et al, ; Teraguchi et al, ; Teraguchi et al, ; Uemura, Tsuta, Shintaku, & Tsubura, ; Uemura, Tsuta, Tsubura, & Shintaku, ; Farmakis, SOFT registry), nine had well‐differentiated hepatoblastoma and five had mixed fetal and embryonal types of hepatoblastoma (Ahmad, Wheeler, Stewart, & Campbell, ; Bove, Soukup, Ballard, & Ryckman, ; Habu et al, , ; Hino et al, ; Iiyama et al, ; Ishibashi et al, ; Ishibashi, Ooshio, & Sogami, ; Nishimura, Kanaoka, Nii, & Hashimoto, ; Ogawa et al, ; Oohashi et al, ; Suzuki et al, ; Suzuya et al, ; Tan et al, ; Uekusa et al, , ; Valentin, Perez, & Masand, ). The histopathologic type was not reported in 19 patients (Abe et al, ; Abe et al, ; Dasouki & Barr, ; Kunikata et al, ; Matsuoka & Miauchi, ; Sugitate et al, ; Takagi et al, ; Valentin et al, ; Watanabe, Shimada, Shimazaki, & Takahashi, ; Yokoyama, Imamura, Kakimot, & Kokai, ; SOFT registry).…”

“…Six of the patients had documented mosaic trisomy 18, and one had concomitant hemihypertrophy (Ahmad et al, ; Fernandez et al, ; Takahashi et al, ; Pereira et al, ; Tanaka et al, ; SOFT registry). The mosaic form is considered less severe, and patients often have longer life expectancy.…”

Trisomía 18 en mosaico. Serie de casos.

“…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.…”