Type 1a glycogen storage disease with hepatoblastoma in siblings

Ito, Etsuro; Sato, Yuichi; Kawauchi, Kyoichi; Munakata, Hirohumi; Kamata, Yoshimasa; Yodono, Hirahu; Yokoyama, Masaru

doi:10.1002/1097-0142(19870515)59:10<1776::aid-cncr2820591016>3.0.co;2-t

Cited by 42 publications

(17 citation statements)

References 9 publications

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“…Individual subjects in this cohort, with apparent lifelong near normal metabolic control, developed complications at an early age. In addition, familial clustering of complications has been previously reported [12,13]. While our observations suggest that minimizing the metabolic abnormalities of GSD-1a may decrease the risk of longterm complications, it is likely that other factors are involved in their pathogenesis.…”

Section: Discussionsupporting

confidence: 51%

Effect of continuous glucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease

Weinstein

Wolfsdorf

2002

European Journal of Pediatrics

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Section: Discussionsupporting

confidence: 51%

Effect of continuous glucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease

Weinstein

Wolfsdorf

2002

European Journal of Pediatrics

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“…This raised the question whether the patient's advanced colorectal cancer would have been prevented by early APC analysis and appropriate FAP surveillance. To date, only seven families with HB in siblings have been reported [7,8,[22][23][24][25][26] ( Table 1), in three of them FAP was found [7,8,26]. In all cases of familial HB a detailed patient and family history is essential.…”

Section: Discussionmentioning

confidence: 99%

Hepatoblastoma in two siblings and familial adenomatous polyposis: causal nexus or coincidence?

et al. 2012

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Infantile and childhood hepatoblastoma (HB) occurs more frequently in children with hereditary predisposition to familial adenomatous polyposis (FAP) than in the general population. The occurrence of HB in two infant siblings is reported. The sister died of the disease. The brother survived the HB and was later diagnosed with familial adenomatous polyposis and advanced rectal cancer. He was found to carry a germline mutation of the APC gene. Presuming that the HB in the two siblings was the first manifestation of FAP we performed APC mutation analysis in DNA from archived tumour tissue of his sister and in blood samples of both parents. Surprisingly, the mutation was neither found in both parents, nor in the tissue samples of the sister. We outline the impact of this finding for genetic counselling and review the literature on FAP and HB.

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“…15 Hepatoblastoma in siblings was also rarely reported. [16][17][18][19] Those patients were not diagnosed in newborn period and mostly had unfavorable outcome. We encountered 2 siblings (Patients 8 and 22) with congenital hepatoblastoma diagnosed at birth due to huge abdominal mass.…”

Section: Discussionmentioning

confidence: 99%

Long-term Treatment Results of Hepatoblastoma at a Single Institution in Taiwan

Hou

Liu

Yeh

et al. 2009

Journal of Pediatric Hematology/Oncology

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From 1990 to 2004, there were 23 consecutive patients with hepatoblastoma treated at Mackay Memorial Hospital in Taipei, Taiwan. There were 7 patients of stage I, 3 of stage II, 13 of stage III, and none had stage IV disease. Two siblings had congenital hepatoblastoma and both survived. Two patients were prematurity. Beckwith-Wiedemann syndrome, isosexual precocity, chronic B hepatitis presented in 1 patient each. In addition to surgery, we used cisplatin 90 mg/m/d on day 1 and epirubicin 25 mg/m/d for days 1 to 3 as first-line chemotherapy. Each course was repeated every 3 weeks. Epirubicin was chosen because of its lower cardiotoxicity. Carboplatin/etoposide and vincristine/cyclophosphamide/5-fluorouracil were the second-line chemotherapy for considering cumulative toxicity of first-line chemotherapy. If initial total excision was feasible, postoperative chemotherapy of 4 to 6 courses were given. Three patients died of progressive disease, infection, and relapse 1 each. The median duration of follow-up for 20 survived patients was 94 months. The 5-year event-free and overall survival rates were 73.9%+/-9.2% (SE) and 87%+/-7.0%, respectively. Tumor recurred in 5 patients. The commonest toxicity was febrile neutropenia. There was no cardiotoxicity event. In conclusion, with sequential combination of surgery and chemotherapy, the treatment results for hepatoblastoma were satisfactory as compared with other groups.

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Type 1a glycogen storage disease with hepatoblastoma in siblings

Cited by 42 publications

References 9 publications

Effect of continuous glucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease

Effect of continuous glucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease

Hepatoblastoma in two siblings and familial adenomatous polyposis: causal nexus or coincidence?

Long-term Treatment Results of Hepatoblastoma at a Single Institution in Taiwan

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