Familial Hepatoblastoma and APC gene mutations: renewed call for molecular research

Thomas, Divya; Pritchard, Jon; McKiernan, PJ; Grundy, Richard G.; Goyet, Jean de Ville de

doi:10.1016/s0959-8049(03)00618-x

Cited by 47 publications

(35 citation statements)

References 27 publications

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“…In addition, recent reports have demonstrated that frequent mutation of the b-catenin gene and nuclear accumulation of its protein product are one of the main causes of the tumorigenesis of HBL. The APC and Axin genes are also mutated in some HBLs (Oda et al, 1996;Miao et al, 2003;Thomas et al, 2003), indicating that Wnt signaling pathway plays an important role in causing the tumors, most of which are AFP-positive. Therefore, the poor-prognostic HBL without producing AFP might be caused by the particular mechanism additional to or other than the abnormality of Wnt signaling pathway.…”

Section: Hbl Cdna Librariesmentioning

confidence: 99%

Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas

et al. 2004

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Section: Hbl Cdna Librariesmentioning

confidence: 99%

Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas

et al. 2004

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“…The peak age at onset is approximately 3 years, and the relative risk in FAP patients as compared to the general population is reported to be 176 to more than 420 153,154) . Imaging examinations, including abdominal ultrasonography are used for the diagnosis, and 90% of the patients have high levels of α-fetoprotein (AFP) 155) . CHRPE is known to be frequently associated with hepatoblastoma, and FAP patients with a family history of hepatoblastoma are known to be at a higher risk 156) .…”

Section: S22mentioning

confidence: 99%

Japanese Society for Cancer of the Colon and Rectum (JSCCR) Guidelines 2016 for the Clinical Practice of Hereditary Colorectal Cancer (Translated Version)

Ishida

Yamaguchi

Tanakaya

et al. 2018

J Anus Rectum Colon

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Hereditary colorectal cancer accounts for less than 5% of all colorectal cancer cases. Some of the unique characteristics that are commonly encountered in cases of hereditary colorectal cancer include early age at onset, synchronous/metachronous occurrence of the cancer, and association with multiple cancers in other organs, necessitating different management from sporadic colorectal cancer. While the diagnosis of familial adenomatous polyposis might be easy because usually 100 or more adenomas that develop in the colonic mucosa are in this condition, Lynch syndrome, which is the most commonly associated disease with hereditary colorectal cancer, is often missed in daily medical practice because of its relatively poorly defined clinical characteristics. In addition, the disease concept and diagnostic criteria for Lynch syndrome, which was once called hereditary non‐polyposis colorectal cancer, have changed over time with continual research, thereby possibly creating confusion in clinical practice. Under these circumstances, the JSCCR Guideline Committee has developed the “JSCCR Guidelines 2016 for the Clinical Practice of Hereditary Colorectal Cancer (HCRC)," to allow delivery of appropriate medical care in daily practice to patients with familial adenomatous polyposis, Lynch syndrome, or other related diseases. The JSCCR Guidelines 2016 for HCRC were prepared by consensus reached among members of the JSCCR Guideline Committee, based on a careful review of the evidence retrieved from literature searches, and considering the medical health insurance system and actual clinical practice settings in Japan. Herein, we present the English version of the JSCCR Guidelines 2016 for HCRC.

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“…Ortalama tanı yaşı 19 ay olarak bildirilmekte ve çoğu çocukluk çağı kanserleri gibi erkek çocuklarda 1-3 kat daha fazla görül-mektedir. Hastalık sporadik olarak görülebildiği gibi, Beckwith-Wiedemann sendromu, ailevi adenomatöz polipozis sendromları ile birliktelik gösterebilir (6) . Son yıllarda gerek Amerika Birleşik Devletleri Ulusal Kanser Enstitüsünün Sürveyans (SEER) verilerine ve gerek Japonya ve Avrupa raporlarına göre son 30 yılda yıllık insidansının arttığı görülmektedir (4) .…”

Section: Epidemiyolojiunclassified

“…Beckwith-Wiedemann sendromu, hemihipertrofi, Trizomi 18 (Edward's sendromu) ve ailevi adenomatöz polipozis olgularında hepatoblastom sıklığının arttığı bilinmektedir (6) . Sporadik olgularda ve ailevi adenomatöz polipozis olgularında beşinci kromozomda bulunan APC tümör baskılayıcı gende mutasyon saptanmıştır.…”

Section: Etiyolojiunclassified

A Rare Liver Tumor In Childhood; Hepatoblastoma

Ecevıt¹

2015

Buch

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ÖZETHepatoblastom, çocukluk çağında en sık görülen malign karaciğer tümörüdür. Son yıl-larda tanı ve tedavi konusundaki gelişmeler sayesinde uzun süreli yaşam olası hâle gelmiştir. Karında kitle ve yüksek alfa-fetoprotein varlığında hepatoblastomdan şüphele-nilmelidir. Ancak infantlarda alfa-fetoprotein yüksekliğini değerlendirirken yaşa göre normalleri göz önünde bulundurmak önemlidir. Tanı basamaklarında, karın ultrasonografisi ve bilgisayarlı tomografi veya manyetik rezonans görüntüleme gereklidir. Bu veriler ışığında hastalığın PRETEXT evresi belirlenir. Hastalığın en uygun yönetim stratejisi, bu radyolojik değerlendirmelerle başlar ve biyosi ve tümör rezeksiyonu ile devam eder. Uluslararası Çocukluk Çağı Karaciğer Tümörleri Strateji Grubu (SIOPEL) hepatoblastom tanısı alan tüm hastalara tümörün daha güvenle ve tama yakın çıkartı-labilmesi için preoperatif kemoterapi önermektedir. Parsiyel hepatektomi ile tam cerrahi rezeksiyon yapılamayan olgularda ise karaciğer nakli düşünülmelidir. Anahtar kelimeler: Çocuk, hepatoblastom, patoloji, genetik, tedavi ABSTRACTHepatoblastoma is the most common hepatic malignancy in children. In recent years, diagnosis and treatment have been improved in hepatoblastoma, and long survival has become possible. Intraabdominal mass and elevated alpha-fetoprotein level raise suspicion for hepatoblastoma. However, it is important to consider age-appropriate normal values when assessing alpha-fetoprotein levels in infancy. For the diagnostic steps, use of abdominal ultrasonography, and computed tomography or magnetic resonance imaging is required. In the light of these data, PRETEXT stage is determined. The appropriate surgical management strategy for hepatic tumors begins at the initial radiological assessment and continues through the processes of biopsy and tumor resection. The International Childhood Liver Tumor Strategy (SIOPEL) Group recommends preoperative chemotherapy in order to make the tumor more likely to be safely and completely resected. Liver transplantation must be considered when complete tumor excision by partial hepatectomy is unlikely. Derleme GİrİŞHepatoblastom, çocukluk çağında en sık görülen malign karaciğer tümörüdür (1) . Çocukluk çağı malign karaciğer tümörlerinin %75'ini oluşturur. Son 40 yılda, cerrahi tam rezeksiyonun gerçekleştirilebilme-si konusundaki ilerlemeler ve kemoterapi alanındaki gelişmeler sonucunda genel olarak yaşamda kalım oranları %30 düzeyinden %80'lere ulaşmıştır (2) . Bu derlemede, hepatoblastomun klinik özellikleri, değer-lendirme yöntemleri ve sağaltım yaklaşımları gözden geçirilecektir. EpidemiyolojiHepatoblastom (HB), çocukluk çağı kanserleri arasında ender görülmekle birlikte, karaciğer tümör-leri arasında ilk sırada yer almaktadır. Çoğunlukla bu İzmir Dr.

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Familial Hepatoblastoma and APC gene mutations: renewed call for molecular research

Cited by 47 publications

References 27 publications

Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas

Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas

Japanese Society for Cancer of the Colon and Rectum (JSCCR) Guidelines 2016 for the Clinical Practice of Hereditary Colorectal Cancer (Translated Version)

A Rare Liver Tumor In Childhood; Hepatoblastoma

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