Kabuki syndrome and cancer in two patients

Tumino, Manuela; Licciardello, Maria; Sorge, Giovanni; Cutrupi, Maria Concetta; Benedetto, Fabrizio Di; Amoroso, Loredana; Catania, Roberta; Pennisi, Monica; D’Amico, Salvatore; Cataldo, Andrea Di

doi:10.1002/ajmg.a.33405

Cited by 27 publications

(20 citation statements)

References 20 publications

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“…Until now, 6 Kabuki patients have been described that developed different types of cancer including pre-B-ALL, 70 hepatoblastoma, 71 neuroblastoma, 71 , 72 Burkitt lymphoma, 73 and fibromyxoid sarcoma 74 marking the Kabuki syndrome as a cancer predisposition syndrome.…”

Section: Constitutional Utx Defects Cause the Kabuki Syndromementioning

confidence: 99%

The H3K27me3 demethylase UTX in normal development and disease

2014

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In 2007, the Ubiquitously Transcribed Tetratricopeptide Repeat on chromosome X (UTX) was identified as a histone demethylase that specifically targets di- and tri-methyl groups on lysine 27 of histone H3 (H3K27me2/3). Since then, UTX has been proven essential during normal development, as it is critically required for correct reprogramming, embryonic development and tissue-specific differentiation. UTX is a member of the MLL2 H3K4 methyltransferase complex and its catalytic activity has been linked to regulation of HOX and RB transcriptional networks. In addition, an H3K27me2/3 demethylase independent function for UTX was uncovered in promoting general chromatin remodeling in concert with the BRG1-containing SWI/SNF remodeling complex. Constitutional inactivation of UTX causes a specific hereditary disorder called the Kabuki syndrome, whereas somatic loss of UTX has been reported in a variety of human cancers. Here, we compile the breakthrough discoveries made from the first disclosure of UTX as a histone demethylase till the identification of disease-related UTX mutations and specific UTX inhibitors.

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Section: Constitutional Utx Defects Cause the Kabuki Syndromementioning

confidence: 99%

The H3K27me3 demethylase UTX in normal development and disease

2014

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“…A single study showed that approximately 10% of children with HB carry germline mutations of APC (Aretz et al, ). HB also occurs in patients with Beckwith–Wiedemann syndrome (Mussa et al, ) and Simpson–Golabi–Behmel syndrome (Kosaki et al, ), and has been described in a few patients with Sotos syndrome (Kato et al, ), Kabuki syndrome ( KMT2D ; coding for histone methyltransferase; MIM 147920) (Tumino et al, ), Li–Fraumeni syndrome (Nichols, Malkin, Garber, & Li, ; Yoshida et al, ), and neurofibromatosis 1 (Ucar, Caliskan, Toy, & Gunel, ). Hepatoblastoma has also been rarely described in RASopathies, for example, Noonan syndrome (Yoshida, Ogata, Masawa, & Nagai, ) and cardiofaciocutaneous (CFC) syndrome ( BRAF ; MIM 115150) (Al‐Rahawan et al, ).…”

Section: Typical Childhood Cancer Types and Relevant Cpsmentioning

confidence: 99%

Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

Ripperger

Bielack

Borkhardt

et al. 2017

American J of Med Genetics Pt A

218

184

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Heritable predisposition is an important cause of cancer in children and adolescents. Although a large number of cancer predisposition genes and their associated syndromes and malignancies have already been described, it appears likely that there are more pediatric cancer patients in whom heritable cancer predisposition syndromes have yet to be recognized. In a consensus meeting in the beginning of 2016, we convened experts in Human Genetics and Pediatric Hematology/Oncology to review the available data, to categorize the large amount of information, and to develop recommendations regarding when a cancer predisposition syndrome should be suspected in a young oncology patient. This review summarizes the current knowledge of cancer predisposition syndromes in pediatric oncology and provides essential information on clinical situations in which a childhood cancer predisposition syndrome should be suspected.

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“…Patients 1 and 2 (Table 1) have been reported previously: the first for chemoembolization prior to surgery and the second due to the presence of Kabuki syndrome [13,14]. Neoadjuvant chemotherapy for hepatoblastoma and hepatocarcinoma patients, according to SIOPEL protocols, consisted in 4-10 courses (median, 4.5) of different combinations of cisplatin, doxorubicin, and carboplatin.…”

Section: Preoperative Managementmentioning

confidence: 99%

Evaluation of Neoadjuvant Chemotherapy Effects on Liver Parenchyma in Resected Pediatric Malignancies

Scuderi¹,

Magro²,

Cataldo³

et al. 2013

Pediatric Hematology and Oncology

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Neoadjuvant chemotherapy for colorectal liver metastases in adults is responsible for chemotherapy-associated liver injury (CALI), characterized by steatosis, steatohepatitis, and sinusoidal obstruction syndrome. These alterations cause delayed operation to reduce the risk of hemorrhage, portal hypertension, and hepatic failure. Children with hepatic malignancies usually receive neoadjuvant chemotherapy prior to surgery. The aim of this study was to evaluate retrospectively whether the CALI occurs in this pediatric population. This study evaluated patients referred since 1996 for hepatic malignancies who received hepatectomy after chemotherapy. Liver resection material was reviewed, in order to investigate the presence of morphological changes compatible with the CALI in the peritumoral hepatic tissue. Twelve patients were recruited. All patients satisfied the inclusion criteria except one who did not receive neoadjuvant chemotherapy. Eleven children underwent surgery 1 month after the last chemotherapy cycle. All are alive disease-free. Histological examination of specimen revealed only mild changes such as diffuse swelling of hepatocytes and focal, mild portal inflammation. Severe hepatic changes such as steatosis, necrosis, or fibrosis were not identified. CALI-related morphological changes were not found in our patients. The absence of the CALI could be attributed to the younger age of patients (possible different response to stress) and/or to the different chemotherapy schedules compared to those in use for adults patients.

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Kabuki syndrome and cancer in two patients

Cited by 27 publications

References 20 publications

The H3K27me3 demethylase UTX in normal development and disease

The H3K27me3 demethylase UTX in normal development and disease

Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

Evaluation of Neoadjuvant Chemotherapy Effects on Liver Parenchyma in Resected Pediatric Malignancies

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