scholarly journals Hepatoblastomas with carcinoma features (HBCs) represent a biological spectrum of aggressive neoplasms in children and young adults

2021 ◽  
Author(s):  
Pavel Sumazin ◽  
Dolores Lopez-Terrada
Keyword(s):  
Molecular Characteristics ◽  
Molecular Testing ◽  
Single Institution ◽  
Liver Malignancies ◽  
Histological Features ◽  
Not Otherwise Specified ◽  
Children And Young Adults ◽  
Aggressive Tumors ◽  
Biological Spectrum ◽  
Classification And Treatment

Malignant hepatocellular cancers are the most common primary liver malignancies in children, and hepatoblastomas (HBs) account for more than two-thirds of these cases. While most HBs respond to chemotherapy and have favorable outcomes, the 3-year overall survival rate for high-risk HBs is below 50% and guidelines for their classification and treatment are still evolving. HB risk-stratification efforts using clinical, histological, and molecular parameters have been reported to help identify patients that require more or less aggressive therapies in retrospective studies, and are being validated in clinical trials. However, risk assessment is particularly challenging for cancers with certain histologies, including tumors in the recently proposed provisional hepatocellular neoplasm not otherwise specified (HCN NOS) category. HCN NOSs exhibit either intermediate or combined HB and hepatocellular carcinoma (HCC) histological features, and while neoplasms with such features were observed over a decade ago, only a handful have been characterized and little is known about their biology and clinical features. Here, we molecularly characterized a series of clinically annotated HCN NOSs that demonstrated either intermediate HB/HCC histology or distinct coexisting areas with HB and HCC histological features. In addition, molecular profiling of HBs demonstrating focal pleomorphism or anaplasia (HB FPA) after chemotherapy revealed underlying biological features previously observed in HCCs. Our study suggested that HCN NOSs and HB FPAs are aggressive tumors, irrespective of patient age or resectability. Consequently, we designated them collectively as HBs with carcinoma features (HBCs) and outlined histological and molecular characteristics for their diagnosis and treatment. In our single-institution study, transplanted HBC patients were significantly and more than twice as likely to have good outcomes, highlighting the importance of molecular testing and aggressive early intervention.

scholarly journals Clinical, Biochemical and Molecular Profile of Variant Galactosemia in Children Detected by National Newborn Screening: A Pilot Study

2017 ◽  
Vol 51 (3) ◽  
Author(s):  
Sylvia Capistrano-Estrada ◽  
Daffodil M. Canson ◽  
Catherine Lynn T. Silao
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Molecular Profile ◽  
Molecular Characteristics ◽  
Molecular Testing ◽  
Variant Form ◽  
Limited Information ◽  
Coding Region ◽  
Total Blood ◽  
Galt Activity

Objective. The observed irregularities in the biochemical profile and the limited information on long-term outcomes among patients with Duarte variant (D/G) galactosemia have led to patient management variability. This study examined the molecular characteristics of Filipino patients with presumed variant galactosemia for confirmation of diagnosis. It also aimed to describe the corresponding biochemical, clinical and neurodevelopmental profiles in order to gain a better understanding of the patients with normal galactose metabolites in spite of low to absent GALT activity detected by the local newborn screening program. Methods. Thirteen (13) patients who were presumed to have a variant form of galactosemia by national newborn screening between 2002 and 2010, and who previously underwent physical and neurodevelopmental assessment were included in the study. Repeat clinical, ophthalmologic and neurodevelopmental evaluations were done upon recruitment of participants. Direct sequence analysis of the coding region of the GALT gene was conducted to determine the patients’ genotypes. Results. None of the patients’ genotypes were consistent with Duarte variant (D/G) galactosemia. Their genotypes reflect the normal total blood galactose levels in patients, but were inconsistent with the absent or trace GALT activity. Conclusion. Molecular testing for the entire cohort of presumed “variant” galactosemia Filipino patients will provide better profiling of this condition. Re-evaluation and assessment of the current guidelines used by national newborn screening in classifying variant galactosemia are recommended.

Unique clinicopathologic and molecular characteristics of urinary bladder tumors in children and young adults

2013 ◽  
Vol 31 (4) ◽  
pp. 414-426 ◽  
Author(s):  
Sean R. Williamson ◽  
Antonio Lopez-Beltran ◽  
Gregory T. MacLennan ◽  
Rodolfo Montironi ◽  
Liang Cheng
Keyword(s):  
Young Adults ◽  
Urinary Bladder ◽  
Molecular Characteristics ◽  
Bladder Tumors ◽  
Children And Young Adults

The Ross Operation in Children and Young Adults: A Fifteen-Year, Single-Institution Experience

2011 ◽  
Vol 91 (6) ◽  
pp. 1936-1942 ◽  
Author(s):  
Joseph B. Clark ◽  
Linda B. Pauliks ◽  
Ashley Rogerson ◽  
Allen R. Kunselman ◽  
John L. Myers
Keyword(s):  
Young Adults ◽  
Single Institution ◽  
Ross Operation ◽  
Children And Young Adults

scholarly journals Managing sarcoma: where have we come from and where are we going?

2017 ◽  
Vol 9 (10) ◽  
pp. 637-659 ◽  
Author(s):  
Jenna S. Bleloch ◽  
Reyna D. Ballim ◽  
Serah Kimani ◽  
Jeannette Parkes ◽  
Eugenio Panieri ◽  
...  
Keyword(s):  
Molecular Mechanisms ◽  
Single Agent ◽  
Treatment Strategies ◽  
Specific Treatment ◽  
Primary Treatment ◽  
Response To Treatment ◽  
Molecular Characteristics ◽  
Mortality And Morbidity ◽  
Children And Young Adults ◽  
Robust Response

Sarcomas are a heterogeneous group of neoplasms of mesenchymal origin. Approximately 80% arise from soft tissue and 20% originate from bone. To date more than 100 sarcoma subtypes have been identified and they vary in molecular characteristics, pathology, clinical presentation and response to treatment. While sarcomas represent <1% of adult cancers, they account for approximately 21% of paediatric malignancies and thus pose some of the greatest risks of mortality and morbidity in children and young adults. Metastases occur in one-third of all patients and approximately 10–20% of sarcomas recur locally. Surgery in combination with preoperative and postoperative therapies is the primary treatment for localized sarcoma tumours and is the most promising curative possibility. Metastasized sarcomas, on the other hand, are treated primarily with single-agent or combination chemotherapy, but this rarely leads to a complete and robust response and often becomes a palliative form of treatment. The heterogeneity of sarcomas results in variable responses to current generalized treatment strategies. In light of this and the lack of curative strategies for metastatic and unresectable sarcomas, there is a need for novel subtype-specific treatment strategies. With the more recent understanding of the molecular mechanisms underlying the pathogenesis of some of these tumours, the treatment of sarcoma subtypes with targeted therapies is a rapidly evolving field. This review discusses the current management of sarcomas as well as promising new therapies that are currently underway in clinical trials.

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