Pediatric Gastrointestinal Tumors Research Articles

Imaging of pediatric gastrointestinal tumors: A tertiary center experience over 19 years

PurposeGastrointestinal tract (GIT) tumors in children are rare and there is a scarcity of data on their imaging features. The purpose of this study was to determine thefrequency of various GIT tumor types in children and to identify key imaging characteristics. MethodsThis retrospective, single-center study was approved by the local ethics committee. Children with histologically proven GIT tumours (malignantand benign) who had imaging available on the institutional PACS between May 1, 2000 and Dec 31, 2019 were included. Demographic data and available imaging was reviewed by two blinded radiologists. ResultsIn total, 90 children (45 male, mean age 9.3 ± 4.3 years) with GIT tumours were included. The final diagnoses included polyps (n = 28), lymphomas/PTLD (n = 27), neuroendocrine tumours (n = 16), adenocarcinoma (n = 6), adenoma (n = 5), gastrointestinal stromal tumor (GIST) (n = 3), inflammatory myofibroblastic tumours (n = 2) and lastly leiomyoblastoma, leiomyoma and lipoma (1 each). All GIT segments were affected, but overall the small and large bowel had most lesions. Eighty-one percent children had a single lesion while remaining 19 % had multiple lesions. The neoplastic process manifested as intra-luminal lesion (58 %) or wall thickening (42 %) on imaging. Multiple cystic areas and vascular pedicle for polyps; and hypoechogenecity of the mass or wall thickening and aneurysmal dilatation for lymphomas, were the characteristic imaging features. None of the neuroendocrine tumours affecting appendix were seen on pre-resection imaging. ConclusionsVariety of benign and malignant tumors are seen throughout the childhood. Polyps, lymphomas and appendiceal neuroendocrine tumors are common lesions. Characteristic imaging features of juvenile polyps and lymphomas on ultrasound may help narrowing the differentials, and guide further work up.

Latest Advances in the Management of Pediatric Gastrointestinal Stromal Tumors.

Simple SummaryThough gastrointestinal stromal tumor is the most common mesenchymal neoplasm of the gastrointestinal tract, it is a rare entity among pediatric patients. It is usually characterized by a different molecular biology, histology and clinical course. Therefore, different handling of pediatric GIST is needed. Herein, we review the latest updates to the management of pediatric gastrointestinal tumors with a particular focus on the advances in molecular biology of the disease and emerging treatment with kinase inhibitors that could serve as targeted therapy.Gastrointestinal stromal tumor is the most common mesenchymal neoplasm of the gastrointestinal tract, usually found in elderly adults. It is infrequent among pediatric patients and usually differs biologically from adult-type diseases presenting mutations of KIT and PDGFR genes. In this population, more frequent is the wild-type GIST possessing SDH, TRK, RAS, NF1 mutations, among others. Both tumor types require individualized treatment with kinase inhibitors that are still being tested in the pediatric population due to the different neoplasm biology. We review the latest updates to the management of pediatric gastrointestinal tumors with a particular focus on the advances in molecular biology of the disease that enables the definition of possible resistance. Emerging treatment with kinase inhibitors that could serve as targeted therapy is discussed, especially with multikinase inhibitors of higher generation, the effectiveness of which has already been confirmed in the adult population.

Spectrum of Pediatric gastrointestinal tumors with special reference to clinico-pathological findings.

Background: Alimentary tract malignancies in children are rare and the incidence is less than 1% of pediatric tumors. Rapid diagnosis is essential for early surgical intervention and adjuvant therapy in case of malignant tumors . Aims and Objectives: This study was undertaken to ascertain the clinical profile, anatomic distribution and histological subtypes of all pediatric gastrointestinal masses. Material and methods: This prospective study was conducted in tertiary care hospital from July 2010 to June 2015. Total 21 patients with clinically and radiologically detected gastrointestinal masses were evaluated. The data of every patients including age, sex and presenting symptoms were recorded. Resected specimens were obtained for histopathological examination and categorization was done according to WHO classification. Results: Among 21 cases, 16 were males (76.2%). The median age was 6 years. Maximum cases of benign lesions were mature teratoma (3 cases; 14.28%), followed by inflammatory myofibroblastic tumor (9.5%; 2 cases) and tuberculosis (9.5%; 2 cases) respectively. Other benign cases were pseudo lymphoma (9.5%; 2 cases), stomach GIST (4.8%; 1 cases) and carcinoid tumor (4.8%; 1 cases). Non- Hodgkin lymphoma (28.5%; 6 cases) was the most common malignancy.

Treating Rare Cancer in Children: The Importance of Evidence

The study of pediatric rare cancers, which account for approximately 9% of all childhood malignancies, has been hindered by their histologic heterogeneity and by their preferential occurrence in adolescents, a population that has been underrepresented in clinical trials sponsored by the National Cancer Institute. The use of cooperative group and investigator-initiated registries can help improve our ability to identify and select populations of patients with rare cancers that can benefit from single-arm studies, and incorporation of biologic aims and tissue banking can accelerate our understanding of the biology of these cancers. These studies should be promoted further through expansion of international outreach efforts. Well-designed preclinical models that accurately recapitulate human disease offer an attractive alternative to the study of rare cancers and may accelerate the process of target identification and drug discovery and development. The concept of specialized clinics for selected rare cancers has proven to be very successful in pediatric gastrointestinal tumors. This paradigm should be further explored in other rare cancers because it offers an unprecedented opportunity to collaborate closely with interested investigators. In addition, it offers patients an opportunity to discuss their disease with specialists, allows these patients to provide tissue for further research, and ultimately can promote the development of clinical trials that are unique for that specific disease.

Special considerations in pediatric gastrointestinal tumors

Pediatric gastrointestinal tumors are rare in children but are being increasingly recognized. These tumors have distinct biologic and clinical feature that are different from those observed in adults. This review highlights the biological and clinical characteristics of pediatric GIST and provides diagnostic and therapeutic guidelines for the management these unique and challenging group of tumors.

Hereditary cancer syndromes: If you look, you will find them

H ereditary cancer syndromes are estimated to account for up to 10% of all new cancer diagnoses in children and adults [1–4]. Given the current incidence of pediatric cancer, this translates to greater than 1,300 children in the United States and Canada diagnosed each year with a cancer related to a hereditary cancer syndrome. However, this widely quoted 10% rate is just an estimate extrapolated from the most common cancers known to be associated with inherited mutations and has not been systematically investigated. One publication last year described the population prevalence of familial cancer and common hereditary cancer syndromes based on 33,197 eligible respondents ages 18–64 years old in the 2005 California Health Interview Survey [5]. The investigators who conducted this survey assigned 14.6% of the cohort as having moderate familial risk associated with a twofold increase in cancer, and 7.7% of the cohort as having strong familial risk with a five to sevenfold increase in cancer. A similar type of population-based prevalence study to determine the true estimate of hereditary cancer in children has yet to be performed. Moreover, one could easily speculate that cancer in children is much more likely to be due to underlying genetic causes than in older adults who have diminishing DNA repair capability and longer environmental exposures. One of the best ways to identify children with an inherited cancer predisposition syndrome is to obtain an accurate family history. Due to the immediate life-threatening nature of a new cancer diagnosis in children (and its accompanying emotional toll), discussions with a newly diagnosed pediatric cancer patient’s family must focus on treatment strategies, and rightly so. Following a new cancer diagnosis, the coordination of staging CT scans, port placements, and chemotherapy orders often reduces the time needed for clinicians to obtain a very detailed cancer family history. However, collection of a more accurate family history ultimately could identify children and families who would benefit from a clinical cancer genetics referrals and even potentially participate in research. In addition to the family history, pediatric hereditary cancer syndromes can be suggested by a specific type of tumor or pattern of multiple cancers in a single individual [6–8]. For example, an extremely high percentage of patients with bilateral Wilms tumor will have a mutation in one of the WT genes (Wilms Tumor Syndrome). More than 80% of children with adrenocortical carcinomas (ACCs) will have TP53 germline mutations (Li-Fraumeni Syndrome), and this percentage is even higher in children with choroid plexus carcinomas. Eighty percent of children with bilateral retinoblastoma and 20% of children with unilateral retinoblastoma will have a germline mutation of the RB gene. Over 70% of pediatric patients with metastatic paragangliomas or pheochromocytomas may harbor underlying SDHB mutations (Familial Pheochromocytoma/Paraganglioma Syndrome). Approximately one-third of newly diagnosed patients with rhabdoid tumor will have an inherited INI1/SMARCB1 mutation (Rhabdoid Predisposition Syndrome). Twelve percent of pediatric gastrointestinal tumors (GISTs) have been described to have mutations in one of the SDH genes. Even hepatoblastoma has been associated with a 10% risk of carrying an APC mutation (Familial Adenomatous Polyposis [FAP] Syndrome). Cancers diagnosed in children that are usually seen in older adults such as colorectal or thyroid cancer also can indicate an inherited cancer predisposition syndrome. The list of pediatric tumors associated with hereditary cancer syndromes seems to grow longer every day. In this issue of Pediatric Blood & Cancer, Knapke et al. publish one of the first systematic pediatric hereditary cancer risk assessments by embedding a certified genetic counselor within a pediatric oncology follow-up clinic. Using this approach, they accurately determined the total percentage of 370 childhood cancer survivors who were appropriate for referral for cancer genetic screening. As Knapke and her colleagues report, with the help of their dedicated genetic counselor, they could identify a surprising 29% of childhood cancer survivors who qualified for genetic counseling. The majority of these referrals (61%) were based on family history, while tumor type accounted for 18%. The study was not designed to determine the mutation results for the 109 patients eligible for genetic testing, so we do not know how many referrals actually resulted in a hereditary cancer syndrome diagnosis for patients or their families. Nevertheless, the fact that they found over a quarter of all childhood cancer survivor patients met eligibility for cancer genetics referrals is remarkable. Moreover, this study population consisted of patients at least 5 years from their diagnosis and may underestimate the true percentage of pediatric patients eligible for genetic testing due to early deaths of certain patients. For instance, no patients were identified for