First-decade patient with colorectal cancer carrying both germline and somatic mutations in APC gene

Yeh, Yung‐Sung; Chang, Yu‐Tang; Ma, Cheng‐Jen; Huang, Ching-Wen; Tsai, Hsiang-Lin; Chen, Yi-Ting; Wang, Jaw‐Yuan

doi:10.1186/s12885-017-3878-0

Cited by 4 publications

(4 citation statements)

References 13 publications

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“…CRC rarely occurs in children and adolescents who are less than 20 years old. There are some case reports and small cohorts of child and adolescent CRCs (Shankar et al 1999 ; Andersson et al 1976 ; Ahn et al 2017 ; Yang et al 2015 ; Koh et al 2015 ; Yeh et al 2017 ; Vastyan et al 2001 ; Noh et al 2013 ), but there were only three cohorts (Sultan et al 2010 ; Yang et al 2010 ; Hill et al 2007 ) with more than 50 patients found on PubMed, two of which were from the Surveillance, Epidemiology, and End Results (SEER) database. According to SEER statistics in the USA (Sultan et al 2010 ), the age-adjusted incidence rate of CRC in children and adolescents was only 0.38 per million, and only 159 CRCs occurred in children and adolescents between January 1973 and December 2005.…”

Section: Discussionmentioning

confidence: 99%

Colorectal cancer under 20 years old: a retrospective analysis from three tertiary hospitals

Zhou

Xiao

Wang

et al. 2020

J Cancer Res Clin Oncol

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Purpose Colorectal cancer (CRC) rarely occurs in children and adolescents. This study aimed to perform a retrospective analysis and disclose more detailed information about CRC in patients under 20 years old. Methods Medical records of CRCs in patients under 20 years old referred to three tertiary hospitals in China from September 2000 to July 2019 were retrospectively reviewed. Clinicopathological characteristics, treatment processes and laboratory findings were summarized and treatment outcomes and prognostic factors were analyzed. Results A total of 33,394 CRC medical records were analyzed, and we identified seventy (0.21%) CRCs in patients under 20. The most common primary tumor location was the left hemicolon (35.7%). The prominent pathological types were mucinous adenocarcinoma (22.9%) and signet ring cell carcinoma (22.9%). Nearly half (47.1%) of the patients presented with distant metastasis at diagnosis. The fractions of patients with deficient mismatch repair (dMMR) protein expression and microsatellite instability-high (MSI-H) were 23.8% (5/21) and 71.4% (5/7), respectively. Forty-four patients underwent radical surgery. Fifty-five patients received chemotherapy and six patients received radiotherapy. One dMMR/MSI-H rectal cancer patient received immunotherapy and achieved a clinically complete response. The median overall survival (OS) time was 80 months. The 3-year and 5-year OS rates were 61.8% and 57.2%, respectively. An absence of distant metastasis was a favorable factor for OS. For stage II/III CRCs, classic adenocarcinoma and radical surgery were favorable factors for OS. For stage IV CRCs, primary location at the colon was a favorable factor for OS. Conclusion Child and adolescent CRC patients are likely to have distant metastasis, undifferentiated, left hemicolon location, and a dMMR/MSI-H phenotype at diagnosis. Additional efforts are needed to improve their survival outcomes.

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Section: Discussionmentioning

confidence: 99%

Colorectal cancer under 20 years old: a retrospective analysis from three tertiary hospitals

Zhou

Xiao

Wang

et al. 2020

J Cancer Res Clin Oncol

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“…An integrated DNA and RNA variant detection software tool (CLC) was utilized that is similar in scope to the Proteome Discoverer software tool used by mass spectrometrists that does not require computational coding [59]. This democratizes DNA and RNA variant detection to the life-science community, from the plant sciences community through to the field of human disease [60][61][62][63][64][65].…”

Section: Discussionmentioning

confidence: 99%

An integrated DNA and RNA variant detector identifies a highly conserved three base exon in the MAP4K5 kinase locus

et al. 2021

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“…Since then, accumulated evidence has confirmed that an over activation of this molecular pathway leads to the formation of adenomas and, subsequently, to the development of colon carcinoma. In fact, 90% of colon carcinoma patients present acquired mutations in APC, and these mutations determine differences in the location of tumors along the large intestine (82, 83). Of interest, the reversible knockdown of APC with shRNA in a murine model of carcinogenesis promotes regression from an adenoma to normal tissue, which highlights the importance of this pathway in the maintenance of the tumor (84).…”

Section: Wnt Pathway In Cancermentioning

confidence: 99%

Macrophages as an Emerging Source of Wnt Ligands: Relevance in Mucosal Integrity

2019

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The Wnt signaling pathway is a conserved pathway involved in important cellular processes such as the control of embryonic development, cellular polarity, cellular migration, and cell proliferation. In addition to playing a central role during embryogenesis, this pathway is also an essential part of adult homeostasis. Indeed, it controls the proliferation of epithelial cells in different organs such as intestine, lung, and kidney, and guarantees the maintenance of the mucosa in physiological conditions. The origin of this molecular pathway is the binding between Wnt ligands (belonging to a family of 19 different homologous secreted glycoproteins) and their specific membrane receptors, from the Frizzled receptor family. This specific interaction triggers the activation of the signaling cascade, which in turn activates or suppresses the expression of different genes in order to change the behavior of the cell. On the other hand, alterations of this pathway have been described in pathological conditions such as inflammation, fibrosis, and cancer. In recent years, macrophages—among other cell types—have emerged as a potential source of Wnt ligands. Due to their high plasticity, macrophages, which are central to the innate immune response, are capable of adopting different phenotypes depending on their microenvironment. In the past, two different phenotypes were described: a proinflammatory phenotype—M1 macrophages—and an anti-inflammatory phenotype—M2 macrophages—and a selective expression of Wnt ligands has been associated with said phenotypes. However, nowadays it is assumed that macrophages in vivo move through a continual spectrum of functional phenotypes. In both physiological and pathological (inflammation, fibrosis and cancer) conditions, the accumulation and polarization of macrophages conditions the future of the tissue, facilitating various scenarios, such as resolution of inflammation, activation of fibrosis, and cancer development due to the modulation of the Wnt signaling pathway, in autocrine and paracrine manner. In this work, we provide an overview of studies that have explored the role of macrophages and how they act as a source of Wnt ligands and as mediators of mucosal integrity.

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First-decade patient with colorectal cancer carrying both germline and somatic mutations in APC gene

Cited by 4 publications

References 13 publications

Colorectal cancer under 20 years old: a retrospective analysis from three tertiary hospitals

Colorectal cancer under 20 years old: a retrospective analysis from three tertiary hospitals

An integrated DNA and RNA variant detector identifies a highly conserved three base exon in the MAP4K5 kinase locus

Macrophages as an Emerging Source of Wnt Ligands: Relevance in Mucosal Integrity

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