Case report of ascending colon cancer and multiple jejunal GISTs in a patient with neurofibromatosis type 1 (NF1).

Abstract:

BACKGROUND:NF1(Neurofibromatosis type 1) is an autosomal dominant genetic disorder. Patients with NF1 have an increased risk of developing benign or malignant tumours, such as gastrointestinal stromal tumours (GISTs). However, the coexistence of NF1, GIST and colon cancer is very rare, and few cases have been reported in the literature. CASE PRESENTATION:We admitted a case of a 64-year-old man with type 1 neurofibromatosis, GISTs, and ascending colon cancer. This case was characterized by café-au-lait macules, discrete cutaneous neurofibromas, nodular neurofibromas, multiple jejunal tumours, and ascending colon cancer. Laparoscopic exploration revealed ascending colon cancer and multiple jejunal tumours. Laparoscopic right hemicolectomy and local excision of the jejunal tumours were performed successfully. The pathological results confirmed moderate differentiated adenocarcinoma of the ascending colon with multiple jejunal GISTs (low risk, very low risk). Moreover, the immunohistochemistry results of multiple jejunal GISTs suggest that NF1 is positive. Whole-exome sequencing (WES) of colon cancer revealed mutations in more than 20 genes, including KRAS, PIK3CA, APC, SMAD4, etc. The results of whole-exome sequencing (WES) of jejunal GISTs revealed an NF1 mutation and no KIT or PDGFR gene mutation. CONCLUSION:We report a rare case of simultaneous NF1, GIST and colon adenocarcinoma. For patients with NF1, benign and/or malignant tumours are often combined. Therefore, these patients should undergo regular physical examinations so that early detection and early treatment can be achieved.

journal_name

BMC Cancer

journal_title

BMC cancer

authors

Shang L,Fang Z,Liu J,Du F,Jing H,Xu Y,Dong K,Zhang X,Wu H,Jing C,Li L

doi

10.1186/s12885-019-6375-9

subject

Has Abstract

pub_date

2019-12-05 00:00:00

pages

1196

issue

1

issn

1471-2407

pii

10.1186/s12885-019-6375-9

journal_volume

19

pub_type

杂志文章
  • Sequential analysis of transcript expression patterns improves survival prediction in multiple cancers.

    abstract:BACKGROUND:Long-term survival in numerous cancers often correlates with specific whole transcriptome profiles or the expression patterns of smaller numbers of transcripts. In some instances, these are better predictors of survival than are standard classification methods such as clinical stage or hormone receptor statu...

    journal_title:BMC cancer

    pub_type: 杂志文章

    doi:10.1186/s12885-020-06756-x

    authors: Mandel J,Avula R,Prochownik EV

    更新日期:2020-04-07 00:00:00

  • Does D3 surgery offer a better survival outcome compared to D1 surgery for gastric cancer? A result based on a hospital population of two decades as taking D2 surgery for reference.

    abstract:BACKGROUND:We conducted a retrospective study in our hospital in which we compared D1 with D3 through D2 lymphadenectomy for gastric cancer in terms of morbidity, postoperative mortality, long-term survival after surgery. METHODS:567 patients who were performed curative intent between 1980 and 2003 were enrolled. 187 ...

    journal_title:BMC cancer

    pub_type: 杂志文章

    doi:10.1186/1471-2407-10-308

    authors: Zhang H,Liu C,Wu D,Meng Y,Song R,Lu P,Wang S

    更新日期:2010-06-20 00:00:00

  • A novel circular invasion assay mimics in vivo invasive behavior of cancer cell lines and distinguishes single-cell motility in vitro.

    abstract:BACKGROUND:Classical in vitro wound-healing assays and other techniques designed to study cell migration and invasion have been used for many years to elucidate the various mechanisms associated with metastasis. However, many of these methods are limited in their ability to achieve reproducible, quantitative results th...

    journal_title:BMC cancer

    pub_type: 杂志文章

    doi:10.1186/1471-2407-8-198

    authors: Kam Y,Guess C,Estrada L,Weidow B,Quaranta V

    更新日期:2008-07-14 00:00:00

  • Cancer risk in East Asian patients associated with acquired haemolytic anaemia: a nationwide population-based cohort study.

    abstract:BACKGROUND:This study investigated whether patients with acquired haemolytic anaemia (AHA) would have elevated cancer risk including that for non-haematological solid tumours. We further examined whether the cancer risk would be different between patients with autoimmune type AHA (AIHA) and patients of non-AIHA. METHO...

    journal_title:BMC cancer

    pub_type: 杂志文章

    doi:10.1186/s12885-016-2098-3

    authors: Kok VC,Sung FC,Kao CH,Lin CC,Tseng CH

    更新日期:2016-02-04 00:00:00

  • Development and validation of the comprehensive assessment scale for chemotherapy-induced peripheral neuropathy in survivors of cancer.

    abstract:BACKGROUND:Appropriate assessment is essential for the management of chemotherapy-induced peripheral neuropathy (CIPN), an intractable symptom that cannot yet be palliated, which is high on the list of causes of distress for cancer patients. However, objective assessment by medical staff makes it easy to underestimate ...

    journal_title:BMC cancer

    pub_type: 杂志文章

    doi:10.1186/s12885-019-6113-3

    authors: Kanda K,Fujimoto K,Mochizuki R,Ishida K,Lee B

    更新日期:2019-09-10 00:00:00

  • Unusual bilateral ovarian metastases from ileal gastrointestinal stromal tumor (GIST): a case report.

    abstract:BACKGROUND:Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors of the gastrointestinal tract and liver and peritoneum are the main sites of recurrence. Ovarian metastases from GIST are very rare. CASE PRESENTATION:A 50 years-old woman was found to have a pelvic mass on transvaginal ultrasound...

    journal_title:BMC cancer

    pub_type: 杂志文章

    doi:10.1186/s12885-018-4204-1

    authors: De Leo A,Nannini M,Dondi G,Santini D,Urbini M,Gruppioni E,De Iaco P,Perrone AM,Pantaleo MA

    更新日期:2018-03-16 00:00:00

  • Return to work after cancer treatment of gynecologic cancer in Japan.

    abstract:BACKGROUND:Gynecologic cancer is one of the most common malignant diseases in working-age women. This study investigated whether several characteristics influence return to work after treatment of gynecologic cancer. METHODS:We investigated the correlations between return to work and several other characteristics in 1...

    journal_title:BMC cancer

    pub_type: 杂志文章

    doi:10.1186/s12885-016-2627-0

    authors: Nakamura K,Masuyama H,Nishida T,Haraga J,Ida N,Saijo M,Haruma T,Kusumoto T,Seki N,Hiramatsu Y

    更新日期:2016-07-29 00:00:00

  • Modeling the effect of age in T1-2 breast cancer using the SEER database.

    abstract:BACKGROUND:Modeling the relationship between age and mortality for breast cancer patients may have important prognostic and therapeutic implications. METHODS:Data from 9 registries of the Surveillance, Epidemiology, and End Results Program (SEER) of the United States were used. This study employed proportional hazards...

    journal_title:BMC cancer

    pub_type: 杂志文章

    doi:10.1186/1471-2407-5-130

    authors: Tai P,Cserni G,Van De Steene J,Vlastos G,Voordeckers M,Royce M,Lee SJ,Vinh-Hung V,Storme G

    更新日期:2005-10-08 00:00:00

  • Influence of pain severity on the quality of life in patients with head and neck cancer before antineoplastic therapy.

    abstract:BACKGROUND:The aim of this study was to assess the severity of pain and its impact on the quality of life (QoL) in untreated patients with head and neck squamous cell carcinoma (HNSCC). METHODS:A study group of 127 patients with HNSCC were interviewed before antineoplastic treatment. The severity of pain was measured ...

    journal_title:BMC cancer

    pub_type: 杂志文章

    doi:10.1186/1471-2407-14-39

    authors: Oliveira KG,von Zeidler SV,Podestá JR,Sena A,Souza ED,Lenzi J,Bissoli NS,Gouvea SA

    更新日期:2014-01-24 00:00:00

  • Osteopontin and thrombospondin-1 play opposite roles in promoting tumor aggressiveness of primary resected non-small cell lung cancer.

    abstract:BACKGROUND:Osteopontin (OPN) and thrombospondin-1 (TSP-1) are extracellular matrix proteins secreted by stromal and tumor cells. These proteins appear to have a key role in the tumor microenvironment for cancer development and metastasis. There is little information regarding the prognostic value of the combination of ...

    journal_title:BMC cancer

    pub_type: 杂志文章

    doi:10.1186/s12885-016-2541-5

    authors: Rouanne M,Adam J,Goubar A,Robin A,Ohana C,Louvet E,Cormier J,Mercier O,Dorfmüller P,Fattal S,de Montpreville VT,Lebret T,Dartevelle P,Fadel E,Besse B,Olaussen KA,Auclair C,Soria JC

    更新日期:2016-07-15 00:00:00

  • Differential knockdown of TGF-β ligands in a three-dimensional co-culture tumor- stromal interaction model of lung cancer.

    abstract:BACKGROUND:Transforming growth factor (TGF)-β plays a pivotal role in cancer progression through regulating cancer cell proliferation, invasion, and remodeling of the tumor microenvironment. Cancer-associated fibroblasts (CAFs) are the predominant type of stromal cell, in which TGF-β signaling is activated. Among the s...

    journal_title:BMC cancer

    pub_type: 杂志文章

    doi:10.1186/1471-2407-14-580

    authors: Horie M,Saito A,Noguchi S,Yamaguchi Y,Ohshima M,Morishita Y,Suzuki HI,Kohyama T,Nagase T

    更新日期:2014-08-09 00:00:00

  • Health profiles of 996 melanoma survivors: the M. D. Anderson experience.

    abstract:BACKGROUND:The incidence and survival of melanoma are increasing, but little is known about its long-term health effects in adult survivors. METHODS:A health survey was available from 996 melanoma survivors (577 treated with surgery alone, and 391 with combined treatments). Their medical/physiologic and psychosocial r...

    journal_title:BMC cancer

    pub_type: 杂志文章

    doi:10.1186/1471-2407-6-95

    authors: Stava C,Beck M,Weiss LT,Lopez A,Vassilopoulou-Sellin R

    更新日期:2006-04-18 00:00:00

  • Increased expression of colony stimulating factor-1 is a predictor of poor prognosis in patients with clear-cell renal cell carcinoma.

    abstract:BACKGROUND:This study aims to evaluate the impact of colony stimulating factor-1 (CSF-1) expression on recurrence and survival of patients with clear-cell renal cell carcinoma (ccRCC) following surgery. METHODS:We retrospectively enrolled 267 patients (195 in the training cohort and 72 in the validation cohort) with c...

    journal_title:BMC cancer

    pub_type: 杂志文章

    doi:10.1186/s12885-015-1076-5

    authors: Yang L,Wu Q,Xu L,Zhang W,Zhu Y,Liu H,Xu J,Gu J

    更新日期:2015-02-18 00:00:00

  • Gastric Helicobacter pylori infection associates with an increased risk of colorectal polyps in African Americans.

    abstract:BACKGROUND:Gastric Helicobacter pylori (H. pylori) infection and colorectal polyps are more prevalent in African Americans than in the general population. We aimed to investigate whether gastric H. pylori infection is associated with colorectal polyps in African Americans. METHODS:Medical records of African Americans,...

    journal_title:BMC cancer

    pub_type: 杂志文章

    doi:10.1186/1471-2407-14-296

    authors: Brim H,Zahaf M,Laiyemo AO,Nouraie M,Pérez-Pérez GI,Smoot DT,Lee E,Razjouyan H,Ashktorab H

    更新日期:2014-04-28 00:00:00

  • Resectable adenocarcinomas in the pancreatic head: the retroperitoneal resection margin is an independent prognostic factor.

    abstract:BACKGROUND:The retroperitoneal margin is frequently microscopically tumour positive in non-curative periampullary adenocarcinoma resections. This margin should be evaluated by serial perpendicular sectioning. The aim of the study was to determine whether retroperitoneal margin involvement independently predicts surviva...

    journal_title:BMC cancer

    pub_type: 杂志文章

    doi:10.1186/1471-2407-8-5

    authors: Westgaard A,Tafjord S,Farstad IN,Cvancarova M,Eide TJ,Mathisen O,Clausen OP,Gladhaug IP

    更新日期:2008-01-14 00:00:00

  • Reproductive factors and risk of hormone receptor positive and negative breast cancer: a cohort study.

    abstract:BACKGROUND:The association of reproductive factors with hormone receptor (HR)-negative breast tumors remains uncertain. METHODS:Within the EPIC cohort, Cox proportional hazards models were used to describe the relationships of reproductive factors (menarcheal age, time between menarche and first pregnancy, parity, num...

    journal_title:BMC cancer

    pub_type: 杂志文章,多中心研究

    doi:10.1186/1471-2407-13-584

    authors: Ritte R,Tikk K,Lukanova A,Tjønneland A,Olsen A,Overvad K,Dossus L,Fournier A,Clavel-Chapelon F,Grote V,Boeing H,Aleksandrova K,Trichopoulou A,Lagiou P,Trichopoulos D,Palli D,Berrino F,Mattiello A,Tumino R,Sacerdote

    更新日期:2013-12-09 00:00:00

  • Chemotherapy with cisplatin and vinorelbine for elderly patients with locally advanced or metastatic non-small-cell lung cancer (NSCLC).

    abstract:BACKGROUND:Although modest improvements in the survival of patients with non-small cell lung cancer (NSCLC) can be achieved with cisplatin-based chemotherapy (CT), its value is disputed in the geriatric setting. In this study, we evaluate the feasibility of vinorelbine/cisplatin CT for elderly NSCLC patients. METHODS:...

    journal_title:BMC cancer

    pub_type: 临床试验,杂志文章

    doi:10.1186/1471-2407-4-69

    authors: Pereira JR,Martins SJ,Nikaedo SM,Ikari FK

    更新日期:2004-09-29 00:00:00

  • Thyroid transcription factor-1 as a prognostic indicator for stage IV lung adenocarcinoma with and without EGFR-sensitizing mutations.

    abstract:BACKGROUND:Thyroid transcription factor (TTF)-1 expression is a diagnostic marker and a good prognostic indicator for lung adenocarcinoma. However, its good prognostic ability might be due to epidermal growth factor receptor (EGFR)-sensitizing mutations as shown by the positive correlation between TTF-1 expression and ...

    journal_title:BMC cancer

    pub_type: 杂志文章

    doi:10.1186/s12885-019-5792-0

    authors: Park JY,Jang SH,Kim HI,Kim JH,Park S,Hwang YI,Jung KS,Seo J,Lee CY,Ko Y,Park YB

    更新日期:2019-06-13 00:00:00

  • Extragenital Müllerian adenosarcoma with pouch of Douglas location.

    abstract:BACKGROUND:Of all female genital tract tumors, 1-3% are stromal malignancies. In 8-10% of cases, these are represented by Müllerian adenosarcoma an extremely rare tumor characterized by a stromal component of usually low-grade malignancy and by a benign glandular epithelial component. Variant that arises in the pouch o...

    journal_title:BMC cancer

    pub_type: 杂志文章

    doi:10.1186/1471-2407-11-171

    authors: Patrelli TS,Silini EM,Gizzo S,Berretta R,Franchi L,Thai E,Lukanovic A,Nardelli GB,Modena AB

    更新日期:2011-05-15 00:00:00

  • miR-124 targets GATA6 to suppress cholangiocarcinoma cell invasion and metastasis.

    abstract:BACKGROUND:Our previous study showed that GATA6 plays important roles in cholangiocarcinoma (CCA) cell invasion and metastasis. However, the regulation mechanism of GATA6 in CCA is not clear. In this study, we studied the potential function of miR-124 in CCA and the mechanism of GATA6 regulation. METHODS:The expressio...

    journal_title:BMC cancer

    pub_type: 杂志文章

    doi:10.1186/s12885-017-3166-z

    authors: Tian F,Chen J,Zheng S,Li D,Zhao X,Jiang P,Li J,Wang S

    更新日期:2017-03-07 00:00:00

  • Muscle invasive bladder cancer in Upper Egypt: the shift in risk factors and tumor characteristics.

    abstract:BACKGROUND:In Egypt, where bilharziasis is endemic, bladder cancer is the commonest cancer in males and the 2nd in females; squamous cell carcinoma (SCC) is the commonest type found, with a peculiar mode of presentation. The aim of this study is to identify and rank the risk factors of muscle invasive bladder cancer (M...

    journal_title:BMC cancer

    pub_type: 杂志文章

    doi:10.1186/1471-2407-8-250

    authors: Zarzour AH,Selim M,Abd-Elsayed AA,Hameed DA,Abdelaziz MA

    更新日期:2008-08-29 00:00:00

  • Effects of subitems in the colorectal cancer screening protocol on the Chinese colorectal cancer screening program: an analysis based on natural community screening results.

    abstract:BACKGROUND:To date, no single colorectal cancer (CRC) screening strategy has been determined to be applicable worldwide. In China, a CRC screening protocol that combines double fecal immunochemical tests (FITs) and a high-risk factor questionnaire (HRFQ) as the first stage of screening and colonoscopy as the second sta...

    journal_title:BMC cancer

    pub_type: 杂志文章

    doi:10.1186/s12885-018-5191-y

    authors: Cai SR,Huang YQ,Zhang SZ,Li QR,Ma XY,Zheng S

    更新日期:2019-01-10 00:00:00

  • Effects of lifestyle and single nucleotide polymorphisms on breast cancer risk: a case-control study in Japanese women.

    abstract:BACKGROUND:Lifestyle factors, including food and nutrition, physical activity, body composition and reproductive factors, and single nucleotide polymorphisms (SNPs) are associated with breast cancer risk, but few studies of these factors have been performed in the Japanese population. Thus, the goals of this study were...

    journal_title:BMC cancer

    pub_type: 杂志文章,多中心研究

    doi:10.1186/1471-2407-13-565

    authors: Mizoo T,Taira N,Nishiyama K,Nogami T,Iwamoto T,Motoki T,Shien T,Matsuoka J,Doihara H,Ishihara S,Kawai H,Kawasaki K,Ishibe Y,Ogasawara Y,Komoike Y,Miyoshi S

    更新日期:2013-12-01 00:00:00

  • Association between polymorphisms in ERCC2 gene and oral cancer risk: evidence from a meta-analysis.

    abstract:BACKGROUND:Excision repair cross-complementing group 2 (ERCC2) plays important roles in the repair of DNA damage and adducts. Single nucleotide polymorphisms (SNPs) of ERCC2 gene are suspected to influence the risks of oral cancer. We performed a meta-analysis to systematically summarize the possible association of ERC...

    journal_title:BMC cancer

    pub_type: 杂志文章,meta分析

    doi:10.1186/1471-2407-13-594

    authors: Zhang E,Cui Z,Xu Z,Duan W,Huang S,Tan X,Yin Z,Sun C,Lu L

    更新日期:2013-12-12 00:00:00

  • Effects on quality of life, anti-cancer responses, breast conserving surgery and survival with neoadjuvant docetaxel: a randomised study of sequential weekly versus three-weekly docetaxel following neoadjuvant doxorubicin and cyclophosphamide in women wit

    abstract:BACKGROUND:Weekly docetaxel has occasionally been used in the neoadjuvant to downstage breast cancer to reduce toxicity and possibly enhance quality of life. However, no studies have compared the standard three weekly regimen to the weekly regimen in terms of quality of life. The primary aim of our study was to compare...

    journal_title:BMC cancer

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1186/1471-2407-11-179

    authors: Walker LG,Eremin JM,Aloysius MM,Vassanasiri W,Walker MB,El-Sheemy M,Cowley G,Beer J,Samphao S,Wiseman J,Jibril JA,Valerio D,Clarke DJ,Kamal M,Thorpe GW,Baria K,Eremin O

    更新日期:2011-05-18 00:00:00

  • Dietary restriction during the treatment of cancer: results of a systematic scoping review.

    abstract:BACKGROUND:Diets that restrict energy or macronutrient intake (e.g. fasting/ketogenic diets (KDs)) may selectively protect non-tumour cells during cancer treatment. Previous reviews have focused on a subset of dietary restrictions (DR) or have not performed systematic searches. We conducted a systematic scoping review ...

    journal_title:BMC cancer

    pub_type: 杂志文章

    doi:10.1186/s12885-019-5931-7

    authors: Shingler E,Perry R,Mitchell A,England C,Perks C,Herbert G,Ness A,Atkinson C

    更新日期:2019-08-15 00:00:00

  • Systemic inflammation is an independent predictive marker of clinical outcomes in mucosal squamous cell carcinoma of the head and neck in oropharyngeal and non-oropharyngeal patients.

    abstract:BACKGROUND:Currently there are very few biomarkers to identify head and neck squamous cell carcinoma (HNSCC) cancer patients at a greater risk of recurrence and shortened survival. This study aimed to investigate whether a marker of systemic inflammation, the neutrophil-to-lymphocyte ratio (NLR), was predictive of clin...

    journal_title:BMC cancer

    pub_type: 杂志文章

    doi:10.1186/s12885-016-2089-4

    authors: Charles KA,Harris BD,Haddad CR,Clarke SJ,Guminski A,Stevens M,Dodds T,Gill AJ,Back M,Veivers D,Eade T

    更新日期:2016-02-18 00:00:00

  • Clinical research of genetically modified dendritic cells in combination with cytokine-induced killer cell treatment in advanced renal cancer.

    abstract:BACKGROUND:Renal cell carcinoma (RCC) is a malignant disease that demonstrates resistance to standard chemotherapeutic agents. Yet Active immunization using genetically modified dendritic cells holds promise for the adjuvant treatment of malignancies to eradicate or control residual disease. Cytokine-induced killer (CI...

    journal_title:BMC cancer

    pub_type: 临床试验,杂志文章

    doi:10.1186/1471-2407-14-251

    authors: Wang D,Zhang B,Gao H,Ding G,Wu Q,Zhang J,Liao L,Chen H

    更新日期:2014-04-10 00:00:00

  • More expression of BDNF associates with lung squamous cell carcinoma and is critical to the proliferation and invasion of lung cancer cells.

    abstract:BACKGROUND:Brain-derived neurotrophic factor (BDNF) has been reported to promote tumorigenesis and progression in several human malignancies. The purpose of this study was to explore the function of BDNF in lung squamous cell carcinoma (SCC) and adenocarcinoma (ADC). METHODS:The expression of BDNF was examined in 110 ...

    journal_title:BMC cancer

    pub_type: 杂志文章

    doi:10.1186/s12885-016-2218-0

    authors: Zhang SY,Hui LP,Li CY,Gao J,Cui ZS,Qiu XS

    更新日期:2016-02-29 00:00:00

  • Effects of leucine supplemented diet on intestinal absorption in tumor bearing pregnant rats.

    abstract:BACKGROUND:It is known that amino acid oxidation is increased in tumor-bearing rat muscles and that leucine is an important ketogenic amino acid that provides energy to the skeletal muscle. METHODS:To evaluate the effects of a leucine supplemented diet on the intestinal absorption alterations produced by Walker 256, g...

    journal_title:BMC cancer

    pub_type: 杂志文章

    doi:10.1186/1471-2407-2-7

    authors: Ventrucci G,de Mello MA,Gomes-Marcondes MC

    更新日期:2002-04-15 00:00:00