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1.

Carcinoma

A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus). [from HPO]

MedGen UID:
2867
Concept ID:
C0007097
Neoplastic Process
2.

Adenocarcinoma

Cancer that begins in cells that line certain internal organs and that have gland-like (secretory) properties. [from NCI_NCI-GLOSS]

MedGen UID:
122
Concept ID:
C0001418
Neoplastic Process
3.

Carcinoma

MedGen UID:
910818
Concept ID:
CN241453
Finding
4.

Squamous cell carcinoma

The presence of squamous cell carcinoma of the skin. [from HPO]

MedGen UID:
505376
Concept ID:
CN002585
Finding
5.

Esophageal Adenocarcinoma

A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor. [from NCI]

MedGen UID:
124636
Concept ID:
C0279628
Neoplastic Process
6.

Squamous cell carcinoma

The presence of squamous cell carcinoma of the skin. [from HPO]

MedGen UID:
2874
Concept ID:
C0007137
Neoplastic Process
7.

Barrett esophagus

Barrett esophagus, or Barrett metaplasia, describes the phenotypic change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium. This metaplastic change is important because patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett metaplasia is gastroesophageal reflux (GER; 109350). The retrograde movement of acid and bile salts from the stomach into the esophagus in this disease causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes (summary by Wong et al., 2005). [from OMIM]

MedGen UID:
2551
Concept ID:
C0004763
Disease or Syndrome
8.

Malignant Neoplasm

Cancer begins in your cells, which are the building blocks of your body. Normally, your body forms new cells as you need them, replacing old cells that die. Sometimes this process goes wrong. New cells grow even when you don't need them, and old cells don't die when they should. These extra cells can form a mass called a tumor. Tumors can be benign or malignant. Benign tumors aren't cancer while malignant ones are. Cells from malignant tumors can invade nearby tissues. They can also break away and spread to other parts of the body. . Cancer is not just one disease but many diseases. There are more than 100 different types of cancer. Most cancers are named for where they start. For example, lung cancer starts in the lung, and breast cancer starts in the breast. The spread of cancer from one part of the body to another is called metastasis. Symptoms and treatment depend on the cancer type and how advanced it is. Most treatment plans may include surgery, radiation and/or chemotherapy. Some may involve hormone therapy, biologic therapy, or stem cell transplantation. . NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
14297
Concept ID:
C0006826
Neoplastic Process
9.

Squamous cell carcinoma of esophagus

Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC; see this term) that can affect any part of the esophagus, but is usually located in the upper or middle third. [from ORDO]

MedGen UID:
832478
Concept ID:
CN207490
Disease or Syndrome
10.

Barrett esophagus

An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system. [from HPO]

MedGen UID:
506488
Concept ID:
CN117473
Finding
11.

Neoplasm

A malignant tumor at the original site of growth. [from NCI]

MedGen UID:
227011
Concept ID:
C1306459
Neoplastic Process
12.

Familial multiple trichoepitheliomata

Multiple familial trichoepithelioma, also called epithelioma adenoides cysticum (EAC), is an autosomal dominant dermatosis characterized by the presence of many skin tumors predominantly on the face. Since histologic examination shows dermal aggregates of basaloid cells with connection to or differentiation toward hair follicles, this disorder has been thought to represent a benign hamartoma of the pilosebaceous apparatus. Trichoepitheliomas can degenerate into basal cell carcinoma (Johnson and Bennett, 1993). Because BRSS, familial cylindromatosis, and MFT1 are allelic, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity (Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008). Blake and Toro (2009) provided a detailed review of the spectrum of disorders associated with CYLD mutations. [from OMIM]

MedGen UID:
220890
Concept ID:
C1275122
Neoplastic Process
13.

Malignant tumor of esophagus

Esophageal cancer, particularly esophageal squamous cell carcinoma (ESCC), is one of the most common cancers worldwide. Both environmental and genetic risk factors play a role in the pathogenesis of the disorder. In Europe and North America, heavy smoking, alcohol consumption, and increased body mass index (BMI) are the main environmental risk factors. In contrast, the particularly high incidence of ESCC in some areas of China, central Asia, and southern Africa is associated with nutritional deficiencies, high intake of nitrosamine-rich or pickled vegetables, and low socioeconomic status; smoking, alcohol consumption, and BMI play a lesser role in these populations. There is a tendency for familial aggregation of ESCC in high-risk geographic areas, suggesting a genetic component to increased susceptibility. Gastric cardia adenocarcinoma is another common type of cancer in China that shows similarities to ESCC in terms of geographic distribution and environmental risk factors (summary by Wang et al., 2010 and Abnet et al., 2010). Genetic Heterogeneity of Susceptibility to Esophageal Cancer See a variant in the ADH1B gene (103720.0001) for discussion of a possible genetic association with protection against squamous cell aerodigestive tract cancer, including esophageal cancer, in alcohol drinkers. See a variant in the ALDH2 gene (100650.0001) for discussion of a possible genetic association with increased risk for esophageal cancer in alcohol drinkers due to interaction between variants in the ADH1B and ALDH2 genes. See the S100A14 gene (607986) on chromosome 1q21 for a discussion of a possible association between variation in that gene and susceptibility to esophageal squamous cell carcinoma among smokers. Genetic Heterogeneity of Somatic Mutations in Esophageal Cancer Somatic mutations in several different genes have been found in esophageal cancer tissue. These genes include TP53 (191170), CDKN2A (600160), DEC1 (604767), DCC (120470), DLEC1 (604050), TGFBR2 (190182), LZTS1 (606551), RNF6 (604242), WWOX (605131), APC (611731), and RUNX3 (600210). [from OMIM]

MedGen UID:
107792
Concept ID:
C0546837
Neoplastic Process
14.

Present

Being or existing in a specified place or at the specified time. (NCI) [from NCI_CDISC]

MedGen UID:
57709
Concept ID:
C0150312
Finding
15.

Oesophageal carcinoma

The presence of a carcinoma of the esophagus. [from HPO]

MedGen UID:
56256
Concept ID:
C0152018
Neoplastic Process
16.

Epithelial Neoplasm

A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. [from NCI]

MedGen UID:
277963
Concept ID:
C1368683
Neoplastic Process
17.

Carcinomatosis

Carcinoma that has spread diffusely to an anatomic site or throughout the body. [from NCI]

MedGen UID:
104704
Concept ID:
C0205699
Neoplastic Process
18.

Cribriform Carcinoma

A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma. [from NCI]

MedGen UID:
104694
Concept ID:
C0205643
Neoplastic Process
19.

Abnormality of the digestive system

Congenital structural abnormalities of the DIGESTIVE SYSTEM. [from MeSH]

MedGen UID:
78584
Concept ID:
C0266015
Congenital Abnormality
20.

Tubular Adenocarcinoma

An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma. [from NCI]

MedGen UID:
61428
Concept ID:
C0205645
Neoplastic Process
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