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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessSignet ring cell carcinoma, gastric; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Signet ring cell carcinoma, stomach, containing 2 guideline-curated genes [1 core, 1 core candidate gene], furthermore 10 guideline-mentioned genes and altogether 16 curated genes according to the clinical signs

ID
SP4478
Number of genes
14 Accredited laboratory test
Examined sequence length
5,4 kb (Core-/Core-canditate-Genes)
47,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CDH12649NM_004360.5AD, Sus
CTNNA12721NM_001903.5n.k., Sus
APC8532NM_000038.6AD, Sus
BRCA15592NM_007294.4n.k., Sus
BRCA210257NM_000059.4AD, AR, Sus
CHEK21632NM_007194.4AD, Sus
EPCAM945NM_002354.3AD, Sus
MLH12271NM_000249.4AD, Sus
MSH22805NM_000251.3AD, AR, Sus
MSH64083NM_000179.3AD, Sus
PMS22589NM_000535.7AD, Sus
PTEN1212NM_000314.8Sus
STK111302NM_000455.5AD, Sus
TP531182NM_000546.6AD, Sus

Informations about the disease

Clinical Comment

Gastric cancer (GC) is classified into two main histological types, diffuse and intestinal, plus an undetermined mixed type. The intestinal and diffuse types exhibit numerous differences in etiology and prognosis, the diffuse type having worse prognosis. Since 1990, signet-ring cell carcinoma (SRCC), previously classified as diffuse type, constitutes a specific histotype. While the incidence of GC has decreased worldwide, the incidence of SRCC is constantly increasing accounting for 8-30% of GC. Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant disorder. 40% of HDGC families have germline mutations in the CDH1 gene, and the cumulative risk of GC for CDH1 mutation carriers by age 80 is 70% for men and 56% for women, the latter with a 50%-risk of breast cancer. Somatic CDH1 alterations have also been found in 30% of all patients with GC. As CDH1 is a tumor suppressor gene, second somatic hits include promoter methylation, somatic mutation or loss of heterozygosity. Due to their high number and the difficulty to demonstrate their functional role in vivo, many mutations remain clinically uncertain. GC associated with CDH1 mutation is highly penetrant, presents at early age and severe in course. The diagnostic yield is at most 50%, thus negative mutation test results do not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1139/

 

Synonyms
  • Alias: Hereditäres diffuses Magenkarzinom
  • Alias: Siegelring-Karzinom
  • Allelic: Acrodysostosis 1, with/-out hormone resistance (PRKAR1A) 3
  • Allelic: Adenomatous polyposis coli (APC)
  • Allelic: Adrenocortical carcinoma, pediatric (TP53)
  • Allelic: Basal cell carcinoma 7 (TP53)
  • Allelic: Blepharocheilodontic syndrome 1 (CDH1)
  • Allelic: Bone marrow failure syndrome 5 (TP53)
  • Allelic: Brain tumor-polyposis syndrome 2 (APC)
  • Allelic: Breast cancer, lobular (CDH1)
  • Allelic: Breast cancer, male, susceptibility to (BRCA2)
  • Allelic: Breast cancer, somatic (TP53)
  • Allelic: Breast cancer, susceptibility to (CHEK2)
  • Allelic: Breast cancer, susceptibility to (PALB2)
  • Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
  • Allelic: Choroid plexus papilloma (TP53)
  • Allelic: Colorectal cancer (TP53)
  • Allelic: Colorectal cancer, susceptibility to (CHEK2)
  • Allelic: Desmoid disease, hereditary (APC)
  • Allelic: Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
  • Allelic: Endometrial cancer, familial (MSH6)
  • Allelic: Endometrial carcinoma, somatic (CDH1)
  • Allelic: Exudative vitreoretinopathy [MONDO:0019516] (CTNNA1)
  • Allelic: Gardner syndrome (APC)
  • Allelic: Glioblastoma 3 (BRCA2)
  • Allelic: Glioma susceptibility 1 (TP53)
  • Allelic: Glioma susceptibility 2 (PTEN)
  • Allelic: Hepatocellular carcinoma, somatic (TP53)
  • Allelic: Macrocephaly/autism syndrome (PTEN)
  • Allelic: Macular dystrophy, patterned, 2 (CTNNA1)
  • Allelic: Medulloblastoma (BRCA2)
  • Allelic: Melanoma + neural system tumor syndrome (CDKN2A)
  • Allelic: Melanoma, cutaneous malignant, 2 (CDKN2A)
  • Allelic: Melanoma-pancreatic cancer syndrome (CDKN2A)
  • Allelic: Meningioma (PTEN)
  • Allelic: Myxoma, intracardiac (PRKAR1A)
  • Allelic: Nasopharyngeal carcinoma, somatic (TP53)
  • Allelic: Osteosarcoma (TP53)
  • Allelic: Ovarian cancer, somatic (CDH1)
  • Allelic: Pancreatic cancer 2 (BRCA2)
  • Allelic: Pancreatic cancer, somatic (TP53)
  • Allelic: Pancreatic cancer, susceptibility to, 3 (PALB2)
  • Allelic: Pigmented nodular adrenocortical disease, primary, 1 (PRKAR1A)
  • Allelic: Prostate cancer (BRCA2)
  • Allelic: Prostate cancer, familial, susceptibility to (CHEK2)
  • Allelic: Prostate cancer, susceptibility to (CDH1)
  • Allelic: Wilms tumor (BRCA2)
  • Ataxia-telangiectasia (ATM)
  • Carney complex, type 1 (PRKAR1A)
  • Cowden syndrome 1 (PTEN)
  • Fanconi anemia, complementation group D1 (BRCA2)
  • Fanconi anemia, complementation group N (PALB2)
  • Gastric adenocarcinoma + proximal polyposis of the stomach (APC)
  • Gastric cancer, hereditary diffuse, with/-out cleft lip and/or palate (CDH1)
  • Hereditary diffuse gastric cancer [D-guideline] (CTNNA1)
  • Lhermitte-Duclos disease (PTEN)
  • Li-Fraumeni syndrome (TP53)
  • Li-Fraumeni syndrome 2 (CHEK2)
  • Lynch syndrome 1 (MSH2)
  • Lynch syndrome 2 (MLH1)
  • Lynch syndrome 4 (PMS2)
  • Lynch syndrome 5 (MSH6)
  • Lynch syndrome 8 (EPCAM)
  • Mismatch repair cancer syndrome 1 (MLH1)
  • Mismatch repair cancer syndrome 2 (MSH2)
  • Mismatch repair cancer syndrome 3 (MSH6)
  • Mismatch repair cancer syndrome 4 (PMS2)
  • Muir-Torre syndrome (MLH1, MSH2)
  • Peutz-Jeghers syndrome (STK11)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Sus
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined