Linitis plastica other diagnostic studies: Difference between revisions
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==Overview== | ==Overview== | ||
Brush cytology may be helpful in the diagnosis of linitis plastica and its complications. Brush cytology has the ability to increase the | Brush cytology may be helpful in the diagnosis of linitis plastica and its complications. Brush cytology has the ability to increase the sensitivity of even a single biopsy carried out by endoscopic ultrasound. If bleeding is a concern in the patient, brush cytology is able to take samples of the mucosa without bleeding. Immunohistochemical staining then confirms the diagnosis of linitis plastica by the detection of signet ring cells. Peritoneal cytology can also be useful in those that are negative for metastasis elsewhere. Genetic testing can be carried out in those who have family history of hereditary diffuse gastric adenocarcinoma and are postive for CDH1 gene mutation. The risk for developing gastric cancer is high enough to warrant prophylactic gastrectomy in these patients. | ||
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*CDH1 mutation is detected in 15 - 50 percent of those with hereditary diffuse gastric adenocarcinoma.<ref name="pmid11443625">{{cite journal |vauthors=Chun YS, Lindor NM, Smyrk TC, Petersen BT, Burgart LJ, Guilford PJ, Donohue JH |title=Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated? |journal=Cancer |volume=92 |issue=1 |pages=181–7 |year=2001 |pmid=11443625 |doi= |url=}}</ref><ref name="pmid17522512">{{cite journal |vauthors=Norton JA, Ham CM, Van Dam J, Jeffrey RB, Longacre TA, Huntsman DG, Chun N, Kurian AW, Ford JM |title=CDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer |journal=Ann. Surg. |volume=245 |issue=6 |pages=873–9 |year=2007 |pmid=17522512 |pmc=1876967 |doi=10.1097/01.sla.0000254370.29893.e4 |url=}}</ref> | *CDH1 mutation is detected in 15 - 50 percent of those with hereditary diffuse gastric adenocarcinoma.<ref name="pmid11443625">{{cite journal |vauthors=Chun YS, Lindor NM, Smyrk TC, Petersen BT, Burgart LJ, Guilford PJ, Donohue JH |title=Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated? |journal=Cancer |volume=92 |issue=1 |pages=181–7 |year=2001 |pmid=11443625 |doi= |url=}}</ref><ref name="pmid17522512">{{cite journal |vauthors=Norton JA, Ham CM, Van Dam J, Jeffrey RB, Longacre TA, Huntsman DG, Chun N, Kurian AW, Ford JM |title=CDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer |journal=Ann. Surg. |volume=245 |issue=6 |pages=873–9 |year=2007 |pmid=17522512 |pmc=1876967 |doi=10.1097/01.sla.0000254370.29893.e4 |url=}}</ref> | ||
*The risk of developing diffuse gastric adenocarcinoma in an individual with CDH1 mutation is 70 percent in men and up to 56 percent in women. | *The risk of developing diffuse gastric adenocarcinoma in an individual with CDH1 mutation is 70 percent in men and up to 56 percent in women. | ||
*In 2015, the IGCLC (International Gastric Cancer Linkage Consortium) established criteria for CDH1 mutation testing | *In 2015, the IGCLC (International Gastric Cancer Linkage Consortium) established criteria for CDH1 mutation testing. Individuals who fall into any of these criteria are candidates for genetic testing:<ref name="pmid25979631">{{cite journal |vauthors=van der Post RS, Vogelaar IP, Carneiro F, Guilford P, Huntsman D, Hoogerbrugge N, Caldas C, Schreiber KE, Hardwick RH, Ausems MG, Bardram L, Benusiglio PR, Bisseling TM, Blair V, Bleiker E, Boussioutas A, Cats A, Coit D, DeGregorio L, Figueiredo J, Ford JM, Heijkoop E, Hermens R, Humar B, Kaurah P, Keller G, Lai J, Ligtenberg MJ, O'Donovan M, Oliveira C, Pinheiro H, Ragunath K, Rasenberg E, Richardson S, Roviello F, Schackert H, Seruca R, Taylor A, Ter Huurne A, Tischkowitz M, Joe ST, van Dijck B, van Grieken NC, van Hillegersberg R, van Sandick JW, Vehof R, van Krieken JH, Fitzgerald RC |title=Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers |journal=J. Med. Genet. |volume=52 |issue=6 |pages=361–74 |year=2015 |pmid=25979631 |pmc=4453626 |doi=10.1136/jmedgenet-2015-103094 |url=}}</ref> | ||
*A blood or saliva sample is analyzed. | |||
**Two cases of gastric cancer in a family regardless of their age, one of which must have a confirmed case of diffuse gastric cancer. | **Two cases of gastric cancer in a family regardless of their age, one of which must have a confirmed case of diffuse gastric cancer. | ||
**Any individual under the age of 40 with diffuse gastric cancer. | **Any individual under the age of 40 with diffuse gastric cancer. | ||
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**A history of a cleft lip and/or palate or a family history of cleft lip and/or palate in a first or second degree relative with diffuse gastric carcinoma. | **A history of a cleft lip and/or palate or a family history of cleft lip and/or palate in a first or second degree relative with diffuse gastric carcinoma. | ||
**A gastric biopsy that shows evidence of in situ signet ring cells and/or paget-configured spread of signet ring cells. | **A gastric biopsy that shows evidence of in situ signet ring cells and/or paget-configured spread of signet ring cells. | ||
==References== | ==References== | ||
Revision as of 21:35, 11 January 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Hadeel Maksoud M.D.[2]
Overview
Brush cytology may be helpful in the diagnosis of linitis plastica and its complications. Brush cytology has the ability to increase the sensitivity of even a single biopsy carried out by endoscopic ultrasound. If bleeding is a concern in the patient, brush cytology is able to take samples of the mucosa without bleeding. Immunohistochemical staining then confirms the diagnosis of linitis plastica by the detection of signet ring cells. Peritoneal cytology can also be useful in those that are negative for metastasis elsewhere. Genetic testing can be carried out in those who have family history of hereditary diffuse gastric adenocarcinoma and are postive for CDH1 gene mutation. The risk for developing gastric cancer is high enough to warrant prophylactic gastrectomy in these patients.
Other Diagnostic Studies
Brush cytology
- Brush cytology with immunohistochemical staining may be helpful in the diagnosis of linitis plastica.[1]
- Brush cytology has the following advantages:
- No risk of bleeding
- Increased sensitivity of single biopsy
- Sensitive to poorly differentiated linits plastica
Genetic testing
- CDH1 mutation is detected in 15 - 50 percent of those with hereditary diffuse gastric adenocarcinoma.[2][3]
- The risk of developing diffuse gastric adenocarcinoma in an individual with CDH1 mutation is 70 percent in men and up to 56 percent in women.
- In 2015, the IGCLC (International Gastric Cancer Linkage Consortium) established criteria for CDH1 mutation testing. Individuals who fall into any of these criteria are candidates for genetic testing:[4]
- A blood or saliva sample is analyzed.
- Two cases of gastric cancer in a family regardless of their age, one of which must have a confirmed case of diffuse gastric cancer.
- Any individual under the age of 40 with diffuse gastric cancer.
- Any individual with a personal or family history of first or second degree relative with of diffuse gastric cancer and lobular breast cancer, one of which was diagnosed under the age of 50.
- Two or more cases of lobular breat carcinoma less than 50 years of age with bilateral lobular breast carcinoma or a family history in a first of second degree relative.
- A history of a cleft lip and/or palate or a family history of cleft lip and/or palate in a first or second degree relative with diffuse gastric carcinoma.
- A gastric biopsy that shows evidence of in situ signet ring cells and/or paget-configured spread of signet ring cells.
References
- ↑ Wang HH, Jonasson JG, Ducatman BS (1991). "Brushing cytology of the upper gastrointestinal tract. Obsolete or not?". Acta Cytol. 35 (2): 195–8. PMID 2028694.
- ↑ Chun YS, Lindor NM, Smyrk TC, Petersen BT, Burgart LJ, Guilford PJ, Donohue JH (2001). "Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated?". Cancer. 92 (1): 181–7. PMID 11443625.
- ↑ Norton JA, Ham CM, Van Dam J, Jeffrey RB, Longacre TA, Huntsman DG, Chun N, Kurian AW, Ford JM (2007). "CDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer". Ann. Surg. 245 (6): 873–9. doi:10.1097/01.sla.0000254370.29893.e4. PMC 1876967. PMID 17522512.
- ↑ van der Post RS, Vogelaar IP, Carneiro F, Guilford P, Huntsman D, Hoogerbrugge N, Caldas C, Schreiber KE, Hardwick RH, Ausems MG, Bardram L, Benusiglio PR, Bisseling TM, Blair V, Bleiker E, Boussioutas A, Cats A, Coit D, DeGregorio L, Figueiredo J, Ford JM, Heijkoop E, Hermens R, Humar B, Kaurah P, Keller G, Lai J, Ligtenberg MJ, O'Donovan M, Oliveira C, Pinheiro H, Ragunath K, Rasenberg E, Richardson S, Roviello F, Schackert H, Seruca R, Taylor A, Ter Huurne A, Tischkowitz M, Joe ST, van Dijck B, van Grieken NC, van Hillegersberg R, van Sandick JW, Vehof R, van Krieken JH, Fitzgerald RC (2015). "Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers". J. Med. Genet. 52 (6): 361–74. doi:10.1136/jmedgenet-2015-103094. PMC 4453626. PMID 25979631.