inherit type  phenotype  Genetic etiology
 MYH-associated polyposis （MAP)  recessively inherited   no specific phenotypic feature
rectums are studded with small hyperplastic polyps		   MYH mutation
 Familial Colorectal Cancer Type X (FCCTX)   autosomal dominant   hereditary nonpolyposis 
no mutation in mismatch repair ,microsatellite stable
less predominant tumors in proximal colon
predominant in distal location in the colon
no increased risk of extra-colonic cancers
older age of diagnosis
higher adenoma/carcinoma ratio, which indicates a slower progression to CRC
  heterogeneous  with different genetic variants
BRCA2, SEMA4, NTS, RASSF9, GALNT12, KRAS, BRAF, APC, BMPR1A, and RPS20.
BRCA2 has the highest mutation 
high degree of CIN+( chromosomal instability)increased 20q gain
 The genetic background is unknown for the 50-60% of the HNPCC families, who fulfill the Amsterdam criteria, but do not have a mutation in an MMR gene, and is referred to as FCCTX. 
 SPS
  WHO
 (1)?5 serrated colon polyps proximal and 2 or more of these being >10 mm
(2)>20 serrated polyps of any size distributed throughout the colon (not all in the rectum)
prevalence  1:7000 Japan 
prevalence rates of up to 1:127 are reported
In SPS, rapid and unrelenting colorectal neoplasia development continues in the intact colorectum and retained segment after surgery
The phenotype of SPS in Korean patients is different from that of Western 
 multiple serrated polyps (MSP) but do not fulfill the WHO criteria   same risk of developing CRC as patients with SPS
should require , annual or biannual colonoscopy
       
       
       

Other publish

aFAP,MYH,HNPCCの３つがメジャーであり、この３つは症状も似ている。DNA検査をするメリットは？
・・・・女性にはある。理由：HNPCCなら婦人科癌が多いから

SPS

  1. A 5-year cumulative incidence of CRC during surveillance after clearing of all relevant polyps of 1.5% has been reported.
  2. Recently published guidelines recommend resection of all clinically relevant lesions and starting annual colonoscopy surveillance
  3. Type 1 serrated polyposis is characterized by multiple (five or more), large, proximally located SSAs, Type 2 serrated polyposis is a more heterogeneous condition characterized by numerous (?20) small hyperplastic polyps (HPs) distributed throughout the colon;type 1 seems to bear a higher risk of CRC as compared to type 2
  4. Patients with SPS have an increased risk of CRC, although lower than previously published.  (1.9% in 5?years). Specific polyp features (SSA/P histology, proximal location and presence of high-grade dysplasia) should be used to guide clinical management

  5. Serrated lesions of the appendix in serrated polyposis patients

SSAP

  1. calcium and vitamin D supplementation increased the risk of SSA/Ps.
  2. Selective expression of gastric mucin MUC6 in colonic sessile serrated adenoma but not in hyperplastic polyp aids in morphological diagnosis of serrated polyps.
  3. herniation of crypts as one of the four important diagnostic criteria for SSA　in German ,UK but not in USA Japan the frequencies of herniation of crypts were 1.79% (10/559) in SSA, 0.2% (3/1487) in HP 
  4. proposes removing all SSA/Ps ? 6 mm in order to remove high-risk SSA(Japan Sano)

Hyper,ALL Serrated Lesion

  1. Patients with small and diminutive proximal HPs tend to harbor higher rates of synchronous advanced neoplasia 

  2. British Society of Gastroenterology position statement on serrated polyps

  3. BRAF inhibitor treatment of melanoma causing colonic polyps: An alternative hypothesis


HNPCC

  1.  detection rate of SSLs in Lynch syndrome patients is comparable with a matched population



ADR

  1. Use of an overall ADR rather than screening-only ADR could simplify ADR measurement