ריבוי פוליפים בחולה צעיר. איתי מזאה MD PhD
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1 ריבוי פוליפים בחולה צעיר איתי מזאה MD PhD
2 הצגת מקרה בן 44, מוצא אשכנזי ללא מחלות רקע לא נוטל תרופות קבועות
3 הצגת מקרה 12/2014 הופעת דמם רקטלי קולונוסקופיה: 4 פוליפים הגדול 2 ס"מ TVA TA שני פוליפים היפרפלסטיים
4 הצגת מקרה 03/2015 קולונוסקופיה חוזרת פוליפ שטוח 5 ס"מ בצקום, הורד בחלקים פתולוגיה TVA עוד שני פוליפים קטנים היפרפלסטיים
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8 סיכום ביניים פוליפים גדולים מסוג TVA פוליפים היפרפלסטיים בן 44 סה"כ: 2 4
9 What NEXT?
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12 בירור גנטי 3 מוטציות שכיחות בגנים MSH2/MSH6 שליליות מוטציות ב- MUTYH שליליות מה הלאה?
13 Next Generation Sequencing (Panels)
14 Gene RefSeq Disease Association or Cancer Risk Complete Sequencing Del/Dup Added RPS20 NM_ Colon cancer Yes Yes February 2015 MLH1 NM_ Lynch, Muir-Torre Yes Yes November 2011 MSH2, includes exon 1-7 NM_ Lynch, Muir-Torre Yes Yes November 2011 inversion MSH6 NM_ Lynch Yes Yes November 2011 PMS2 NM_ Lynch Yes Yes November 2011 EPCAM NM_ Lynch Yes Yes November 2011 APC NM_ FAP, Turcot Yes Yes November 2011 MUTYH NM_ MUTYH-associated Yes Yes November 2011 polyposis CDH1 NM_ Hereditary diffuse gastric Yes Yes June 2012 cancer CTNNA1 NM_ Hereditary diffuse gastric Yes Yes October 2014 cancer PTEN NM_ Cowden Yes Yes June 2012 AKT1 NM_ Cowden-like, Breast, thyroid cancers, macrocephaly Yes Yes October 2013 PIK3CA NM_ Cowden-like, Breast, thyroid cancer, macrocephaly Yes Yes October 2013 STK11 NM_ Peutz-Jeghers Yes Yes June 2012 TP53 NM_ Li-Fraumeni Yes Yes June 2012 CHEK2 NM_ Li-Fraumeni-like Yes Yes February 2015 SMAD4 NM_ Juvenile Polyposis Yes YES January 2013 BMPR1A NM_ Juvenile Polyposis Yes Yes January 2013 POLE NM_ Colon cancer Yes Yes October 2013 POLD1 NM_ Colon cancer Yes Yes October 2013 GALNT12 NM_ Colon cancer Yes Yes October 2013 GREM1 NM_ Polyposis Yes Yes October 2013 AXIN2 NM_ Colon cancer, oligodontia Yes Yes February 2015
15 Gene RefSeq Disease Association or Cancer Risk Complete Sequencing Del/Dup Added RPS20 NM_ Colon cancer Yes Yes February 2015 MLH1 NM_ Lynch, Muir-Torre Yes Yes November 2011 MSH2, includes exon 1-7 NM_ Lynch, Muir-Torre Yes Yes November 2011 inversion MSH6 NM_ Lynch Yes Yes November 2011 PMS2 NM_ Lynch Yes Yes November 2011 EPCAM NM_ Lynch Yes Yes November 2011 APC NM_ FAP, Turcot Yes Yes November 2011 MUTYH NM_ MUTYH-associated Yes Yes November 2011 polyposis CDH1 NM_ Hereditary diffuse gastric Yes Yes June 2012 cancer CTNNA1 NM_ Hereditary diffuse gastric Yes Yes October 2014 cancer PTEN NM_ Cowden Yes Yes June 2012 AKT1 NM_ Cowden-like, Breast, thyroid cancers, macrocephaly Yes Yes October 2013 PIK3CA NM_ Cowden-like, Breast, thyroid cancer, macrocephaly Yes Yes October 2013 STK11 NM_ Peutz-Jeghers Yes Yes June 2012 TP53 NM_ Li-Fraumeni Yes Yes June 2012 CHEK2 NM_ Li-Fraumeni-like Yes Yes February 2015 SMAD4 NM_ Juvenile Polyposis Yes YES January 2013 BMPR1A NM_ Juvenile Polyposis Yes Yes January 2013 POLE NM_ Colon cancer Yes Yes October 2013 POLD1 NM_ Colon cancer Yes Yes October 2013 GALNT12 NM_ Colon cancer Yes Yes October 2013 GREM1 NM_ Polyposis Yes Yes October 2013 AXIN2 NM_ Colon cancer, oligodontia Yes Yes February 2015
16 נמצאה מוטציה GREM1 בגן Hereditary Mixed Polyposis Syndrome תורשה אוטוזומלית דומיננטית פוליפים עם היסטולוגיה מעורבת: היפרפלסטיים אדנומטוטיים JUVENILE עליה בשכיחות של CRC
17 2012
18 Hereditary Mixed Polyposis Syndrome o 3 Jewish Ashkenazi families with HMPS o Dominant inheritance
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22 סיכום Hereditary mixed polyposis syndrome may be caused by a mutation upstream to the GREM1 gene Dominant inheritance Ashkenazi Jews Rising role of genetic panels
23 תודה רבה
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