This is a long, complex report. Please ask questions and for clarification!
This is a patient-view report. Please remember, I’m a Peutz-Jeghers syndrome patient not a medical professional and am not giving medical advice. My advice is to get good medical advice, hopefully from a genetics professional. This report contains speculations on the importance of mosaicism in PJS, based on its importance in FAP (familial adenomatous polyposis). Because PJS mosaicism hasn’t been described in the medical literature, even a genetic counselor may not be familiar with the topic. You are welcome to share this report with your health care provider, just make sure to say it’s a literature based report, not medical prescribing.
Let’s consider genetic mosaicism in PJS. Though it hasn’t been described in the PJS literature, in the summer 0f 2009 two people have reported mosaicism in self or PJS family member. Mosaicism is a genetic mutation that affects only some cells or portions of a person’s body…so instead of having the PJS gene (LKB1/STK11) mutated in every cell of the body, including the blood, only portions of the body are affected.
This is a patient-view report. Please remember, I’m a Peutz-Jeghers syndrome patient not a medical professional and am not giving medical advice. My advice is to get good medical advice, hopefully from a genetics professional. This report contains speculations on the importance of mosaicism in PJS, based on its importance in FAP (familial adenomatous polyposis). Because PJS mosaicism hasn’t been described in the medical literature, even a genetic counselor may not be familiar with the topic. You are welcome to share this report with your health care provider, just make sure to say it’s a literature based report, not medical prescribing.
Let’s consider genetic mosaicism in PJS. Though it hasn’t been described in the PJS literature, in the summer 0f 2009 two people have reported mosaicism in self or PJS family member. Mosaicism is a genetic mutation that affects only some cells or portions of a person’s body…so instead of having the PJS gene (LKB1/STK11) mutated in every cell of the body, including the blood, only portions of the body are affected.
