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--- pot1_mutation [2026/05/10 20:46] – wh
+++ pot1_mutation [2026/05/10 20:56] (current) – [Risks of neoplasia and haematologic conditions] wh
@@ Line 35: / Line 35: @@
   *essential thrombocytosis
   *chronic lymphocytosis
-  *"familial clonal hematopoiesis" syndrome, where the inherited POT1 mutation leads to the early onset of Clonal Hematopoiesis of Indeterminate Potential ([[CHIP|CHIP]]), frequently driven by somatic JAK2 V617F mutations (([[https://www.esmo.org/oncology-news/pot1-mutations-associated-with-long-telomere-length-confer-a-predisposition-to-a-familial-clonal-haematopoiesis-syndrome]]))
+  *"familial clonal hematopoiesis" syndrome, where the inherited POT1 mutation leads to the early onset of [[CHIP]], frequently driven by somatic [[jak|JAK2 V617F mutations]] (([[https://www.esmo.org/oncology-news/pot1-mutations-associated-with-long-telomere-length-confer-a-predisposition-to-a-familial-clonal-haematopoiesis-syndrome]]))
 =====Dx=====
   *telomeres grow excessively long, which can be identified in clinical tests like flow-FISH