Myelodysplastic syndrome with 5q deletion

Myelodysplastic syndrome with 5q deletion is a distinct subtype of clonal hematopoietic stem cell neoplasm primarily affecting older adults, with a pronounced female predominance Pathophysiologically driven by an interstitial deletion of the long arm of chromosome 5—which induces haploinsufficiency of critical genes such as *RPS14* and causes ribosomal stress with p53 activation—the condition impairs erythroid differentiation and promotes apoptosis of erythroid precursors Clinically, it manifest...

Myelodysplastic syndrome with 5q deletion is a distinct subtype of clonal hematopoietic stem cell neoplasm primarily affecting older adults, with a pronounced female predominance Pathophysiologically driven by an interstitial deletion of the long arm of chromosome 5—which induces haploinsufficiency of critical genes such as *RPS14* and causes ribosomal stress with p53 activation—the condition impairs erythroid differentiation and promotes apoptosis of erythroid precursors Affected individuals ty...

Myelodysplastic syndrome with 5q deletion is a distinct subtype of clonal hematopoietic stem cell neoplasm primarily affecting older adults, with a pronounced female predominance

Clinically, it manifests in the bone marrow and peripheral blood as severe, refractory macrocytic anemia, frequently accompanied by normal or elevated platelet counts and characteristic hypolobated or monolobated megakaryocytes

Clinically, it manifests in the bone marrow and peripheral blood as severe, refractory macrocytic anemia, frequently accompanied by normal or elevated platelet counts and characteristic hypolobated or monolobated megakaryocytes

Affected individuals typically present with low marrow blast counts and a comparatively lower risk of acute myeloid leukemia transformation, though clinical severity and leukemic potential increase significantly if concomitant *TP53* mutations are acquired

Affected individuals typically present with low marrow blast counts and a comparatively lower risk of acute myeloid leukemia transformation, though clinical severity and leukemic potential increase significantly if concomitant *TP53* mutations are acquired