![Clinical presentation of the patient. (A) Genogram for the ERCC6L2-mutated pedigree. The squares denote males, and the circles denote females. The pink arrow shows the proband. The red boxes indicate individuals with MDS/AML. ERCC6L2 mutations were detected in the MDS/AML sample for III-3, but DNA was not available for the other affected individual (III-6). The gray box indicates individuals with detectable ERCC6L2 homozygous mutation without myeloid malignancy (III-1). The hatched box indicates an heterozygous carrier (III-5). No DNA was available from other family members. (B-D) Aspirate showing binuclear erythroblast (A), hyposegmentation of granulocytes (red arrow), (B) and monolobated megakaryocyte; (C) Leishman stained (original magnification ×400 to ×1000). (E) Trephine biopsy showing a hypercellular BM; hematoxylin and eosin–stained section (original magnification ×200). (F) Metaphase representative of the monosomal and complex karyotype 43,XX,der(5)t(5;17)(q14;q21),-7,dic(9;?)(p13;?),-17.- 18[19]/46,XX[1].](https://ash.silverchair-cdn.com/ash/content_public/journal/bloodglobal/1/3/10.1016_j.bglo.2025.100022/1/bglo_bgh-2025-000171-gr1.jpeg?Expires=1763191118&Signature=qBkUPO2E5Z~~yf-llXtZLnnu08WbJk9DDfCpsaTwfUbeAT-gbBg~0xgDpGzfIx1YhPleCVl4caTWRJjJPf0WVpfNxiY7OMHZoTcpamPiwUVamwK2nO-LgfUpoN0f~JcCWn4qbD8xqCZW~GMXhDOUvt2ockAXXAh2SKFb1s6PMx5jgIWQwT~LWpAkZrXxrg0UMhINCK595DJktdZMrDWh-OsWN7y1TLOmXcWfrOt5pEjdlhhWgE89RkouTIxTyH2cjc~zzFoYAx84kv3BtuwvvWZOqkTI2LOR-BEm6PM5-TapPr9O-lA1qs1LWtO2rfMVsw6MlAqGGsRgqXbibKb-rA__&Key-Pair-Id=APKAIE5G5CRDK6RD3PGA)
Clinical presentation of the patient. (A) Genogram for the ERCC6L2-mutated pedigree. The squares denote males, and the circles denote females. The pink arrow shows the proband. The red boxes indicate individuals with MDS/AML. ERCC6L2 mutations were detected in the MDS/AML sample for III-3, but DNA was not available for the other affected individual (III-6). The gray box indicates individuals with detectable ERCC6L2 homozygous mutation without myeloid malignancy (III-1). The hatched box indicates an heterozygous carrier (III-5). No DNA was available from other family members. (B-D) Aspirate showing binuclear erythroblast (A), hyposegmentation of granulocytes (red arrow), (B) and monolobated megakaryocyte; (C) Leishman stained (original magnification ×400 to ×1000). (E) Trephine biopsy showing a hypercellular BM; hematoxylin and eosin–stained section (original magnification ×200). (F) Metaphase representative of the monosomal and complex karyotype 43,XX,der(5)t(5;17)(q14;q21),-7,dic(9;?)(p13;?),-17.- 18[19]/46,XX[1].
