Of gains and losses: SAMD9/SAMD9L and monosomy 7 in myelodysplastic syndrome

The myeloid neoplasms associated with germline gain-of-function SAMD9/SAMD9L mutations have been included in the WHO 2022 classification. The discovery of SAMD9/SAMD9L-related diseases has revealed some interesting pathobiological mechanisms like a high rate of primary somatic compensation with one of the mechanisms being (transient) monosomy 7 a mechanism also described as “adaption by aneuploidy”. The somatic compensation in the blood can complicate the diagnosis of SAMD9/SAMD9L-related disease when relying on hematopoietic tissues for diagnosis.
Source: Experimental Hematology - Category: Hematology Authors: Source Type: research