Monosomy 7 and Myeloid Malignancies
Risk Stratification and Prognosis
- The National Comprehensive Cancer Network recommends that monosomy 7 be classified as a poor-risk cytogenetic abnormality across all myeloid malignancies, requiring immediate prognostic evaluation using the IPSS-R scoring system 3, 4, 5
- According to the IPSS-R, a poor cytogenetic risk includes -7 as a single abnormality or double abnormalities including -7/del(7q), while a very poor cytogenetic risk includes complex karyotypes (≥3 abnormalities) 5
- The International Prognostic Scoring System (IPSS) categorizes patients with monosomy 7 into high-risk and very high-risk categories, with median overall survival of 21 months and 13 months, respectively 1, 2
Survival Data by IPSS-R Risk Category
- The National Comprehensive Cancer Network reports that high-risk patients have a median overall survival of 21 months, while very high-risk patients have a median overall survival of 13 months 2
- The median time to 25% AML evolution is 1.6 years for high-risk patients and 0.8 years for very high-risk patients 5
Treatment Impact on Survival
- The National Comprehensive Cancer Network recommends azacitidine as a treatment option for high-risk and very high-risk patients, with median survival of 25 months and 15 months, respectively 1
- Allogeneic hematopoietic stem cell transplantation (HSCT) dramatically improves outcomes, with median survival of 40 months for high-risk patients and 31 months for very high-risk patients 1, 2
Immediate Clinical Actions Required
- The American Society of Hematology recommends performing high-resolution molecular HLA typing and initiating unrelated donor search simultaneously if no matched sibling is available 6
- The National Comprehensive Cancer Network recommends obtaining serial somatic gene panels screening for SETBP1, ASXL1, RUNX1, and RAS pathway mutations, as well as analyzing ≥20 metaphases to identify additional chromosomal abnormalities 6
Treatment Algorithm
- For MDS with monosomy 7, the National Comprehensive Cancer Network recommends proceeding directly to allogeneic HSCT if a donor is available, or bridging with azacitidine if awaiting a donor 6
- For AML with monosomy 7, the National Comprehensive Cancer Network recommends induction chemotherapy as a bridge to transplant, followed by myeloablative allogeneic HSCT in first complete remission 6