The presence of chromosomal abnormalities is one of the most important criteria for leukaemia diagnosis and management. Infant leukaemia is a rare disease that affects children in their first year of life. It has been estimated that approximately one third of infants with acute myeloid leukaemia harbour the t(7;12)(q36;p13) rearrangement in their leukaemic blasts. However, the WHO classification of acute myeloid leukaemia does not yet include the t(7;12) as a separate entity among the different genetic subtypes, although the presence of this chromosomal abnormality has been associated with an extremely poor clinical outcome. Currently, there is no consensus treatment for t(7;12) leukaemia patients. However, with the inferior outcome with the standard induction therapy, stem cell transplantation may offer a better chance for disease control. A better insight into the chromosome biology of this entity might shed some light into the pathogenic mechanisms arising from this chromosomal translocation, that at present are not fully understood. Further work is needed to improve our understanding of the molecular and genetic basis of this disorder. This will hopefully open some grounds for possible tailored treatment for this subset of very young patients with inferior disease outcome. This review aims at highlighting the cytogenetic features that characterise the t(7;12) leukaemias for a better detection of the abnormality in the diagnostic setting. We also review treatment and clinical outcome in the cases reported to date.

Background: While research shows childhood cancer survivors experience elevated subsequent primary neoplasm (SPN) and premature mortality risks, few studies have included contemporary survivors. Methods: This study quantifies the risk of SPNs and mortality among modern survivors of childhood cancer. Utilizing a retrospective, population-based cohort of individuals diagnosed with cancer before the age of 18 in Alberta, Canada (2001–2018), we evaluated their risks of SPNs and mortality compared to the general population in Alberta, overall and after 5-year survival, using standardized mortality and incidence ratios, and absolute excess risks per 10,000 person-years. Results: Among 2581 survivors, including 1385 5-year survivors, 50 individuals developed at least one SPNs and 408 deaths were observed, with 21 SPNs and 38 deaths occurring after 5-year survival. The SPN incidence was 13.3- (95% CI: 9.8–17.5) and 10.0-fold (95% CI: 6.2–15.2) higher than expected overall and in 5-year survivors, respectively, with risks varying depending on the treatment received. For mortality, survivors experienced 62.5-fold (95% CI: 56.5–68.8) higher mortality than expected overall, equating to 233.9 (95% CI: 210.8–257.0) excess deaths per 10,000 person-years, with corresponding risks among 5-year survivors at 10.9 (95% CI: 7.7–15.0) and 43.8 (95% CI: 28.4–59.1), respectively. The excess deaths were predominantly due to recurrence/progression (89.9% overall, 66.4% in 5-year survivors), with SPNs and non-neoplastic causes contributing more excess deaths with increasing follow-up time. Risks for mortality included treatment and cancer type. Conclusions: Contemporary childhood cancer survivors in Alberta experience substantial excess SPNs and mortality, highlighting the need for long-term surveillance and tailored risk mitigation interventions.

In allogeneic hematopoietic cell transplantation (HCT), a minority of patients have access to a suitable human leukocyte antigen (HLA)-matched related donor (MRD). To fill this gap, matched unrelated donors (MUDs) are an increasingly selected donor source. Usage and outcomes after MUD HCT for Canada are not described. We investigated temporal trends in MUD compared to MRD HCT from 2000 to 2019 using data reported to the Cell Therapy and Transplant Canada (CTTC) Registry. Of 7571 first allogeneic HCTs between 2000 and 2019, the proportion of MUD HCTs rose from 35.1% to 56.3% in the early (2000–2009) and later (2010–2019) eras, respectively. Comparing the two donor sources, the 5-year overall survival (OS) after MUD HCT for patients with malignant diseases was inferior to MRD HCT in the early era (p < 0.001). However, in the later era, OS was comparable for the two donor sources (p = 0.969). For patients with non-malignant diseases, the 5-year OS after MUD HCT was inferior to MRD in the early era (p < 0.001), but in the later era, the 5-year OS was similar between the two donor sources (p = 0.209). Improvements in OS after MUD HCT were accompanied by corresponding reductions in the 2-year non-relapse mortality after MUD HCT. We conclude that MUDs are the most common donor source in Canada, and key clinical outcomes after MUD have improved over time.