The evolving spectrum of ‘non‐classical’ Diamond‐Blackfan anaemia – a case of eADA positive pancytopenia in a young adult

Abstract

biomarker for CLL (Murphy et al, 2007). In summary, accumulating evidence shows that CLL is characterised by reduced B cell turnover in vivo, consistent with in vitro models of latency; Dameshek's dogma is not dead yet.

Clinical and molecular characteristics of forty Chinese children with essential thrombocythemia: A single‐center, retrospective analysis

“…18,25 In previous reports, the median platelet of children with ET was higher than that of adults with ET (1224 vs. 900 × 10 9 /L, p < 0.001; 1251 vs. 681 × 10 9 /L, p = 0.002). 16,26 The median platelet of 1536 × 10 9 /L in this study was comparable to previous reports. In addition, the median age of onset for children with typical and atypical driver mutations was found to be younger than that of children without driver gene mutations (6, 7, and 12 years, respectively; p = 0.023).…”

Diamond Blackfan anemia 2008–2009: broadening the scope of ribosome biogenesis disorders

“…As mentioned, in addition to RPS19 five other ribosomal protein genes have been shown to be mutated in patients with DBA 11–14. Mutations in these genes account for approximately 50% of DBA cases.…”

“…Indeed, as a consequence of more recent RPS19 mutational analysis in family members of probands the estimated incidence of familial, autosomal dominant DBA has increased from approximately 10–15% to 45% 10. Thus, although the diagnostic criteria for classical DBA remain unchanged, there are numerous patients not meeting these criteria for whom a “non-classical” DBA diagnosis is appropriate 11 (Table 1). Indeed, in 2008 a consensus document developed by a cadre of international experts carefully re-defined DBA on the basis of new laboratory and clinical research 7.…”

“…Indeed, in 2008 a consensus document developed by a cadre of international experts carefully re-defined DBA on the basis of new laboratory and clinical research 7. Consequently, a diagnosis of DBA (or if a re-appellation were ever to be considered, Diamond Blackfan syndrome) may now be suitable for example, in individuals with tri-lineage hypoplasia, little or no anemia, macrocytosis only, a presentation in adulthood, a phenotypically normal parent of an affected offspring, as well as individuals with congenital anomalies or short stature consistent with DBA and minimal or no evidence of abnormal erythropoiesis 7,11,12. In the absence of all four classical criteria (Table 1) a patient may be diagnosed as having non-classical DBA if a known DBA gene mutation is confirmed.…”

“…In the absence of all four classical criteria (Table 1) a patient may be diagnosed as having non-classical DBA if a known DBA gene mutation is confirmed. In the absence of an identifying mutation a diagnosis of probable DBA, with variable degrees of certitude, is appropriate11. Thus, recent advances in the understanding of DBA, in part as a result of data from international Diamond Blackfan anemia registries, are resulting in more sophisticated diagnostic criteria and improvements in clinical care.…”