RESUMO
Telomerase Reverse Transcriptase (TERT) encodes the telomerase reverse transcriptase enzyme and is the most frequently mutated gene in patients with telomeropathies. Heterozygous variants impair telomerase activity by haploinsufficiency and pathogenic variants are associated with bone marrow failure syndrome and predisposition to acute myeloid leukaemia. Owing to their rarity, telomeropathies are often unrecognised and misdiagnosed. Herein, we report a novel TERT gene variant, c.2605G > A p.(Asp869Asn) in a family with hereditary aplastic anaemia. This report emphasises the importance of routine deep genetic screening for rare TERT variants in patients with a family history of cytopenia or aplastic anaemia, which could identify clinically inapparent telomere disorders.
RESUMO
BACKGROUND: The minimal residual disease (MRD) level in patients with B-precursor acute lymphoblastic leukemia (B-ALL) is the strongest independent predictor of relapse and survival. Assessment of MRD plays a crucial role in the treatment of B-ALL. CASE REPORT: We performed long-term monitoring of a 30-year-old woman with B-ALL of standard risk for MRD using multiparametric flow cytometry (MFC). After five years of monitoring, molecular relapse of the disease was confirmed. CONCLUSION: This case illustrates that more extended monitoring for MRD, even by only MFC when other newer sophisticated diagnostics are not available, is essential in detecting early relapse in patients with B-ALL of standard risk. HIPPOKRATIA 2022, 26 (1):38-40.
RESUMO
AIM: Primary resistant acute myeloid leukemia has a very poor prognosis. We assessed pretreatment parameters for their significance as prognostic factors in the overall survival (OS) of 53 acute myeloid leukemia (AML) patients who had failed to achieve complete remission (CR) after first-line standard-dose remission-induction therapy. RESULTS: During the period January 2005-December 2009, 53 with acute myeloid leukemia received two cycles of the 3+7 protocol as a first-line standard-dose remission-induction therapy (ARA-C, days 1-7 and daunorubicin, days 1-3). The HiDAC (5 patients), MiDAC (7 patients), and FLAG-IDA protocols (3 patients) were given as salvage therapy. None of these patients achieved CR. There were 27 (51%) males and 26 (49%) females (median age, 55 years, range 28-76). The median white blood cell count was 53 (range 0.9 -350)×10(9)/L, platelets 44 (range 3-856×10(9)/l) and bone marrow blasts 67%. HCT-IC comorbidity scores were 3 in two (3.8%) patients, 2 in 11 (20.8%), 1 in 12 (22.6%) and 0 in 16 (30.2%) patients. Median OS was 3.9 months (range 1 -20 months). The hepatomegaly, white blood cell count, ECOG PS, serum level of lactate dehydrogenase, dysplastic changes, coexpression of CD64, CD15, CD11b, comorbidities and disease cytogenetics influenced survival. CONCLUSION: This single-center study evaluated the significance of pretreatment factors, and found that patient age, comorbidities, ECOG performance status, leukocytosis, hepatomegaly, LDH, and the disease cytogenetics were factors which influenced the outcomes of primary resistant patients with acute myeloid leukemia. An understanding of these factors may help to predict OS in cases where CR has not been achieved and may help when making further treatment decisions.