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A previous literature review found at least 4/9 (>=44.4%) CMMRD-associated ALL were T-ALL [[1]], and 8/88 (9.1%, 95% CI: 0.4-17.1%) childhood T-LBL patients were diagnosed with CMMRD in a consecutive series between 2007 and 2020 [[15]], suggesting an association of CMMRD with T cell lineage malignancies. For example, PCR-fragment length analysis has been shown to be insensitive to MSH6 deficiency in ALL relapse samples [[3]], and detected increased MSI in only 27% of CMMRD haematological malignancies and in 0% of non-neoplastic CMMRD tissues [[9]]. Here, 1/17 (5.9%, 95% CI: 0.2-28.7%) ALL patients with SMN had CMMRD, which is similar to the 14/189 (7.4%, 95% CI: 4.1-12.1%) pediatric non-Hodgkin lymphoma patients with SMN who had CMMRD in another recent study [[16]]. Constitutional mismatch repair deficiency (CMMRD, MIM #276300) is a rare, recessive pediatric and adolescent cancer syndrome, caused by pathogenic variants in a mismatch repair (MMR) gene: I MLH1 i , I MSH2 i , I MSH6 i , or I PMS2 i . [Extracted from the article]

The presence of multiple bleeding symptoms and/or severe bleeding symptom(s) contribute to a higher score and therefore a greater chance of a bleeding disorder diagnosis. There is bleeding at a critical site (e.g., ICH, retinal haemorrhage, gastrointestinal haemorrhage, intraspinal haemorrhage, haemarthrosis) with no correlating history of trauma or other explanation that adequately accounts for the bleeding. ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders. A standardised bleeding assessment tool, e.g., the International Society for Haemostasis and Thrombosis Bleeding Assessment Tool (ISTH-BAT), can be used to quantitate bleeding symptoms in order to generate a bleeding score. [Extracted from the article]

A coagulation screen is an important screening test when investigating a child who presents with easy bruising or bleeding. Interpretation of a coagulation screen can be challenging for clinicians. Evolution of the haemostasis system during childhood means normal ranges vary with age and needs to be interpreted alongside the clinical information. It is essential to consider preanalytical variables when interpreting a coagulation screen, and the reason for the investigation must always be considered. It is important that the sample is taken under optimal conditions, including sample technique, use of the correct bottle and prompt transport to the laboratory. An abnormal coagulation screen may indicate an underlying congenital bleeding disorder or an acquired bleeding disorder, or may be due to sampling error. Limitations of the coagulation screen are essential to be aware of, as some children with normal coagulation screen results may have bleeding disorders. Conversely, an abnormal coagulation screen does not always indicate a bleeding disorder. [ABSTRACT FROM AUTHOR]

Iron studies are frequently requested in paediatric practice. They are useful both as a diagnostic tool and as a way of monitoring certain conditions, particularly those causing iron overload. This article outlines the physiology of iron metabolism and discusses laboratory aspects of performing iron studies, including factors influencing interpretation. Clinical scenarios are used to highlight how the tests can be used in different clinical situations. [ABSTRACT FROM AUTHOR]

The diagnostic relevance of the blood film cannot be underestimated in the assessment of children with suspected primary or secondary haematological conditions. The blood film not only serves as a diagnostic tool but also allows for screening, monitoring of disease progression and therapeutic response in children with a variety of haematological conditions. This article outlines the appearance of normal paediatric and neonatal blood films. The technical aspects involved in preparing a blood film are discussed. Consideration is given to the indications for preparing a blood film and some of the limitations of blood films. Finally, attempts are made to highlight the role of the blood film in the diagnosis of some common paediatric and neonatal conditions. [ABSTRACT FROM AUTHOR]

Clinical uses for recombinant human erythropoietin (rHuEPO) therapy continue to expand. Initial use was in anaemia associated with end-stage renal disease, but more recently there have been many reports of the benefits of erythropoietin in other clinical situations such as cancer-related anaemia. Recombinant erythropoietin reduces the need for blood transfusion and hence exposure to donor blood products as well as improving quality of life. We report four patients who were transfusion dependent, none of whom had licensed indications for the use of recombinant erythropoietin. Two patients had microangiopathic haemolytic anaemia secondary to mechanical valve haemolysis and were unsuitable for any further cardiac intervention. One patient had anaemia of chronic disease and anti-Vel red cell antibodies, making compatible blood transfusions difficult to obtain. The fourth patient had primary thrombocythaemia and developed transfusion-dependent anaemia secondary to myelosuppressive agents. All four patients had a relative deficiency in endogenous erythropoietin levels ranging between 7 and 41?IU/l. After commencing recombinant erythropoietin therapy, all had a response in haemoglobin of at least 1?g/dl with an overall improvement in their quality of life. We conclude that rHuEPO is a very convenient and useful form of treatment in transfusion-dependent anaemia and in some cases beyond the licensed indications.The Hematology Journal (2004) 5, 181-185. doi:10.1038/sj.thj.6200350 [ABSTRACT FROM AUTHOR]

Iron studies are frequently requested in paediatric practice. They are useful both as a diagnostic tool and as a way of monitoring certain conditions, particularly those causing iron overload. This article outlines the physiology of iron metabolism and discusses laboratory aspects of performing iron studies, including factors influencing interpretation. Clinical scenarios are used to highlight how the tests can be used in different clinical situations. [ABSTRACT FROM AUTHOR]