The Rh blood group system,especially the D antigen,is crucial in transfusion medicine and obstetrics.Weak D phenotypes,caused by mutations in the Rhesus D antigen(RhD)blood group(RHD)gene,result in reduced antigen exp...The Rh blood group system,especially the D antigen,is crucial in transfusion medicine and obstetrics.Weak D phenotypes,caused by mutations in the Rhesus D antigen(RhD)blood group(RHD)gene,result in reduced antigen expression,posing challenges in serological testing and clinical management.Variability in detection methods leads to inconsistent results,making accurate classification difficult.Molecular techniques like polymerase chain reaction and DNA sequencing have significantly improved the identification of weak D variants,offering more reliable transfusion strategies and reducing the risk of alloimmunization.However,challenges such as lack of standardized protocols,cost constraints,and population-specific variations remain.In obstetrics,proper management of pregnant women with weak D is essential to prevent hemolytic disease of the fetus and newborn.Non-invasive prenatal testing using cell-free fetal DNA shows promise in predicting RhD incompatibility and minimizing unnecessary Rh immune globulin administration.Future advancements in highthroughput genotyping and discovery of novel RHD alleles could enhance RhD testing accuracy and efficiency.Standardizing RHD genotyping and adopting genotype-based management strategies for Rh immune globulin therapy and red blood cell transfusions will improve patient safety and clinical outcomes.This review examines the molecular basis,challenges,and future prospects in weak D phenotype management.展开更多
Li-Fraumeni syndrome(LFS)is a well-defined autosomal dominant predisposition syndrome due to TP53 germline mutation that causes many cancer malig-nancies.This early-onset syndrome poses a state of widespread malignanc...Li-Fraumeni syndrome(LFS)is a well-defined autosomal dominant predisposition syndrome due to TP53 germline mutation that causes many cancer malig-nancies.This early-onset syndrome poses a state of widespread malignancy.Such an inherited condition possessing defective p53,guardian of the genome,in the germline has the potential to cause multiple cancers by predominantly affecting mesenchyme(connective tissues,blood cells),breast,brain,and adrenal cortex organs.The tumors initially identified in LFS can eventually propagate to cause secondary malignancies.LFS contributes to multiple cancers in individuals with defective p53 inheritance.When suspected to possess any mass,patients with other co-morbidities,in particular those with certain cardiovascular conditions,undergo screening using high-throughput techniques like transthoracic and transesophageal echocardiography or cardiothoracic magnetic resonance imaging to locate and interpret the size of the mass.In LFS cases,it is certain to presume these masses as cancers and plan their management employing invasive surgeries after performing all efficient diagnostic tools.There are only poor predictions to rule out the chances of any other pathology.This criterion emphasizes the necessity to speculate alternative precision diagnostic methods to affirm such new growth or masses encountered in LFS cases.Moreover,it has all the possibilities to ultimately influence surgical procedures that may be invasive or complicate operative prognosis.Hence,it is essential to strategize an ideal protocol to diagnose any new unexplored mass in the LFS community.In this editorial,we discuss the importance of diagnostic approaches on naïve pristine masses in LFS.展开更多
Different types of neuroendocrine cancer,including medullary thyroid cancer(MTC)and thyroid C-cell hyperplasia,are part of multiple endocrine neoplasia type 2(MEN2).A proto-oncogene mutation of the rearranged during t...Different types of neuroendocrine cancer,including medullary thyroid cancer(MTC)and thyroid C-cell hyperplasia,are part of multiple endocrine neoplasia type 2(MEN2).A proto-oncogene mutation of the rearranged during transfection(RET)gene changes the way that receptor tyrosine kinases work.Multiple endocrine neoplasia,a pathological condition,involves these kinases.When the RET protooncogene changes,it can cause endocrine adenomas and hyperplasia to happen at the same time or one after the other.Pheochromocytoma,medullary thyroid carcinoma,and hyperparathyroidism,alone or in combination,are present in MEN2A patients.Some patients may also have skin lichen amyloidosis or Hirschsprung's disease.Patients with MEN2A often present with MTC.MTC is aggressive and has the worst prognosis,as most patients exhibit lymph node metastasis.MTC is one of the important causes of death in patients with MEN2A.RET mutation analysis aids in identifying MEN2A symptoms and monitoring levels of calcium,thyroid hormones,calcitonin,normetanephrine,fractionated metanephrines,and parathyroid hormone.The earlier diagnosis of MTC significantly improves survival and prompts better management of MEN2A.In this editorial,we will discuss the significance of molecular diagnostic approaches in detecting RET oncogene mutations in MEN2A.展开更多
文摘The Rh blood group system,especially the D antigen,is crucial in transfusion medicine and obstetrics.Weak D phenotypes,caused by mutations in the Rhesus D antigen(RhD)blood group(RHD)gene,result in reduced antigen expression,posing challenges in serological testing and clinical management.Variability in detection methods leads to inconsistent results,making accurate classification difficult.Molecular techniques like polymerase chain reaction and DNA sequencing have significantly improved the identification of weak D variants,offering more reliable transfusion strategies and reducing the risk of alloimmunization.However,challenges such as lack of standardized protocols,cost constraints,and population-specific variations remain.In obstetrics,proper management of pregnant women with weak D is essential to prevent hemolytic disease of the fetus and newborn.Non-invasive prenatal testing using cell-free fetal DNA shows promise in predicting RhD incompatibility and minimizing unnecessary Rh immune globulin administration.Future advancements in highthroughput genotyping and discovery of novel RHD alleles could enhance RhD testing accuracy and efficiency.Standardizing RHD genotyping and adopting genotype-based management strategies for Rh immune globulin therapy and red blood cell transfusions will improve patient safety and clinical outcomes.This review examines the molecular basis,challenges,and future prospects in weak D phenotype management.
文摘Li-Fraumeni syndrome(LFS)is a well-defined autosomal dominant predisposition syndrome due to TP53 germline mutation that causes many cancer malig-nancies.This early-onset syndrome poses a state of widespread malignancy.Such an inherited condition possessing defective p53,guardian of the genome,in the germline has the potential to cause multiple cancers by predominantly affecting mesenchyme(connective tissues,blood cells),breast,brain,and adrenal cortex organs.The tumors initially identified in LFS can eventually propagate to cause secondary malignancies.LFS contributes to multiple cancers in individuals with defective p53 inheritance.When suspected to possess any mass,patients with other co-morbidities,in particular those with certain cardiovascular conditions,undergo screening using high-throughput techniques like transthoracic and transesophageal echocardiography or cardiothoracic magnetic resonance imaging to locate and interpret the size of the mass.In LFS cases,it is certain to presume these masses as cancers and plan their management employing invasive surgeries after performing all efficient diagnostic tools.There are only poor predictions to rule out the chances of any other pathology.This criterion emphasizes the necessity to speculate alternative precision diagnostic methods to affirm such new growth or masses encountered in LFS cases.Moreover,it has all the possibilities to ultimately influence surgical procedures that may be invasive or complicate operative prognosis.Hence,it is essential to strategize an ideal protocol to diagnose any new unexplored mass in the LFS community.In this editorial,we discuss the importance of diagnostic approaches on naïve pristine masses in LFS.
文摘Different types of neuroendocrine cancer,including medullary thyroid cancer(MTC)and thyroid C-cell hyperplasia,are part of multiple endocrine neoplasia type 2(MEN2).A proto-oncogene mutation of the rearranged during transfection(RET)gene changes the way that receptor tyrosine kinases work.Multiple endocrine neoplasia,a pathological condition,involves these kinases.When the RET protooncogene changes,it can cause endocrine adenomas and hyperplasia to happen at the same time or one after the other.Pheochromocytoma,medullary thyroid carcinoma,and hyperparathyroidism,alone or in combination,are present in MEN2A patients.Some patients may also have skin lichen amyloidosis or Hirschsprung's disease.Patients with MEN2A often present with MTC.MTC is aggressive and has the worst prognosis,as most patients exhibit lymph node metastasis.MTC is one of the important causes of death in patients with MEN2A.RET mutation analysis aids in identifying MEN2A symptoms and monitoring levels of calcium,thyroid hormones,calcitonin,normetanephrine,fractionated metanephrines,and parathyroid hormone.The earlier diagnosis of MTC significantly improves survival and prompts better management of MEN2A.In this editorial,we will discuss the significance of molecular diagnostic approaches in detecting RET oncogene mutations in MEN2A.
