Incidence of Fanconi anaemia in phenotypically normal aplastic anaemia patients in West Bengal

Dutta, Anjan; De, Rajib; Dolai, Tuphan Kanti; Pal, Pritha; Ghosh, Shanoli; Mitra, Pinaki; Halder, Arijit

doi:10.1080/10245332.2017.1422322

Cited by 1 publication

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“…Moreover, increasing genetic testing availability and utilization has led to the expansion of the recognized phenotypes of IBMFS to include children without classic dysmorphic physical features. For example, at least 20% of individuals with Fanconi anemia do not have any physical stigmata prior to the onset of sAA (Dutta et al., 2018). Thus, strategically applied genetic testing is needed to aid in diagnosis of these disorders.…”

Section: Introductionmentioning

confidence: 99%

Incorporating genetic counseling into the evaluation of pediatric bone marrow failure

Schneider¹,

Suttman²,

McKinney³

et al. 2021

Journal of Genetic Counseling

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The timely identification of germline genetic causes of pediatric bone marrow failure (BMF) impacts medical screening practices, family counseling, therapeutic decisionmaking, and risk of progression to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). At diagnosis, treatment decisions need to be made quickly to mitigate risks associated with profound cytopenias. As genetic testing options are rapidly evolving, an efficient multi-disciplinary approach and algorithm, including early involvement of a genetics team, is needed to expedite diagnosis and therapeutic decision-making. This process aids in the identification of appropriate candidates for molecular genetic testing. We present our single center experience reviewing the implementation of genetic counseling and a diagnostic and therapeutic algorithm used to guide genetic evaluation of pediatric BMF. Disease-specific next-generation sequencing (NGS) panels were most often pursued in patients who presented with a clinical phenotype consistent with a known inherited BMF syndrome and when trying to reduce incidental or uninformative results. Broader BMF NGS panels were most often utilized when unable to narrow the suspected etiology to a single disorder. Whole exome sequencing helped with optimizing treatment decision-making in higher risk children with BMF who required expedited hematopoietic stem cell transplantation. The experience has led to improvements to our process for evaluating patients with BMF.

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Section: Introductionmentioning

confidence: 99%

Incorporating genetic counseling into the evaluation of pediatric bone marrow failure

Schneider¹,

Suttman²,

McKinney³

et al. 2021

Journal of Genetic Counseling

View full text Add to dashboard Cite

show abstract

Incidence of Fanconi anaemia in phenotypically normal aplastic anaemia patients in West Bengal

Abstract: This observation may indicate that stress cytogenetics analysis of phenotypically normal AA patients (≤50 years) is essential for the improvement of the treatment procedure.

Cited by 1 publication

References 23 publications

Incorporating genetic counseling into the evaluation of pediatric bone marrow failure

Incorporating genetic counseling into the evaluation of pediatric bone marrow failure

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