Lymphatic research and biology · 2018
Cystic Hygroma: A Preliminary Genetic Study and a Short Review from the Literature.
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Noia Giuseppe, Maltese Paolo Enrico, Zampino Giuseppe, D'Errico Marco, Cammalleri Vittoria, Convertini Paolo, Marceddu Giuseppe, Mueller Martina, Guerri Giulia, Bertelli Matteo
Аннотация
BACKGROUND: The objective of this study is to examine the hypothesis that cystic hygroma (CH) with normal karyotype can manifest as a Mendelian inherited trait, and that a genetic similitude with hereditary lymphedema exists. To reach this goal, we investigated the prevalence of genetic variants in angiogenesis and lymphangiogenesis genes in a cohort of euploid fetuses with CH that almost resolved before delivery. A short review of cases from literature is also reported.
METHODS AND RESULTS: Five fetuses were screened using a next-generation sequencing approach by targeting 33 genes known to be associated with vascular and lymphatic malformations. The genetic evaluation revealed two novel variants in KDR and KRIT1 genes.
CONCLUSION: A review of the literature to date revealed that an association exists between CH and hereditary lymphedema and, similar to lymphedema, CH can be inherited in autosomal recessive and autosomal dominant manner, with the latter most likely associated with a better prognosis. About KDR and KRIT1 genes, no other similar associations are reported in the literature and caution is needed in their interpretation. In conclusion, we thought that a genetic test for the outcome of familial CH could be of enormous prognostic value.
METHODS AND RESULTS: Five fetuses were screened using a next-generation sequencing approach by targeting 33 genes known to be associated with vascular and lymphatic malformations. The genetic evaluation revealed two novel variants in KDR and KRIT1 genes.
CONCLUSION: A review of the literature to date revealed that an association exists between CH and hereditary lymphedema and, similar to lymphedema, CH can be inherited in autosomal recessive and autosomal dominant manner, with the latter most likely associated with a better prognosis. About KDR and KRIT1 genes, no other similar associations are reported in the literature and caution is needed in their interpretation. In conclusion, we thought that a genetic test for the outcome of familial CH could be of enormous prognostic value.
Предметные рубрики MeSH
FemaleFetusGene ExpressionGenetic TestingHead and Neck NeoplasmsHigh-Throughput Nucleotide SequencingHumansInheritance PatternsKRIT1 ProteinKaryotypingLymphangiogenesisLymphangioma, CysticLymphedemaMaleModels, GeneticMutationNeovascularization, PathologicPrognosisUltrasonographyVascular Endothelial Growth Factor Receptor-2