Phenotypic and Genomic Analysis of Cystic Hygroma in Pigs
Cystic hygroma is a malformation of the lymphatic and vascular system and is recognized as a benign congenital tumor that affects humans and animals in the perinatal period. This congeni-tal disorder is rarely described in animals, and until today, cystic hygroma in pigs has not been described in th...
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MDPI AG
2021-01-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/12/2/207 |
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| author | Anna Letko Alexandria Marie Schauer Martijn F. L. Derks Llorenç Grau-Roma Cord Drögemüller Alexander Grahofer |
| author_facet | Anna Letko Alexandria Marie Schauer Martijn F. L. Derks Llorenç Grau-Roma Cord Drögemüller Alexander Grahofer |
| author_sort | Anna Letko |
| collection | DOAJ |
| description | Cystic hygroma is a malformation of the lymphatic and vascular system and is recognized as a benign congenital tumor that affects humans and animals in the perinatal period. This congeni-tal disorder is rarely described in animals, and until today, cystic hygroma in pigs has not been described in the literature. In a purebred Piètrain litter with twelve live-born piglets, cystic hy-groma was noticed on the rump of two male pigs within the first week of life. In addition, a third case of a crossbred weaner (Large White × Landrace) was detected during a herd examina-tion. To rule out common differential diagnoses, e.g., abscess or hematoma, further clinical and pathological investigations were conducted. During clinical examination, a painless and soft mass, which was compressible, was detected on the rump of all affected animals. The ultra-sonographic examination revealed a fluid-filled and cavernous subcutaneous structure. In addi-tion, a puncture of the cyst was conducted, revealing a serosanguinous fluid with negative bacte-riological culture. In all cases, a necropsy was performed, showing that the animals had fluid-filled cysts lined by well-differentiated lymphatic endothelium. Based on the clinicopathological examination, cystic hygroma was diagnosed. Furthermore, SNP array genotyping and whole-genome sequencing was performed and provided no evidence for a chromosomal disorder. In the Piètrain family, several genome regions were homozygous in both affected piglets. None-theless, a dominant acting de novo germline variant could not be ruled out, and therefore differ-ent filtering strategies were used to find pathogenic variants. The herein presented lists of pri-vate variants after filtering against hundreds of control genomes provide no plausible candidate and no shared variants among the two sequenced cases. Therefore, further studies are needed to evaluate possible genetic etiology. In general, systematic surveillance is needed to identify ge-netic defects as early as possible and to avoid the occurrence of losses in the pig population. |
| first_indexed | 2024-03-09T06:18:47Z |
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| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-09T06:18:47Z |
| publishDate | 2021-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-6c833e1c9f794645a03a4b3d64c09ea92023-12-03T11:49:34ZengMDPI AGGenes2073-44252021-01-0112220710.3390/genes12020207Phenotypic and Genomic Analysis of Cystic Hygroma in PigsAnna Letko0Alexandria Marie Schauer1Martijn F. L. Derks2Llorenç Grau-Roma3Cord Drögemüller4Alexander Grahofer5Institute of Genetics, Vetsuisse Faculty, University of Bern, 3012 Bern, SwitzerlandInstitute of Animal Pathology, Vetsuisse Faculty, University of Bern, 3012 Bern, SwitzerlandTopigs Norsvin Research Center, 6640 AA Beuningen, The NetherlandsInstitute of Animal Pathology, Vetsuisse Faculty, University of Bern, 3012 Bern, SwitzerlandInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3012 Bern, SwitzerlandClinic for Swine, Vetsuisse Faculty, University of Bern, 3012 Bern, SwitzerlandCystic hygroma is a malformation of the lymphatic and vascular system and is recognized as a benign congenital tumor that affects humans and animals in the perinatal period. This congeni-tal disorder is rarely described in animals, and until today, cystic hygroma in pigs has not been described in the literature. In a purebred Piètrain litter with twelve live-born piglets, cystic hy-groma was noticed on the rump of two male pigs within the first week of life. In addition, a third case of a crossbred weaner (Large White × Landrace) was detected during a herd examina-tion. To rule out common differential diagnoses, e.g., abscess or hematoma, further clinical and pathological investigations were conducted. During clinical examination, a painless and soft mass, which was compressible, was detected on the rump of all affected animals. The ultra-sonographic examination revealed a fluid-filled and cavernous subcutaneous structure. In addi-tion, a puncture of the cyst was conducted, revealing a serosanguinous fluid with negative bacte-riological culture. In all cases, a necropsy was performed, showing that the animals had fluid-filled cysts lined by well-differentiated lymphatic endothelium. Based on the clinicopathological examination, cystic hygroma was diagnosed. Furthermore, SNP array genotyping and whole-genome sequencing was performed and provided no evidence for a chromosomal disorder. In the Piètrain family, several genome regions were homozygous in both affected piglets. None-theless, a dominant acting de novo germline variant could not be ruled out, and therefore differ-ent filtering strategies were used to find pathogenic variants. The herein presented lists of pri-vate variants after filtering against hundreds of control genomes provide no plausible candidate and no shared variants among the two sequenced cases. Therefore, further studies are needed to evaluate possible genetic etiology. In general, systematic surveillance is needed to identify ge-netic defects as early as possible and to avoid the occurrence of losses in the pig population.https://www.mdpi.com/2073-4425/12/2/207<i>Sus scrofa</i>precision medicinelymphatic systemwhole-genome sequencingSNP array genotyping |
| spellingShingle | Anna Letko Alexandria Marie Schauer Martijn F. L. Derks Llorenç Grau-Roma Cord Drögemüller Alexander Grahofer Phenotypic and Genomic Analysis of Cystic Hygroma in Pigs Genes <i>Sus scrofa</i> precision medicine lymphatic system whole-genome sequencing SNP array genotyping |
| title | Phenotypic and Genomic Analysis of Cystic Hygroma in Pigs |
| title_full | Phenotypic and Genomic Analysis of Cystic Hygroma in Pigs |
| title_fullStr | Phenotypic and Genomic Analysis of Cystic Hygroma in Pigs |
| title_full_unstemmed | Phenotypic and Genomic Analysis of Cystic Hygroma in Pigs |
| title_short | Phenotypic and Genomic Analysis of Cystic Hygroma in Pigs |
| title_sort | phenotypic and genomic analysis of cystic hygroma in pigs |
| topic | <i>Sus scrofa</i> precision medicine lymphatic system whole-genome sequencing SNP array genotyping |
| url | https://www.mdpi.com/2073-4425/12/2/207 |
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