Androgenetic/biparental mosaicism in an infant with hepatic mesenchymal hamartoma and placental mesenchymal dysplasia

Pediatric and Developmental Pathology

Volumn 11, Issue 5, 2008, Pages 377-383

  Reed, Robyn C ^a   Beischel, Linda ^b   Schoof, Jonathan ^b   Johnson, John ^b   Raff, Michael L ^a,c   Kapur, Raj P ^a  

^a SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^b Shodair Children's Hospital   (United States)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

Androgenetic; Biparental; Mesenchymal hamartoma; Mosaicism; Parental imprinting; Placental mesenchymal dysplasia; Uniparental disomy

Indexed keywords

GENE PRODUCT;

ARTICLE; BECKWITH WIEDEMANN SYNDROME; CASE REPORT; CHROMOSOME MARKER; DIAGNOSTIC PROCEDURE; FEMALE; GENOMICS; HAMARTOMA; HEPATIC MESENCHYMAL HAMARTOMA; HISTOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; METHYLATION; MOSAICISM; PATHOGENESIS; PATHOLOGY; PLACENTA DISORDER; PLACENTA MESENCHYMAL DYSPLASIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; UNIPARENTAL DISOMY;

CESAREAN SECTION; FEMALE; FOLLOW-UP STUDIES; HAMARTOMA; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT, NEWBORN; LIVER DISEASES; MOSAICISM; PLACENTA DISEASES; PREGNANCY; PREGNANCY TRIMESTER, THIRD; TIME FACTORS; TREATMENT OUTCOME; UNIPARENTAL DISOMY;

EID: 55849092008     PISSN: 10935266     EISSN: 16155742     Source Type: Journal    
DOI: 10.2350/07-12-0401.1     Document Type: Article

References (29)

1. Parveen Z, Tongson-Ignacio JE, Fraser CR, Killeen JL, Thompson KS. Placental mesenchymal dysplasia. Arch Pathol Lab Med 2007;131:131-137.
2. Pham T, Steele J, Stayboldt C, Chan L, Benirschke K. Placental mesenchymal dysplasia is associated with high rates of intrauterine growth restriction and fetal demise: a report of 11 new cases and a review of the literature. Am J Clin Pathol 2006;126:67-78.
3. Kaiser-Rogers KA, McFadden DE, Livasy CA, et al. Androgenetic/biparental mosaicism causes placental mesenchymal dysplasia. J Med Genet 2006;43:187-192.
4. Robinson WP, Lauzon JL, Innes AM, Lim K, Arsovska S, McFadden DE. Origin and outcome of pregnancies affected by androgenetic/biparental chimerism. Hum Reprod 2007;22:1114-1122.
5. Hoffner L, Dunn J, Esposito N, Macpherson T, Surti U. p57(KIP2) immunostaining and molecular cytogenetics: combined approach aids in diagnosis of morphologically challenging cases with molar phenotype and in detecting androgenetic cell lines in mosaic/chimeric conceptions. Hum Pathol 2007;39:63-72.
6. Schuetzle MN, Uphoff TS, Hatten BA, Dawson DB. Utility of microsatellite analysis in evaluation of pregnancies with placental mesenchymal dysplasia. Prenat Diagn 2007;27:1238-1244.
7. Wilson M, Peters G, Bennetts B, et al. The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports. Am J Med Genet A 2007;146A:137-148.
8. Reed R, Kapur R. Hepatic mesenchymal hamartoma: a disorder of imprinting? Pediatr Dev Pathol 2008;11:264-265.
9. Chao LY, Huff V, Tomlinson G, Riccardi VM, Strong LC, Saunders GF. Genetic mosaicism in normal tissues of Wilms' tumour patients. Nat Genet 1993;3:127-131.
10. Kubota T, Das S, Christian SL, Baylin SB, Herman JG, Ledbetter DH. Methylation-specific PCR simplifies imprinting analysis. Nat Genet 1997;16:16-17.
11. Thaker HM, Berlin A, Tycko B, et al. Immunohistochemistry for the imprinted gene product IPL/PHLDA2 for facilitating the differential diagnosis of complete hydatidiform mole. J Reprod Med 2004;49:630-636.
12. Sutcliffe JS, Nakao M, Christian S, et al. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genet 1994;8:52-58.
13. Matsuoka S, Thompson JS, Edwards MC, et al. Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15. Proc Natl Acad Sci USA 1996;93:3026-3030.
14. Qian N, Frank D, O'Keefe D, et al. The IPL gene on chromosome 11p15.5 is imprinted in humans and mice and is similar to TDAG51, implicated in Fas expression and apoptosis. Hum Mol Genet 1997;6:2021-2029.
15. Fisher RA, Hodges MD, Rees HC, et al. The maternally transcribed gene p57(KIP2) (CDNK1C) is abnormally expressed in both androgenetic and biparental complete hydatidiform moles. Hum Mol Genet 2002;11:3267-3272.
16. Kato H, Matsuda T, Hirakawa T, et al. Differential diagnosis between complete and partial mole by TSSC3 antibody completely correlates to DNA diagnosis. Diagn Mol Pathol 2005;14:164-169.
17. Saxena A, Frank D, Panichkul P, Van den Veyver IB, Tycko B, Thaker H. The product of the imprinted gene IPL marks human villous cytotrophoblast and is lost in complete hydatidiform mole. Placenta 2003;24:835-842.
18. Castrillon DH, Sun D, Weremowicz S, Fisher RA, Crum CP, Genest DR. Discrimination of complete hydatidiform mole from its mimics by immunohistochemistry of the paternally imprinted gene product p57KIP2. Am J Surg Pathol 2001;25:1225-1230.
19. Sebire NJ, Lindsay I. p57KIP2 immunostaining in the diagnosis of complete versus partial hydatidiform moles. Histopathology 2006;48:873-874.
20. Giurgea I, Sanlaville D, Fournet JC, et al. Congenital hyperinsulinism andmosaic abnormalities of the ploidy. J Med Genet 2006;43:248-254.
21. Hoban PR, Heighway J, White GR, et al. Genome-wide loss of maternal alleles in a nephrogenic rest and Wilms' tumour from a BWS patient. Hum Genet 1995;95:651-656.
22. Cajaiba MM, Sarita-Reyes C, Zambrano E, Reyes-Mugica M. Mesenchymal hamartoma of the liver associated with features of Beckwith-Wiedemann syndrome and high serum alpha-fetoprotein levels. Pediatr Dev Pathol 2007;10:233-238.
23. Yoo S-H, Park HJ, Cho SY, Kim CJ. Mesenchymal hamartoma of the liver in Beckwith-Wiedemann syndrome: a case report. Korean J Pathol 2002;36:425-428.
24. Garcia-de-la-Torre JP, Sotelo-Rodriguez MT, Santos-Briz A, Rodriguez-Paralto JL. Mesenchymal hamartoma of the liver in Beckwith-Wiedemann syndrome: the first reported case. Pediatr Pathol Mol Med 2000;19:455-460.
25. Cohen MM Jr. Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives. Pediatr Dev Pathol 2005;8:287-304.
26. Rakheja D, Margraf LR, Tomlinson GE, Schneider NR. Hepatic mesenchymal hamartoma with translocation involving chromosome band 19q13.4: a recurrent abnormality. Cancer Genet Cytogenet 2004;153:60-63.
27. Talmon GA, Cohen SM. Mesenchymal hamartoma of the liver with an interstitial deletion involving chromosome band 19q13.4: a theory as to pathogenesis? Arch Pathol Lab Med 2006;130:1216-1218.
28. Kohda T, Asai A, Kuroiwa Y, et al. Tumour suppressor activity of human imprinted gene PEG3 in a glioma cell line. Genes Cells 2001;6:237-247.
29. Coffee B, Muralidharan K, Highsmith WE Jr, Lapunzina P, Warren ST. Molecular diagnosis of Beckwith-Wiedemann syndrome using quantitative methylation-sensitive polymerase chain reaction. Genet Med 2006;8:628-634.