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Molecular diagnosis of gestational trophoblastic disease

Pages 1023-1034 | Published online: 09 Jan 2014

References

  • Kohorn EI. Gestational trophoblastic neoplasia and evidence-based medicine. J. Reprod. Med.47(6), 427–432 (2002).
  • Kohorn EI. Negotiating a staging and risk factor scoring system for gestational trophoblastic neoplasia. A progress report. J. Reprod. Med.47(6), 445–450 (2002).
  • Berkowitz RS, Goldstein DP. Clinical practice. Molar pregnancy. N. Engl. J. Med.360(16), 1639–1645 (2009).
  • Hui P, Martel M, Parkash V. Gestational trophoblastic diseases: recent advances in histopathologic diagnosis and related genetic aspects. Adv. Anat. Pathol.12(3), 116–125 (2005).
  • Genest DR. Partial hydatidiform mole: clinicopathological features, differential diagnosis, ploidy and molecular studies, and gold standards for diagnosis. Int. J. Gynecol. Pathol.20(4), 315–322 (2001).
  • Feltmate CM, Growdon WB, Wolfberg AJ et al. Clinical characteristics of persistent gestational trophoblastic neoplasia after partial hydatidiform molar pregnancy. J. Reprod. Med.51(11), 902–906 (2006).
  • Fukunaga M, Katabuchi H, Nagasaka T, Mikami Y, Minamiguchi S, Lage JM. Interobserver and intraobserver variability in the diagnosis of hydatidiform mole. Am. J. Surg. Pathol.29(7), 942–947 (2005).
  • Howat AJ, Beck S, Fox H et al. Can histopathologists reliably diagnose molar pregnancy? J. Clin. Pathol.46(7), 599–602 (1993).
  • Javey H, Borazjani G, Behmard S, Langley FA. Discrepancies in the histological diagnosis of hydatidiform mole. Br. J. Obstet. Gynaecol.86(6), 480–483 (1979).
  • Kajii T, Ohama K. Androgenetic origin of hydatidiform mole. Nature268(5621), 633–634 (1977).
  • Bifulco C, Johnson C, Hao L, Kermalli H, Bell S, Hui P. Genotypic analysis of hydatidiform mole: an accurate and practical method of diagnosis. Am. J. Surg. Pathol.32(3), 445–451 (2008).
  • Lipata F, Parkash V, Talmor M et al. Precise DNA genotyping diagnosis of hydatidiform mole. Obstet. Gynecol.115(4), 784–794 (2010).
  • Szulman AE, Surti U. The syndromes of hydatidiform mole. I. Cytogenetic and morphologic correlations. Am. J. Obstet. Gynecol.131(6), 665–671 (1978).
  • Szulman AE. Syndromes of hydatidiform moles. Partial vs. complete. J. Reprod. Med.29(11), 788–791 (1984).
  • Jacobs PA, Angell RR, Buchanan IM, Hassold TJ, Matsuyama AM, Manuel B. The origin of human triploids. Ann. Hum. Genet.42(1), 49–57 (1978).
  • Jacobs PA, Szulman AE, Funkhouser J, Matsuura JS, Wilson CC. Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole. Ann. Hum. Genet.46(Pt 3), 223–231 (1982).
  • Kajii T, Ferrier A, Niikawa N, Takahara H, Ohama K, Avirachan S. Anatomic and chromosomal anomalies in 639 spontaneous abortuses. Hum. Genet.55(1), 87–98 (1980).
  • Wake N, Fujino T, Hoshi S et al. The propensity to malignancy of dispermic heterozygous moles. Placenta8(3), 319–326 (1987).
  • Wake N, Seki T, Fujita H et al. Malignant potential of homozygous and heterozygous complete moles. Cancer Res.44(3), 1226–1230 (1984).
  • Davis JR, Surwit EA, Garay JP, Fortier KJ. Sex assignment in gestational trophoblastic neoplasia. Am. J. Obstet. Gynecol.148(6), 722–725 (1984).
  • Fisher RA, Lawler SD. Heterozygous complete hydatidiform moles: do they have a worse prognosis than homozygous complete moles? Lancet2(8393), 51 (1984).
  • Fisher RA, Khatoon R, Paradinas FJ, Roberts AP, Newlands ES. Repetitive complete hydatidiform mole can be biparental in origin and either male or female. Hum. Reprod.15(3), 594–598 (2000).
  • Helwani MN, Seoud M, Zahed L, Zaatari G, Khalil A, Slim R. A familial case of recurrent hydatidiform molar pregnancies with biparental genomic contribution. Hum. Genet.105(1–2), 112–115 (1999).
  • Hayward BE, De Vos M, Talati N et al. Genetic and epigenetic analysis of recurrent hydatidiform mole. Hum. Mutat.30(5), E629–E639 (2009).
  • Van den Veyver IB, Al-Hussaini TK. Biparental hydatidiform moles: a maternal effect mutation affecting imprinting in the offspring. Hum. Reprod. Update12(3), 233–242 (2006).
  • Hodges MD, Rees HC, Seckl MJ, Newlands ES, Fisher RA. Genetic refinement and physical mapping of a biparental complete hydatidiform mole locus on chromosome 19q13.4. J. Med. Genet.40(8), e95 (2003).
  • Redline RW, Hassold T, Zaragoza MV. Prevalence of the partial molar phenotype in triploidy of maternal and paternal origin. Hum. Pathol.29(5), 505–511 (1998).
  • Uchida IA, Freeman VC. Triploidy and chromosomes. Am. J. Obstet. Gynecol.151(1), 65–69 (1985).
  • Lage JM, Mark SD, Roberts DJ, Goldstein DP, Bernstein MR, Berkowitz RS. A flow cytometric study of 137 fresh hydropic placentas: correlation between types of hydatidiform moles and nuclear DNA ploidy. Obstet. Gynecol.79(3), 403–410 (1992).
  • Lage JM, Bagg A. Hydatidiform moles: DNA flow cytometry, image analysis and selected topics in molecular biology. Histopathology28(4), 379–382 (1996).
  • Lage JM, Popek EJ. The role of DNA flow cytometry in evaluation of partial and complete hydatidiform moles and hydropic abortions. Semin. Diagn. Pathol.10(3), 267–274 (1993).
  • Gschwendtner A, Neher A, Kreczy A, Muller-Holzner E, Volgger B, Mairinger T. DNA ploidy determination of early molar pregnancies by image analysis: comparison to histologic classification. Arch. Pathol. Lab. Med.122(11), 1000–1004 (1998).
  • Zaragoza MV, Surti U, Redline RW, Millie E, Chakravarti A, Hassold TJ. Parental origin and phenotype of triploidy in spontaneous abortions: predominance of diandry and association with the partial hydatidiform mole. Am. J. Hum. Genet.66(6), 1807–1820 (2000).
  • Esteban JM, Sheibani K, Owens M, Joyce J, Bailey A, Battifora H. Effects of various fixatives and fixation conditions on DNA ploidy analysis. A need for strict internal DNA standards. Am. J. Clin. Pathol.95(4), 460–466 (1991).
  • Cheville JC, Greiner T, Robinson RA, Benda JA. Ploidy analysis by flow cytometry and fluorescence in situ hybridization in hydropic placentas and gestational trophoblastic disease. Hum. Pathol.26(7), 753–757 (1995).
  • Yver M, Carles D, Bloch B, Bioulac-Sage P, Martin Negrier ML. Determination of DNA ploidy by fluorescence in situ hybridization (FISH) in hydatidiform moles: evaluation of FISH on isolated nuclei. Hum. Pathol.35(6), 752–758 (2004).
  • Maggiori MS, Peres LC. Morphological, immunohistochemical and chromosome in situ hybridization in the differential diagnosis of hydatidiform mole and hydropic abortion. Eur. J. Obstet. Gynecol. Reprod. Biol.135(2), 170–176 (2007).
  • Lescoat D, Jouan H, Loeuillet-Olivo L, Le Calve M. Fluorescent in situ hybridization (FISH) on paraffin-embedded placental tissues as an adjunct for understanding the etiology of early spontaneous abortion. Prenat. Diagn.25(4), 314–317 (2005).
  • Surti U, Szulman AE, O’Brien S. Complete (classic) hydatidiform mole with 46,XY karyotype of paternal origin. Hum. Genet.51(2), 153–155 (1979).
  • Ohama K, Kajii T, Okamoto E et al. Dispermic origin of XY hydatidiform moles. Nature292(5823), 551–552 (1981).
  • Ohama K, Okamoto E, Nomura K, Fujiwara A, Fukuda Y. [Genetic studies of hydatidiform mole with 46,XY karyotype (author’s transl)]. Nippon Sanka Fujinka Gakkai Zasshi33(10), 1664–1668 (1981).
  • Fisher RA, Povey S, Lawler SD, Martin CA, Abeliovich D. The human chorionic gonadotrophin α subunit gene in gestational trophoblastic disease. 1. Restriction fragment length polymorphisms in hydatidiform moles. Dis. Markers5(4), 237–245 (1987).
  • Ko TM, Hsieh CY, Ho HN, Hsieh FJ, Lee TY. Restriction fragment length polymorphism analysis to study the genetic origin of complete hydatidiform mole. Am. J. Obstet. Gynecol.164(3), 901–906 (1991).
  • Wallace DC, Surti U, Adams CW, Szulman AE. Complete moles have paternal chromosomes but maternal mitochondrial DNA. Hum. Genet.61(2), 145–147 (1982).
  • Lawler SD, Pickthall VJ, Fisher RA, Povey S, Evans MW, Szulman AE. Genetic studies of complete and partial hydatidiform moles. Lancet2(8142), 580 (1979).
  • Fan JB, Surti U, Taillon-Miller P et al. Paternal origins of complete hydatidiform moles proven by whole genome single-nucleotide polymorphism haplotyping. Genomics79(1), 58–62 (2002).
  • Zhivotovsky LA, Bennett L, Bowcock AM, Feldman MW. Human population expansion and microsatellite variation. Mol. Biol. Evol.17(5), 757–767 (2000).
  • Collins PJ, Hennessy LK, Leibelt CS, Roby RK, Reeder DJ, Foxall PA. Developmental validation of a single-tube amplification of the 13 CODIS STR loci, D2S1338, D19S433, and amelogenin: the AmpFlSTR Identifiler PCR Amplification Kit. J. Forensic Sci.49(6), 1265–1277 (2004).
  • Abeln EC, Cornelisse CJ, Dreef EJ, Kuipers-Dijkshoorn NJ, Hogendoorn PC. Molecular identification of a partial hydatidiform mole. Diagn. Mol. Pathol.6(1), 58–63 (1997).
  • Bell KA, Van Deerlin V, Addya K, Clevenger CV, Van Deerlin PG, Leonard DG. Molecular genetic testing from paraffin-embedded tissue distinguishes nonmolar hydropic abortion from hydatidiform mole. Mol. Diagn.4(1), 11–19 (1999).
  • Lai CY, Chan KY, Khoo US et al. Analysis of gestational trophoblastic disease by genotyping and chromosome in situ hybridization. Mod. Pathol.17(1), 40–48 (2004).
  • Popiolek DA, Yee H, Mittal K et al. Multiplex short tandem repeat DNA analysis confirms the accuracy of p57(KIP2) immunostaining in the diagnosis of complete hydatidiform mole. Hum. Pathol.37(11), 1426–1434 (2006).
  • McConnell TG, Murphy KM, Hafez M, Vang R, Ronnett BM. Diagnosis and subclassification of hydatidiform moles using p57 immunohistochemistry and molecular genotyping: validation and prospective analysis in routine and consultation practice settings with development of an algorithmic approach. Am. J. Surg. Pathol.33(6), 805–817 (2009).
  • Murphy KM, McConnell TG, Hafez MJ, Vang R, Ronnett BM. Molecular genotyping of hydatidiform moles: analytic validation of a multiplex short tandem repeat assay. J. Mol. Diagn.11(6), 598–605 (2009).
  • Van Deerlin VM, Leonard DG. Bone marrow engraftment analysis after allogeneic bone marrow transplantation. Clin. Lab. Med.20(1), 197–225 (2000).
  • Nollet F, Billiet J, Selleslag D, Criel A. Standardisation of multiplex fluorescent short tandem repeat analysis for chimerism testing. Bone Marrow Transplant.28(5), 511–518 (2001).
  • Fisher RA, Nucci MR, Thaker HM, Weremowicz S, Genest DR, Castrillon DH. Complete hydatidiform mole retaining a chromosome 11 of maternal origin: molecular genetic analysis of a case. Mod. Pathol.17(9), 1155–1160 (2004).
  • McConnell TG, Norris-Kirby A, Hagenkord JM, Ronnett BM, Murphy KM. Complete hydatidiform mole with retained maternal chromosomes 6 and 11. Am. J. Surg. Pathol.33(9), 1409–1415 (2009).
  • Baergen RN, Kelly T, McGinniss MJ, Jones OW, Benirschke K. Complete hydatidiform mole with a coexistent embryo. Hum. Pathol.27(7), 731–734 (1996).
  • Wax JR, Pinette MG, Chard R, Blackstone J, DO, Cartin A. Prenatal diagnosis by DNA polymorphism analysis of complete mole with coexisting twin. Am. J. Obstet. Gynecol.188(4), 1105–1106 (2003).
  • Makrydimas G, Sebire NJ, Thornton SE, Zagorianakou N, Lolis D, Fisher RA. Complete hydatidiform mole and normal live birth: a novel case of confined placental mosaicism: case report. Hum. Reprod.17(9), 2459–2463 (2002).
  • Sebire NJ, Foskett M, Paradinas FJ et al. Outcome of twin pregnancies with complete hydatidiform mole and healthy co-twin. Lancet359(9324), 2165–2166 (2002).
  • Hoffner L, Dunn J, Esposito N, Macpherson T, Surti U. P57KIP2 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.39(1), 63–72 (2008).
  • Gupta N, Mittal S, Misra R, Vimala N, Das AK. Placental site trophoblastic tumor originating in a tubal ectopic pregnancy. Eur. J. Obstet. Gynecol. Reprod. Biol.129(1), 92–94 (2006).
  • Su YN, Cheng WF, Chen CA et al. Pregnancy with primary tubal placental site trophoblastic tumor – a case report and literature review. Gynecol. Oncol.73(2), 322–325 (1999).
  • Kuo KT, Chen MJ, Lin MC. Epithelioid trophoblastic tumor of the broad ligament: a case report and review of the literature. Am. J. Surg. Pathol.28(3), 405–409 (2004).
  • El Hag IA, Ramesh K, Kollur SM, Salem M. Extrauterine placental site trophoblastic tumour in association with a lithopedion. Histopathology41(5), 446–449 (2002).
  • Xu ML, Yang B, Carcangiu ML, Hui P. Epithelioid trophoblastic tumor: comparative genomic hybridization and diagnostic DNA genotyping. Mod. Pathol.22(2), 232–238 (2009).
  • Zhao J, Xiang Y, Wan XR, Feng FZ, Cui QC, Yang XY. Molecular genetic analyses of choriocarcinoma. Placenta30(9), 816–820 (2009).

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