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The Diagnosis of Choriocarcinoma in Molar Pregnancies: A Revised Approach in Clinical Testing.

ABSTRACT: BACKGROUND:Hydatidiform moles occur in approximately 1 in 1,500 pregnancies; however, early miscarriages or spontaneous abortions may not be correctly identified as molar pregnancies due to poor differentiation of chorionic villi. METHODS:The current clinical testing algorithm used for the detection of hydatidiform moles uses a combination of morphological analysis and p57 immunostaining followed by ploidy testing to establish a diagnosis of either a complete or partial molar pregnancy. We review here 198 referrals for fluorescence in situ hybridization (FISH) ploidy testing, where the initial diagnosis based on morphology is compared to the final diagnosis based on a combination of morphology, FISH and p57 immunohistochemical (IHC) staining. RESULTS:Approximately 40% of cases were determined to be genetically abnormal, but only 28.8% of cases were diagnosed as molar pregnancies. The underestimation of complete molar pregnancies and those with androgenetic inheritance was also found to be likely using conventional diagnostic methods, as atypical p57 staining was observed in approximately 10% of cases. CONCLUSIONS:Our findings suggest that a revised approach to testing products of conception is necessary, with cases screened according to their clinical history in order to distinguish molar pregnancy referrals from hydropic pregnancies.

SUBMITTER: Duffy L

PROVIDER: S-EPMC4625817 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature

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The Diagnosis of Choriocarcinoma in Molar Pregnancies: A Revised Approach in Clinical Testing.

Duffy Lisa L Zhang Liangtao L Sheath Karen K Love Donald R DR George Alice M AM

Journal of clinical medicine research 20151023 12

<h4>Background</h4>Hydatidiform moles occur in approximately 1 in 1,500 pregnancies; however, early miscarriages or spontaneous abortions may not be correctly identified as molar pregnancies due to poor differentiation of chorionic villi.<h4>Methods</h4>The current clinical testing algorithm used for the detection of hydatidiform moles uses a combination of morphological analysis and p57 immunostaining followed by ploidy testing to establish a diagnosis of either a complete or partial molar preg ...[more]

PMID: 26566410

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Project description:ObjectiveTo evaluate the application of non-invasive prenatal testing (NIPT) as an alternative to invasive diagnostic prenatal testing in pregnancies with abnormal ultrasound findings.MethodsThis was a retrospective analysis of 251 singleton and multiple pregnancies at high risk for fetal chromosomal abnormality based on findings at sonographic examination, in which NIPT was performed as a first-tier genetic test. NIPT was performed by massively parallel sequencing of cell-free DNA in maternal plasma, allowing genome-wide detection of whole-chromosome, as well as partial, autosomal aneuploidy. Sex chromosomes were not analyzed, according to the current protocol in Dutch laboratories.ResultsNIPT was performed at a median gestational age of 20 weeks, indicated by the presence of multiple congenital anomalies (n?=?13), isolated structural anomalies (n?=?57), increased nuchal translucency???3.5?mm (n?=?58), soft markers (n?=?73), growth restriction (n?=?40) and other anomalies (n?=?10). NIPT results were normal in 224 (89.2%) pregnancies, inconclusive in one (0.4%) and abnormal in 26 (10.4%). Most genetic aberrations detected by NIPT were common whole-chromosome aneuploidies: trisomy 21 (n?=?13), trisomy 18 (n?=?6) and trisomy 13 (n?=?3). Four further NIPT results were abnormal; one was suspected of being confined placental mosaicism and one was of maternal origin. In those with normal NIPT results, sonographic follow-up or examination of the newborn indicated the need for diagnostic genetic testing in 33/224 (14.7%) pregnancies. Clinically relevant genetic aberrations were revealed in 7/224 (3.1%) cases, two of which were whole-chromosome aneuploidies: trisomy 13 and monosomy X. As sex chromosomal aberrations are not included in NIPT analysis, the latter cannot be considered a false-negative result. Other discordant findings were subchromosomal aberrations (<?20 megabases, n?=?2) and monogenic aberrations (n?=?3).ConclusionsNIPT should not be recommended for genetic evaluation of the etiology of ultrasound anomalies, as both resolution and sensitivity, or negative predictive value, are inferior to those of conventional karyotyping and microarray analysis. Nonetheless, some pregnant women consider NIPT to be an acceptable alternative to invasive diagnostic testing. © 2016 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of the International Society of Ultrasound in Obstetrics and Gynecology.

Project description:BACKGROUND:Little data exists predicting the resistance to actinomycin D (Act-D) single-agent for gestational trophoblastic neoplasia (GTN). The objective was to determine the overall success of pulse Act-D and the factors predictive of resistance to pulse Act-D in the treatment of low-risk, non-choriocarcinoma post-molar GTN. METHODS:From January 2013 to October 2016, according to the FIGO criteria for the diagnosis of post-molar disease and the FIGO risk-factor scoring system for GTN, a total of 135 patients with post-molar non-choriocarcinoma GTN who were chemotherapy-naive with a FIGO score < 7 were treated with single-agent pulse Act-D as a first-line regimen, in Peking Union Medical College Hospital. The pulse Act-D regimen is defined as 1.25 mg/m2 (max 2 mg) IV push every other week. All patients were followed until May 2017. Epidemiological and clinical data were compared between patients with remission and resistance to Act-D to determine predictive factors by univariate and multivariate analysis. RESULTS:Ninety-six of 135 patients (71.1%) achieved complete remission after first-line chemotherapy of pulse Act-D. In multivariate analysis, existing invasive uterine lesions observed by pre-chemotherapy transvaginal ultrasound (odds ratio [OR] 7.5, 95% confidence intervals [CI] 2.7-20.8), FIGO score ≥ 5 (OR 15.2, 95% CI 1.5-156.1) and pre-chemotherapy levels of β-hCG ≥ 4000 IU/L (OR 3.1, 95% CI 1.2-8.3) were independent high-risk factors predicting resistance to pulse Act-D as single-agent chemotherapy. During follow-up, no relapse, treatment-associated serious adverse events, or death occurred. CONCLUSIONS:As first-line chemotherapy, pulse Act-D was effective and tolerable for patients with low-risk post-molar non-choriocarcinoma. Existing invasive uterine lesions observed by pre-chemotherapy transvaginal ultrasound, a FIGO score ≥ 5, and pre-chemotherapy levels of β-hCG ≥ 4000 IU/L were independent factors for resistance to pulse Act-D.

Project description:BackgroundGuidelines recommend universal mismatch repair (MMR) tumour testing of colorectal adenocarcinomas (CRCs) to screen for Lynch syndrome (LS). However, its implementation remains disjointed and referral for genetic testing dismal, particularly among minorities. We aimed to increase referral, cancer genetic testing and eventually LS diagnosis by developing the CLEAR LS (Closed Loop Enhanced Assessment and Referral for Lynch Syndrome) intervention, a systems approach which in the second phase was automated.MethodsThis is a cohort study of all patients diagnosed with CRC at an academic centre between 1 January 2012, when implementation of universal CRC testing began, and 31 January 2021. The original cohort spanned through 31 May 2015. Tumour testing included MMR immunohistochemistry, followed by BRAF V600E/MLH1 promoter methylation testing when indicated. The intervention included a manual phase (1 June 2015 through 31 July 2018), which systematised pathology screening and cancer genetics (CG) referral mechanisms, and an automated phase (1 August 2018 through 31 January 2021) using computer programming.ResultsA total of 249/1541 CRC (17.38%) had MMR loss of expression and 129 (8.37%) qualified for CG evaluation. Referral was 27.58% in the original cohort and 92.1% in the intervention (p<0.001). Patients seen by CG among referred were 27.58% in the original cohort and 74.3% in the intervention (p two-sided<0.001). The distribution of race/ethnicity among patients qualifying and referred for CG evaluation was not significantly different across cohorts. LS diagnosis increased from 0.56% (original cohort) to 1.43% (intervention). Cost per new diagnosis of LS decreased from US$173 675 to $87 960 from original cohort to intervention.ConclusionImplementation of systematic case identification and referral support mechanisms significantly increased the proportion of patients undergoing genetic testing and doubled the percentage of patients diagnosed with LS with no referral differences across racial/ethnic groups.

Dataset Information

The Diagnosis of Choriocarcinoma in Molar Pregnancies: A Revised Approach in Clinical Testing.

Publications

The Diagnosis of Choriocarcinoma in Molar Pregnancies: A Revised Approach in Clinical Testing.

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