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Paper 2
Published in Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw, The Final FRCR, 2020
Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw
A 15 month old with abdominal distension has an abdominal ultrasound. This identifies a large right upper quadrant mass, inseparable from the liver. The lesion contains multiple anechoic, septated cysts. The septae demonstrate vascularity. The kidneys, pancreas and spleen have normal appearances. There is no free fluid. The aorta is normal calibre. Serum alpha-fetoprotein is normal.
The Reproductive System and Its Disorders
Published in Walter F. Stanaszek, Mary J. Stanaszek, Robert J. Holt, Steven Strauss, Understanding Medical Terms, 2020
Walter F. Stanaszek, Mary J. Stanaszek, Robert J. Holt, Steven Strauss
Prenatal diagnosis by amniocentesis involves percutaneous withdrawal of amniotic fluid. The amniocytes, cells in the fluid, are studied for their chromosomal makeup or for levels of specific enzymes. Screening for Down's syndrome is a primary indication for the procedure. Other methods of diagnosis include fetoseopy for direct observation of malformations and for fetal blood sampling. Ultrasonography permits visualization of some malformations using ultrasound radiation. The alpha-fetoprotein test is the fetal equivalent of serum albumin and is elevated in some congenital disorders.
The Liver and the Biliary System
Published in E. George Elias, CRC Handbook of Surgical Oncology, 2020
Liver function tests are very important as they express the status of the rest of the liver and indicate if the patient will be able to tolerate liver resection. In addition, some of the primary liver malignancies give elevated alpha-fetoprotein which can be used as a marker for the follow-up of these patients. Similarly, carcinoembryonic antigen (CEA) may be elevated in some metastatic tumors especially those that arose from the GI tract.
Pediatric Primary Yolk Sac Tumour of the Kidney: Recommendations for Pretreatment Diagnosis
Published in Fetal and Pediatric Pathology, 2023
Shilpi Thakur, Aanchal Kakkar, Manisha Jana, Prasenjit Das, Sandeep P. Agarwala, Venkateswaran K. Iyer
Germ cell tumors (GCTs) arise from differentiation of primordial germ cells. They most frequently occur in the gonads, but can arise at extra-gonadal sites, either in midline or non-midline locations. Extra-gonadal GCTs account for 1–2.5% of all GCTs, most commonly occur in the mediastinum and retroperitoneum, and have been reported at other unusual locations such as nasal sinuses, prostate, vagina and stomach [6]. Yolk sac tumor (YST) is a malignant GCT resembling extraembryonic structures including yolk sac, allantois, and extraembryonic mesenchyme [7, 8]. GCTs arising in unusual extragonadal locations are often unsuspected clinically, and due to their wide morphological spectrum, may resemble more common primary malignancies occurring in that organ. In core biopsies, all morphological features may not be evident, further enhancing the difficulty and resulting in erroneous diagnosis. We present an intrarenal YST initially misdiagnosed as Wilms tumor on core biopsy, which on resection was a YST, to emphasize that not all pediatric renal tumors are nephroblastoma. A pre-operative alpha-fetoprotein may have helped avoid this misdiagnosis.
Yolk sac tumours of the orbit and sinonasal tract
Published in Orbit, 2022
Mason Jenner Burns, Linda Zheng, Luciano Dalla-Pozza, Nicole S Graf, Joanna Walton, Krishna Tumuluri
Since 1975, immunohistochemical staining for alpha fetoprotein (AFP) has been the gold standard in diagnosis of YSTs and is positive in >75% of all YSTs, although staining may be weak or focal.27,28 More recently, Glypican-3 has become a more sensitive marker with strong positive staining in >95% of YSTs and is a more sensitive marker for YST but less specific than AFP. Cytokeratin is a non-specific marker of YSTs, which is present in close to all cases and in conjunction with glypican 3 and AFP can be used to support a diagnosis of YST.21,29,30 Measurement of alpha fetoprotein in the blood/serum is a highly sensitive (90%) but not specific tumour marker, which can aid in diagnosis of YST and monitoring treatment. Serum alpha fetoprotein acts as a prognostic marker with levels >1000 μg/L associated with worse prognosis.31
A retrospective cohort study on the effects of Down’s screening markers and maternal characteristics on pregnancy outcomes in preeclampsia
Published in Clinical and Experimental Hypertension, 2022
Bin Wu, Wenwen Ning, Yijie Chen, Caihe Wen, Huimin Zhang, Yiming Chen
Studies have shown that adverse pregnancy outcomes can be predicted by combinations of early and second trimester biochemical markers used in routine prenatal screening for Down’s syndrome (DS) (5). DS serum screening analytes may provide an alternative tool for risk assessment of adverse pregnancy outcomes (6). Early pregnancy markers of DS screening can be used as potential influencing factors of adverse pregnancy outcomes such as fetal loss, PE, intrauterine growth retardation, and premature delivery. Patients will be provided with counseling and screening for other adverse complications during pregnancy, such as PE, and management of potential adverse pregnancy outcomes (7). Among those with elevated maternal serum alpha fetoprotein (AFP), 26.1% of pregnancies were significantly associated with adverse pregnancy outcomes (8). Abnormal results of quadruplex screening for AFP, human chorionic gonadotropin (hCG), unbound estriol (uE3), and inhibin-A test could be associated with adverse pregnancy outcomes (APO) in women with normal appearing fetus (9). Although detection rates are low, the combination of maternal serum markers with obstetric history helps to identify a small proportion of women at risk for severe perinatal events and severe preeclampsia (10). The above literatures have confirmed the correlation between screening markers of middle pregnancy aneuploidy and adverse pregnancy outcomes such as PE.