Elevated Alpha-fetoprotein Levels Research Articles

Natural History of Indeterminate Liver Nodules in Patients With Advanced Liver Disease: A Multicenter Retrospective Cohort Study.

Indeterminate liver nodules (ILNs) are frequently encountered on diagnostic imaging after positive hepatocellular carcinoma (HCC) surveillance results, but their natural history remains unclear. We conducted a multicenter retrospective cohort study among patients with ≥1 newly detected LI-RADS 3 (LR-3) lesion ≥1 cm or LI-RADS 4 (LR-4) lesion of any size (per LI-RADS v2018) between January 2018 and December 2019. Patients were followed with repeat imaging at each site per institutional standard of care. Multivariable Fine-Gray models were used to evaluate associations between potential risk factors and patient-level time-to-HCC diagnosis, with death and liver transplantation as competing risks. Of 307 patients with ILNs, 208 had LR-3 lesions, 83 had LR-4 lesions, and 16 had both LR-3 and LR-4 lesions. HCC incidence rates for patients with LR-3 and LR-4 lesions were 110 (95% CI 70-150) and 420 (95% CI 310-560) per 1,000 person-year, respectively. In multivariable analysis, incident HCC among patients with LR-3 lesions was associated with older age, thrombocytopenia (platelet count ≤150 ×10 9 /L), and elevated serum alpha-fetoprotein levels. Among those with LR-4 lesions, incident HCC was associated with a maximum lesion diameter >1 cm. Although most patients had follow-up computed tomography or magnetic resonance imaging, 13.7% had no follow-up imaging and another 14.3% had follow-up ultrasound only. ILNs have a high but variable risk of HCC, with 4-fold higher risk in patients with LR-4 lesions than those with LR-3 lesions, highlighting a need for accurate risk stratification tools and close follow-up in this population.

Adult ovarian and sellar region mixed germ cell tumor: a case report and literature review

Mixed germ cell tumors (mGCTs) involving both the ovaries and sellar region have been rarely reported; thus, they pose significant challenges in clinical management. Our report of a case of a 26-year-old female with left ovarian mGCTs (dysgerminoma + yolk sac tumor) who presented with postoperative headaches and blurred vision contributes new information to the literature on treating mGCTs, which can lead to standardized regimens and sequencing guidelines. A physical examination revealed right temporal hemianopia, and elevated levels of alpha-fetoprotein were detected in serum and cerebrospinal fluid. Magnetic resonance imaging (MRI) of the sellar region revealed a space-occupying lesion. Pathological examination of the tumor after endoscopic transnasal resection confirmed the diagnosis of mGCTs (germinomas + yolk sac tumor). The patient received adjuvant chemotherapy and radiotherapy at reduced dosages. During follow-up, tumor markers remained within normal limits, and there was no evidence of tumor recurrence on sellar region MRI. This case highlights the rarity of the simultaneous occurrence of ovarian and sellar region mGCTs and emphasizes the importance of accurate diagnosis and multidisciplinary management.

An Investigative Analysis of Therapeutic Strategies in Hepatocellular Carcinoma: A Raetrospective Examination of 23 Biopsy-Confirmed Cases Emphasizing the Significance of Histopathological Insights

Background: The Liver Imaging Reporting and Data System (LI-RADS) combines standardized terminology with a classification system for imaging findings in patients with HCC, therefore rendering diagnostic biopsy unnecessary in many cases. This retrospective study included 23 patients with a biopsy diagnosis of HCC, performed either before or after local interventional procedures, in order to evaluate the histopathologic changes induced by previous procedures and their potential influence on the response to immune therapy. Material and Methods: The study encompassed a cohort of patients diagnosed with Hepatocellular Carcinoma (HCC). Diagnosis was established via contrast-enhanced computer tomography or magnetic resonance imaging that identified LI-RADS-5 nodules in conjunction with historical liver disease and elevated alpha-fetoprotein (AFP) levels or via histological examination confirming positivity for glypican3, heat shock protein 70, and glutamine synthetase. The study detailed the liver disease etiology, LI-RADS scores, characteristics and dimensions of HCC nodules, serum AFP concentrations, Edmondson–Steiner grading, and the expression of programmed cell death ligand 1 (PD-L1) in the tumor cells. Results: Among the study’s cohort of Hepatocellular Carcinoma (HCC) patients, a portion had not received any prior treatments, while the remainder experienced local HCC recurrence following trans-arterial chemoembolization or radiofrequency ablation. Observations indicated elevated alpha-fetoprotein (AFP) levels in those who had not undergone any previous interventions, showing statistical significance. The Edmondson–Steiner classification predominantly identified grade III differentiation across patients, irrespective of their treatment history. Furthermore, an increase in intra-tumoral programmed cell death ligand 1 (PD-L1) expression was noted in patients who had not been subjected to previous therapies. Conclusion: Liver biopsy offers valuable insights for patients with Hepatocellular Carcinoma (HCC), assisting in the tailoring of immune therapy strategies, particularly in cases of recurrence following prior local interventions.

An unusual cause of significantly elevated blood alpha-fetoprotein levels: a case report and literature review

Alpha-fetoprotein (AFP) serves as a crucial diagnostic marker for primary hepatocellular carcinoma (HCC) and germ cell tumors (GCTs), with rare instances of significantly elevated levels in other diseases. In this study, we present a case of an elderly patient who was diagnosed with AFP-producing gastric cancer (AFPGC) following an elevated AFP result during physical examination. In investigating liver cancer at an early stage, the diagnosis was missed because of failure in detecting the lesion, resulting in delayed treatment initiation. AFPGC is a rare aggressive tumor that demands heightened awareness among clinicians to foster early detection, diagnosis, and treatment for improved prognosis.

Sertoli-Leydig Cell Tumour in a Patient with Ambiguous Genitalia and Congenital Adrenal Hyperplasia

Background: Hyperandrogenism, characterized by elevated levels of male hormones such as testosterone, presents various clinical manifestations including secondary amenorrhea, hirsutism, and clitoromegaly. While often associated with polycystic ovarian syndrome, other differentials such as Sertoli-Leydig cell tumors and Congenital Adrenal Hyperplasia (CAH) are critical to consider. These conditions can manifest at different life stages and are seldom seen together. Objective: This case study aims to explore the rare co-presentation of CAH and a Sertoli-Leydig cell tumor in a patient presenting with secondary amenorrhea and ambiguous genitalia, and to discuss the diagnostic challenges and management strategies involved. Methods: A 16-year-old female presented with irregular menstrual cycles and secondary amenorrhea, alongside symptoms of hyperandrogenism such as voice deepening and hirsutism. Diagnostic procedures included physical examinations, ultrasound imaging, and hormone level assessments. A detailed ultrasound revealed a large right-sided ovarian mass, and biopsies confirmed a Sertoli-Leydig cell tumor. Surgical intervention involved the excision of the mass, with subsequent histopathological examination. The patient underwent three cycles of chemotherapy and was scheduled for reconstructive surgery. Results: Ultrasound dimensions of the ovarian mass were 7.2 x 13.4 x 16 cm, with the post-surgical tumor measuring 18 x 17 cm. Laboratory findings included testosterone levels above 200 ng/ml, and elevated alpha-fetoprotein levels. The histopathological report confirmed a poorly differentiated Sertoli-Leydig cell tumor (FIGO stage 1a). Post-treatment follow-up showed a marked reduction in androgen levels and stabilization of the patient's menstrual cycle. Conclusion: The coexistence of CAH and a Sertoli-Leydig cell tumor presents unique diagnostic and therapeutic challenges. This case emphasizes the importance of a thorough evaluation and a multidisciplinary approach in the management of complex hyperandrogenic states to achieve optimal clinical outcomes.

CEUS in prediction of early recurrence of hepatocellular carcinoma after curative resection and to stratify the risk of early recurrence: a retrospective observational study.

Early recurrence (ER) after surgery is related to early death in patients with hepatocellular carcinoma (HCC) after radical resection. To explore the role of preoperative contrast-enhanced ultrasound (CEUS) in predicting ER of HCC after curative resection and to stratify the risk of ER. This study evaluated consecutive 556 patients with HCC who were examined by CEUS during the 2weeks before curative resection between January 2011 and December 2018. ER was defined as intrahepatic and/or extrahepatic recurrence within 2year after resection of HCC. Univariate and logistic regression analyses were performed to identify independent risk factors for ER after surgical resection of HCC. Recurrence-free time (RFS) rates were analyzed and compared by log-rank test. ER occurred in 307 (55.2%) of the 556 patients. Univariate and multivariate analyses revealed that a tumor size ≥ 30mm and satellite nodules seen on CEUS, DL(deep learning) radiomics reoccurrence score based on the frame of image with the maximum intensity of CEUS and an elevated alpha-fetoprotein level were significantly associated with ER (P < .05). Based on the number of predictors present, patients with CEUS LR-5 HCC were stratified into three risk subgroups: risk group 3 (high-risk patients, 4 predictors), risk group 2 (medium-risk patients, 2-3 predictors), and risk group 1 (low-risk patients, 0-1 predictor). The 2-year RFS rate was 19.4% in risk group 3, 40.9% in risk group 2, and 48.1% in risk group 1; the corresponding mean RFS times were 14.0 ± 2.9months, 43.7 ± 6.6months, and 55.5 ± 2.8months, respectively (P < .001). Tumor size ≥ 30mm and satellite nodules seen on CEUS, DL radiomics reoccurrence score based on the frame of image with the maximum intensity of CEUS and an elevated alpha-fetoprotein level can predict ER of HCC.

Surgical Intervention After Lenvatinib Treatment in Patients With Advanced Hepatocellular Carcinoma.

The survival and prognostic factors in patients with advanced hepatocellular carcinoma (HCC) who underwent surgical intervention after lenvatinib treatment is not well-understood. Seventy-six patients with advanced HCC who had lenvatinib treatment were retrospectively analyzed. Of 70 patients who were treated with lenvatinib, 14 patients underwent surgical intervention after lenvatinib treatment for 4-28 weeks. Progression-free survival (PFS) was significantly longer in patients who underwent surgical intervention than in patients with non-surgical treatment (median, 8.6 vs. 5.1 months, p=0.019). Non-significantly longer overall survival (OS) was also observed in patients with surgical intervention compared to patients with non-surgical treatment (median, unreached vs. 21.0 months, p=0.206). In patients who underwent surgical intervention, two patients had a partial response, and 12 had stable disease according to RECIST ver. 1.1 criteria. The serum alpha-fetoprotein (AFP) level was significantly lower after lenvatinib treatment than before lenvatinib treatment (median, 19.2 vs. 196.5 ng/ml, p=0.0081). Eleven patients underwent curative surgery with a 14% major postoperative complication (Clavien-Dindo ≥IIIa) rate. Patients who exhibited decreases in AFP levels or maintained AFP levels within the normal range during lenvatinib treatment had significantly longer PFS (median, 8.6 vs. 3.0 months, p=0.0009) and OS (median, unreached vs. 12.4 months, p=0.012) compared to those with persistently elevated AFP levels beyond the normal range. Surgical intervention after lenvatinib treatment for advanced HCC was associated with longer PFS. Patients exhibiting decreased AFP levels or maintaining AFP levels within the normal limit may be suitable candidates for surgical intervention after lenvatinib treatment for advanced HCC.

Detecting microvascular invasion in hepatocellular carcinoma using the impeded diffusion fraction technique to sense macromolecular coordinated water.

Impeded diffusion fraction (IDF) is a novel and promising diffusion-weighted imaging (DWI) technique that allows for the detection of various diffusion compartments, including macromolecular coordinated water, free diffusion, perfusion, and cellular free water. This study aims to investigate the clinical potential of IDF-DWI in detecting microvascular invasion (MVI) in hepatocellular carcinoma (HCC). 66 patients were prospectively included. Metrics derived from IDF-DWI and the apparent diffusion coefficient (ADC) were calculated. Multivariate logistic regression was employed to identify clinical risk factors. Diagnostic performance was evaluated using the area under the receiver operating characteristics curve (AUC-ROC), the area under the precision-recall curve (AUC-PR), and the calibration error (cal-error). Additionally, a power analysis was conducted to determine the required sample size. The results suggested a significantly higher fraction of impeded diffusion (FID) originating from IDF-DWI in MVI-positive HCCs (p < 0.001). Moreover, the ADC was found to be significantly lower in MVI-positive HCCs (p = 0.019). Independent risk factors of MVI included larger tumor size and elevated alpha-fetoprotein (AFP) levels. The nomogram model incorporating ADC, FID, tumor size, and AFP level yielded the highest diagnostic accuracy for MVI (AUC-PR = 0.804, AUC-ROC = 0.783, cal-error = 0.044), followed by FID (AUC-PR = 0.693, AUC-ROC = 0.760, cal-error = 0.060) and ADC (AUC-PR = 0.570, AUC-ROC = 0.651, cal-error = 0.164). IDF-DWI shows great potential in noninvasively, accurately, and preoperatively detecting MVI in HCC and may offer clinical benefits for prognostic prediction and determination of treatment strategy.

Enteroblastic cholangiocarcinoma: An uncommon, underrecognized subtype of bile duct cancer

Enteroblastic carcinoma is clinically characterized by an elevated serum level of alpha-fetoprotein (AFP) and is histologically characterized by cancer cells with a clear cytoplasm and ‘blastic’ coarse chromatin. It sometimes has an element of hepatoid carcinoma; therefore, these two neoplasms are often regarded as sister entities. Although hepatoid carcinoma in the biliary tree has been reported, enteroblastic cholangiocarcinoma is extremely uncommon. In the present study, four cases of enteroblastic cholangiocarcinoma were examined. Tumors were located inside the liver (n = 2) or common bile duct (n = 2). The two intrahepatic cases had a history of primary sclerosing cholangitis, and serum AFP levels were elevated in both. One unresectable case was diagnosed by needle liver biopsy, while the remaining three underwent surgical resection. Histologically, all cases showed similar microscopic features. Cuboidal or polygonal cancer cells with the characteristic clear cytoplasm and subnuclear vacuoles were arranged in a papillary, micropapillary, tubular, or solid architecture. One case had an element of pancreatobiliary-type adenocarcinoma, while a hepatoid carcinoma element was not observed in any cases. All cases were positive for AFP, glypican 3, and SALL4, with SALL4 being the most widely expressed. Heppar-1 and arginase-1 were negative, except for one case, which was positive for Heppar-1. In conclusion, enteroblastic cholangiocarcinoma is an uncommon subtype of biliary tract malignancy. These cases may have been categorized as ‘clear cell’ cholangiocarcinoma. Although enteroblastic cholangiocarcinoma seems to occur more commonly in extrahepatic regions, including the gallbladder, it may also develop in the liver, particularly in patients with primary sclerosing cholangitis.

Agrin as a prognostic biomarker in hepatocellular carcinoma.

559 Background: Hepatocellular carcinoma (HCC), the predominant form of hepatic cancer is associated with high mortality rates, both in the United States &amp; globally. Alpha-fetoprotein (AFP) &amp; Glypican-3 have been proposed as biomarkers for HCC, although they do not offer any prognostic benefit to model disease progression. Immunotherapy combinations increase patient survival to ~18 months but are not selected based on biomarkers. Agrin, a secreted proteoglycan is frequently overexpressed &amp; secreted in HCC &amp; plays a prominent role in liver tumor microenvironment to promote hepatocarcinogenesis. In this single center, retrospective study using banked materials, we assessed the role of agrin as a prognostic biomarker in HCC. Methods: With IRB approval, we studied 90 newly diagnosed unresectable hepatobiliary cancer patients, &amp; compared them to healthy controls matched for age, gender, &amp; BMI between February 2006 &amp; September 2013. Serum concentration (conc.) of agrin was assessed using enzyme-linked immunosorbent assay (ELISA). We correlated the level of agrin with AFP, a known biomarker in hepatocellular cancer. Comparisons between groups were made using Mann-Whitney U &amp; Kruskal Wallis tests. Survival analysis used both univariate &amp; multivariate Cox regression models to investigate the relationship between survival outcomes &amp; agrin concentration, in comparison to AFP. Results: Mean circulatory plasma agrin levels were higher in HCC patients (n=79) (7.97 ng/ml, SD 5.8) when compared to controls (4.27 ng/ml, SD 1.03). ECOG PS &gt; 2 was linked to higher agrin conc. (mean: 10.5 ng/ml, p 0.007). While agrin levels in healthy individuals did not change with smoking history, the mean agrin levels were significantly higher in smokers (9.49 ng/ml) vs non-smokers (6.84 ng/ml) (p 0.0001) amongst HCC patients. Agrin displayed a strong positive correlation with AFP (correlation coefficient (r) 0.31944, p 0.0137). Multivariate cox regression models indicated that agrin conc. of &gt; 9.3 ng/ml had greater predictable survival outcomes (Hazard ratio (HR) 8.51, p &lt;0.001) when compared to elevated AFP levels (HR 1.55, p 0.25) (Table). HCC patients with lower agrin conc. (4.9 to 6.3 ng/ml) exhibited a one-year survival rate of 63% &amp; a median survival time of 16 months, while those with higher agrin conc. exceeding 9.3 ng/ml had significantly lower one-year survival rate of 14% &amp; significantly shorter median survival time of 3 months (p 0.002). Conclusions: Our results suggest that agrin levels as a prognostic indicator fare better than AFP levels. Thus, further studies should be done to explore this as a therapeutic target and as a biomarker of response to targeted therapies. [Table: see text]

Fetal and Placental Causes of Elevated Serum Alpha-Fetoprotein Levels in Pregnant Women.

The most common association related to alpha-fetoprotein (AFP) is fetal neural tube defect (NTD), and indeed, this is where the international career of this protein began. In times when ultrasonography was not yet technically advanced, the detection of high levels of AFP in maternal serum (MS-AFP) and amniotic fluid was the basis for suspecting neural tube defects. In cases where there was no confirmation of NTD, other causes were sought. It has been established that high titers of MS-AFP could originate in other defects or diseases, such as (1) increased proteinuria in severe fetal kidney diseases; (2) pathological overproduction in liver diseases; (3) penetration through the membranes of gastrointestinal organs exposed to amniotic fluid; (4) passage through the walls of skin vessels; and as a side effect of (5) hepatic hematopoiesis and increased transfer through the edematous placenta in fetal anemia. This article provides a review of the current literature on congenital defects and genetic diseases in the fetus where an elevated level of MS-AFP may serve as the initial diagnostic clue for their detection.

Eco-friendly synthesis and assessment of chrysin – primed zinc ferrite nanoparticles against vinyl chloride and 2-acetylaminofluorene model of hepatorenal injury in rats

Co-exposure to environmental toxicants is becoming an emerging problem globally. This study investigated the potential of chrysin-primed zinc-ferrite nanoparticles (ZnFe2O4@Chrysin) to counteract oxidative stress and inflammation in vinyl chloride (VC) and 2-acetylaminofluorene (2-AAF) induced liver and kidney toxicities in male Wistar rats. ZnFe2O4@Chrysin was identified using x-ray diffraction, thermogravimetric analysis, Fourier Transform Infrared spectroscopy, scanning and transmission electron micrographs. Molecular orbital distributions in chrysin were determined using Density Functional Theorem analyses. Forty –two rats were placed in six groups of seven animals each, and orally administered with ZnFe2O4@Chrysin (10, 20, 50 mg/kg), VC (50 mg/kg) and 2-AAF (30 mg/kg) over a period of 28 days. Liver and kidney function, lipid profile, oxidative stress, inflammation, endocrine and cancer parameters were evaluated. Treatment with ZnFe2O4@Chrysin ameliorated the VC + 2-AAF induced elevations in alanine aminotransferase, aspartate aminotransferase, alkaline phosphatase, triglyceride, urea, uric acid, and sodium and potassium levels. VC + 2-AAF also caused significant elevations in superoxide dismutase, malondialdehyde, nitric oxide, myeloperoxidase levels which were restored by ZnFe2O4@Chrysin. Elevated levels of alpha fetoprotein, C-reactive protein (CRP) and thyroid stimulating hormone in VC + 2-AAF treated rats were significantly reversed by ZnFe2O4@Chrysin. ZnFe2O4@Chrysin also restored the histoarchitecture of the kidney and liver of rats exposed to VC + 2-AAF. This study suggests that ZnFe2O4@Chrysin offered protection against VC and 2-AAF induced alterations in biochemical indices of rats via anti-inflammatory and antioxidant mechanisms.

A Prompt Diagnosis and Treatment of a Case of Nuclear Protein of the Testis Carcinoma Characterized by a Bronchial Lesion and High Serum Alpha-fetoprotein Level Following Genomic Testing.

Nuclear protein of the testis carcinoma (NUTC) is a rare and aggressive malignancy. We herein report a case of NUTC in the lung characterized by a bronchial lesion and elevated alpha-fetoprotein levels. A 35-year-old Japanese man presented to our institution with suspected advanced lung cancer based on a histological examination. Subsequently, next-generation sequencing (NGS) yielded a positive BRD4-NUTM1 fusion. In addition, positive NUT immunostaining of the lung biopsy specimen confirmed NUTC in the lungs. Systemic chemotherapy and radiotherapy showed a temporary response, with decreased serum alpha-fetoprotein levels. We highlight this case of a prompt diagnosis by NGS of NUTC in a young individual with a rapidly progressing tumor.

Rudimentary and Incipient-Yolk Sac Tumour- Testis

Yolk sac tumour of testis configures as a germ cell neoplasm comprised of cellular articulations or structures simulating embryonic or foetal yolk sac, allantois and extra-embryonal mesenchyme. Testicular yolk sac tumour is pre-eminently comprised of prepubertal subtype which is non-concordant to germ cell neoplasia in situ, emerges as a ‘pure’ neoplasm and demonstrates multiple gains within chromosome 1q, 20q or 22 and losses within chromosomes 1p, 4 or 6q. Postpubertal subtype is concurrent to germ cell neoplasia in situ (GCNIS), preponderantly configures as a component of ‘mixed tumour’ and occurs due to testicular dysgenesis syndrome, subfertility or as single nucleotide polymorphism (SNP) variants within KITLG, SPRY4 or DMRT1 genes and expounds gain of isochromosome 12p. Upon microscopy, neoplasm may configure distinctive configurations as microcystic or reticular pattern, macrocystic pattern, myxomatous pattern, sarcomatoid or spindle shaped cellular pattern, solid pattern, glandular or alveolar pattern, endodermal sinus or perivascular pattern, hepatoid pattern, papillary pattern, parietal pattern or poly-vesicular vitelline pattern. Yolk sac tumour appears immune reactive to alpha fetoprotein (AFP), glypican 3, SALL4, pancytokeratin, villin or CK7. Neoplastic cells appear immune non-reactive to OCT3/4, CD30, CD117, placental alkaline phosphatase (PLAP), podoplanin (D2-40), inhibin, GATA3 or p63. Testicular yolk sac tumour requires segregation from neoplasms as teratoma, seminoma, embryonal carcinoma, rete testis with hyaline globules and microcystic leydig cell tumour. Tumefaction preponderantly depicts elevated levels of serum alpha fetoprotein (AFP). Testicular yolk sac tumour may be optimally subjected to surgical manoeuvers as orchiectomy.

Review on the clinical roles and limitations of AFP as marker for HCC and other diseases

The tumor marker for hepatocellular carcinoma, alpha-fetoprotein (AFP), has been utilized in association with ultrasound and other imaging methods (HCC). Its utility is constrained by low sensitivity and specificity, as well as differences between the various measurement methods. Also, depending on the patient's characteristics and the used AFP cut-off values, its accuracy fluctuates. Des-gamma-carboxyprothrombin, a new biomarker, was combined with AFP to significantly increase its ability to identify HCC. Elevated AFP levels are usually seen in patients with acute and chronic liver diseases, as well as cirrhosis, and could indicate the severity of hepatic damage and subsequent regeneration. AFP increases can also result from hereditary conditions and other non-hepatic diseases.ase can also result from hereditary conditions and other non-hepatic diseases.

HEPATOCELLULAR CARCINOMA IN OCCULT HEPATITIS B VIRUS INFECTION: A CASE REPORT

Occult hepatitis B virus infection is defined as the presence of hepatitis B virus DNA in the hepatocytes or serum of individuals who had tested negative for serum HBV surface antigen. Controversies remain as to the role of the occult HBV infection in the development of hepatocellular carcinoma (HCC) in immunocompetent individuals. It has been shown that the persistence of very low viral replicative activity during occult hepatitis B virus infection may induce mild liver necro-inflammation continuing for life, and substantial clinical evidence indicates that occult hepatitis B virus infection can accelerate the progression of liver disease towards cirrhosis that is considered the most important risk factor for hepatocellular carcinoma development. The aim of this case is to describe the clinical symptoms and laboratory data of the first case we encountered of HCC occurring in an OBI patient. A 52-year-old man came to the Infectious Diseases Unit because of right upper quadrant pain. Blood test showed negative for HBsAg, positivity for both anti-HBs and anti-HBc total, the quantitative assay of HBV DNA based on TaqMan technology was 2012 copies/mL, elevated serum alpha-fetoprotein level, the findings in abdominal ultrasonography and computed tomography showed a tumor in the right liver lobe with 12cm in size. The patient was transferred to the Military Hospital 175 Ho Chi Minh City for diagnosis of intermediate stage HCC, treated with transarterial chemoembolization (TACE) and antiviral treatment with tenofovir disoproxil fumarate (TDF).

Gastric adenosquamous carcinoma with an elevated serum level of alpha-fetoprotein: A case report

Postcholecystectomy bile duct injury (BDI) remains a devastating iatrogenic complication that adversely impacts the quality of life with high healthcare costs. Despite a decrease in the incidence of laparoscopic cholecystectomy-related BDI, the absolute number remains high as cholecystectomy is a commonly performed surgical procedure. Open Roux-en-Y hepaticojejunostomy with meticulous surgical technique remains the gold standard surgical procedure with excellent long-term results in most patients. As with many hepatobiliary disorders, a minimally invasive approach has been recently explored to minimize access-related complications and improve postoperative recovery. Since patients with gallstone disease are often admitted for a minimally invasive cholecystectomy, laparoscopic and robotic approaches for repairing postcholecystectomy biliary stricture are attractive. While recent series have shown the feasibility and safety of minimally invasive post-cholecystectomy biliary stricture management, most are retrospective analyses with small sample sizes. Also, long-term follow-up is available only in a limited number of studies. The principles and technique of minimally invasive repair resemble open repair except for the extent of adhesiolysis and the suturing technique with continuous sutures commonly used in minimally invasive approaches. The robotic approach overcomes key limitations of laparoscopic surgery and has the potential to become the preferred minimally invasive approach for the repair of postcholecystectomy biliary stricture. Despite increasing use, lack of prospective studies and selection bias with available evidence precludes definitive conclusions regarding minimally invasive surgery for managing postcholecystectomy biliary stricture. High-volume prospective studies are required to confirm the initial promising outcomes with minimally invasive surgery.

ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein.

ARV1 mutation is known to present as developmental and epileptic encephalopathy (DEE)-38. However, the phenotypic spectrum has been expanding ever since it was reported in 2016. Along with seizures and developmental delay, other unique clinical features include ophthalmological abnormalities and movement disorders in the form of ataxia and dystonia, especially in those with missense mutation. These manifestations closely mimic ataxia telangiectasia. Elevation of alpha-fetoprotein levels is an important investigative marker in the diagnosis of ataxia telangiectasia and ataxia with oculomotor apraxia syndromes. ARV1 can also be associated with increased alpha-fetoprotein. There are no reports evaluating alpha-fetoprotein levels in cases with ARV1 mutation, which is significant in the context of ocular abnormalities with ataxia. We report a case of ARV1 mutation presenting with ataxia, ocular abnormalities, and elevated alpha-fetoprotein levels, thus mimicking autosomal recessive cerebellar ataxias. This study provides a comprehensive literature review of the cases reported so far, thus expanding the understanding of the spectrum of presentation, and helps in correlating the clinical picture with the underlying causative genetic mutation. ARV1 gene is another example of one gene with phenotypic pleiotropy. Though presentation with DEE is common, a few, especially those with missense mutations, can present with ataxia and ocular abnormalities. All cases presenting with ataxia who have increased alpha-fetoprotein levels and seizures should be tested for the ARV1 gene, when testing for ataxia genes is negative. The underlying genetic mechanism can explain the varying clinical manifestations of the ARV1 gene.

A case of alpha-fetoprotein-positive thymic small cell carcinoma: a case report

BackgroundAn alpha-fetoprotein (AFP)-positive neuroendocrine tumor of the thymus is a rare thoracic malignancy. Few cases of AFP-positive thymic large cell neuroendocrine carcinoma have been reported, with no known previous report of an AFP-positive thymic small cell carcinoma. We encountered a patient with an AFP-positive small cell carcinoma and report here the clinical course.Case presentationA 40-year-old man was transferred to our hospital for a large anterior mediastinal tumor and showed an elevated serum AFP level. Computed tomography-guided biopsy results led to diagnosis of small cell carcinoma. Induction chemoradiotherapy was performed before surgery because of pulmonary artery invasion. The response to Induction chemoradiotherapy varied among sites, with the main tumor showing shrinkage and the metastasis site growth. This discrepancy suggested a histologic type unresponsive to or cancer cells potentially resistant to chemotherapy, thus a surgical re-biopsy was performed and histological findings revealed AFP-positive small cell carcinoma. Additional chemotherapy was performed, though could not control cancer progression, and the patient died 8 months after the first medical examination.ConclusionsOur present clinical experience indicates the importance of histological examination for determining AFP-positive anterior mediastinal tumor treatment. Although AFP-positive neuroendocrine tumor of the thymus is relatively rarer than germ cell carcinoma, differential diagnosis with use of a histological examination should be considered because of the potentially poorer prognosis. The present clinical findings for an AFP-positive neuroendocrine tumor of the thymus case are considered useful for establishing an optimal treatment strategy in the future.

Role of Alpha-Fetoprotein (AFP) in Diagnosing Childhood Cancers and Genetic-Related Chronic Diseases.

Alpha-fetoprotein (AFP) is a protein commonly found during fetal development, but its role extends beyond birth. Throughout the first year of life, AFP levels can remain high, which can potentially mask various conditions from the neurological, metabolic, hematological, endocrine, and early childhood cancer groups. Although AFP reference values and clinical utility have been established in adults, evaluating AFP levels in children during the diagnostic process, treatment, and post-treatment surveillance is still associated with numerous diagnostic pitfalls. These challenges arise from the presence of physiologically elevated AFP levels, inconsistent data obtained from different laboratory tests, and the limited population of children with oncologic diseases that have been studied. To address these issues, it is essential to establish updated reference ranges for AFP in this specific age group. A population-based study involving a statistically representative group of patients could serve as a valuable solution for this purpose.