A Case of Congenital Hepatoblastoma Coexisting with Pulmonary Hypertension.

Hepatoblastoma (HBL) is the most frequently detected malignant tumor of the liver in childhood. HBLs detected antenatally or up to 3 months after birth are considered congenital HBLs. We report a five-day-old female infant in whom a hepatic mass was detected at 20 weeks' gestation. At birth (36 weeks), the hepatic mass measured 12x6 cm, and she had respiratory distress. Pulmonary hypertension (PHT) was detected on echocardiographic evaluation. Despite dual medical therapy, her PHT did not improve. Histologically, the biopsy demonstrated a mixed epithelial-mesenchymal HBL with predominance of fetal morphology in the epithelial component. Chemotherapy was initiated on postnatal day 15; however, the baby died of respiratory failure on postnatal day 23. Conclusion: HBL is an embryonal tumor which can develop early in the intrauterine period. Although the mechanism is not known, it may cause PHT which would affect the prognosis negatively.

Congenital liver hemangioma revealed by cholestasis syndrome: report of a rare case.

Our paper reports a case of hepatic angioma revealed by neonatal cholestasis, thing that has never been reported in the literature to our knowledge. A newborn boy of 25 days of life had cholestatic jaundice since his fifth day of life. During its health assessment, the angioscan detected the presence of multiple hepatic agiomas. The rest of the etiological report returned without any anomaly. Beta-blockers were started with a very good clinical and ultrasonographic evolution after 12 months of treatment.

Computed tomography imaging and clinical features of congenital hepatoblastoma: A retrospective analysis.

Congenital hepatoblastoma (CHB) is the most common hepatic malignant tumor of fetus or neonates, but few studies focusing on the radiological characteristics of CHB have been reported to date.To investigate the characteristic clinical and computed tomography (CT) findings of CHB to facilitate recognition and noninvasive diagnosis.Medical records of 7 patients with CHB were retrospectively reviewed. The demographic, clinical, and laboratory data were extracted from the electronic medical records. Two pediatric radiologists evaluated the abdominal CT examinations for the hepatic tumor location, size, enhancement characteristics, vascular invasion, and intra-/extra-hepatic metastasis.Among the included 7 patients (3 males and 4 females), only 1 had an elevated serum alpha-fetoprotein level. All patients had solitary intrahepatic mass with a mean size of 4.7 cm (range: 2.9-10.2 cm), of which liver SV-VII were most involved. 4/7 tumors were round while 3/7 irregular or lobulated. 6/7 tumors were well-defined. Microhemorrhage, cystic necrosis, and coarse calcification were present in 5/7, 4/7, and 1/7 tumors, respectively. All lesions showed inhomogeneously significant enhancement, with multiple nodular or striped appearance in the center and periphery of the tumors on the arterial phase, and then the enhancement area showed progressive expansion and fusion filling over time but the attenuation gradually declined on the portal and delayed phases, and finally the majority (6/7) of tumors presented multiple band- or island-like characteristics with prominently peripheral enhancement on the delayed phase while the remaining 1 relatively small tumor showed nearly complete but inhomogenous enhancement. In addition, only 1/7 tumor had hilar hepatic bile duct and portal vein invasion and secondary intra-hepatic bile duct dilation. No metastatic lesions were identified in all patients at diagnosis. The abdominal aorta distal to the coeliac trunk was significantly narrowed in 3/7 patients. Pathological examinations suggested that 6/7 tumors showed fetal histology with only 1 containing mesenchymal elements.The relationship between serum alpha-fetoprotein and CHB could be more complicated and yet to be determined. Dynamic contrast-enhanced CT can facilitate recognition and noninvasive diagnosis of CHB, presenting a pattern of progressive expansion and fusion filling but inhomogeneously significant enhancement.

Congenital hepatic hemangiomas: Clinical, histologic, and genetic correlation.

BACKGROUND: The guide for monitoring and treatment of congenital hepatic hemangiomas (CHH) will depend on the subtype and the postnatal clinical behavior. Our aim is to present a series of CHH and characterize its clinical, histologic and genetic correlation, compared to cutaneous congenital hemangiomas (CCH). MATERIAL AND METHODS: A retrospective review of CHH patients diagnosed between 1991 and 2018 was performed. Clinical, morphological and histological data were analyzed and deep high-throughput sequencing was performed. MAIN RESULTS: Sixteen patients with CHH were included. Five patients were followed up with serial ultrasounds while pharmacological treatment (corticosteroids and propranolol) was decided in five. Surgical resection was performed in five owing to hemorrhage and suspicion of malignancy, and the last patient underwent embolization. Histologic analysis was available in 7 patients and confirmed CHH, showing two different histological patterns that could be associated with the presence of somatic pathogenic variants in GNAQ and/or PIK3CA detected in the genetic testing. Review of 7 samples of CCH revealed some histologic differences compared to CHH. CONCLUSION: CHH resemble its cutaneous homonym with similar clinical behavior. Histologic analysis can differentiate two subgroups while genetic testing can confirm mutations in GNAQ and in PIK3CA in a subset of CHH. TYPE OF STUDY: Treatment study. LEVEL OF EVIDENCE: IV.

Contrast-Enhanced Ultrasound of Congenital and Infantile Hemangiomas: Preliminary Results From a Case Series.

OBJECTIVE. The contrast-enhanced ultrasound (CEUS) imaging features of hepatic vascular tumors in infants, including infantile hemangioma (IH) and congenital hemangioma (CH), are not well reported. Frequent inaccurate use of lesion terminology in the literature has created diagnostic confusion. The purpose of this study is to describe the CEUS features of IH and CH. MATERIALS AND METHODS. Ten patients, ranging in age from 8 days to 16 months, with hepatic vascular tumors were included for retrospective analysis. Gray-scale ultrasound, color Doppler ultrasound, and CEUS features were reviewed, and interobserver kappa coefficients were calculated. Final diagnoses were clinically determined by a pediatrician with expertise in vascular anomalies except in one patient who underwent surgical excision. RESULTS. Of the 10 patients, five had CHs and five had IHs. All 10 lesions were hyperenhancing in the early arterial phase. In the portal venous phase, four of five (80%) CHs showed hyperenhancement relative to normal liver parenchyma, whereas four of five (80%) IHs showed isoenhancement. In the late phase, washout of contrast material was seen in three of five (60%) IHs, whereas one IH remained isoenhancing and one IH was hyperenhancing. None of the CHs showed late washout. Interobserver kappa coefficients for CEUS features ranged from 0.60 to 1.00. CONCLUSION. Except for the CEUS feature portal venous phase enhancement (κ = 0.60), good to excellent (κ = 0.74-1.00) agreement about CEUS features of IHs and CHs was observed. A significant proportion of IHs (60%) showed washout at delayed phase imaging, which has also been reported with malignancies. Recognition of the overlap in imaging appearance of these two entities is vital to preventing misdiagnosis of malignancy.

Congenital Hepatoblastoma and Beckwith-Wiedemann Syndrome.

Following the discovery of a fetal hepatic tumor, labor was induced at 38 weeks, and a phenotypically normal female was delivered vaginally. A serum alpha-fetoprotein level at birth was 373,170 ng/mL. Postnatal magnetic resonance imaging confirmed a mass in the right lobe of the liver, and a percutaneous core biopsy revealed an epithelial type hepatoblastoma with predominantly embryonal histology. Methylation testing revealed hypomethylation at imprinting center 2, consistent with a diagnosis of Beckwith-Wiedemann syndrome. This case suggests that Beckwith-Wiedemann syndrome testing should be considered in all patients with hepatoblastoma, even in the absence of other phenotypic stigmata.

Metastatic Choriocarcinoma Masquerading as a Congenital Glabellar Hemangioma.

Infantile choriocarcinoma (ICC) is a rare, highly malignant form of gestational trophoblastic neoplasia. Rapid diagnosis and initiation of treatment are paramount in reaching a successful outcome. Patients with these tumors typically present with a triad of anemia, hepatomegaly, and precocious puberty. Cutaneous manifestations of ICC are extraordinarily rare with few documented cases. Here, we describe a male neonate who presented to our Dermatology clinic with a rapidly growing, markedly vascular glabellar mass associated with abnormal laboratory values suggestive of Kasabach-Merritt phenomenon. The initial clinical impression of infantile hemangioma led to an initial treatment with propranolol. However, the mass continued to enlarge and a biopsy was obtained. Histology revealed a high-grade, poorly differentiated carcinoma. A robust immunohistochemical battery demonstrated tumor reactivity with Glut-1, GATA3, Glypican-3, CAM5.2, and ß-hCG establishing the diagnosis of metastatic choriocarcinoma. The diagnosis was further supported by the elevated serum ß-hCG. In addition to the glabellar mass, imaging demonstrated tumor foci in the liver and lung. Clinical investigation of the mother revealed no evidence of disease.

Rapidly involuting congenital haemangioma of the liver.

Rapidly involuting congenital haemangiomas (RICHs) are rare benign vascular tumours of infancy. They are generally asymptomatic, but can present with thrombocytopaenia and coagulopathy. Significant complications including life-threatening bleeding, high-output heart failure and liver failure, though rare, can occur. RICHs generally regress by 12-14 months of age and can be managed clinically with symptomatic treatment, watchful waiting and close monitoring of the size of the haemangioma. Medical management (corticosteroids, propranolol) has not shown to be effective, in contrast to infantile haemangioma which will not regress spontaneously and has been noted to respond to medical therapy. Awareness of this diagnosis is important to prevent unnecessary medical and surgical intervention. Here, we present a case of a full-term infant with RICH who presented with thrombocytopaenia and abnormal coagulation profile. The coagulopathy was treated symptomatically, while the lesion was observed with serial ultrasounds and gradually decreased in size.

Clinically significant ascites as an indication for resection of rapidly involuting congenital hepatic hemangiomas.

Hepatic hemangiomas are the most common benign liver tumor of infancy and are divided into two main types: rapidly involuting congenital hemangiomas (RICH) and non-involuting congenital hemangiomas. RICH typically involute by 12 months and are often asymptomatic. Surgical resection is rare. Indications for surgical resection include rupture, rapid growth, consumptive coagulopathy, and abdominal pain. We present two patients from different institutions who both developed clinically significant ascites as the RICH involuted, prompting surgical resection. This is a new indication for resection.

Prenatal imaging of congenital hepatic tumors: a report of three cases.

The generalization of screening pregnancy ultrasound (US) studies has increased the detection of congenital tumors, including hepatic masses. In these cases, prenatal MRI is often used as a complementary imaging study. We present three cases of congenital hepatic tumors-two hemangiomas and one hamartoma-detected in utero and followed up in our institution. The retrospective analysis of their US and MRI prenatal imaging findings shows significant overlapping, indicating that the characterization of congenital hepatic tumors based exclusively on imaging findings is challenging.

Congenital hemangiomas.

Congenital hemangiomas are rare solitary vascular tumors that do not proliferate after birth. They are characterized as either rapidly involuting congenital hemangiomas (RICHs) or noninvoluting congenital hemangiomas (NICHs) based on their clinical progression. NICHs have no associated complications, but are persistent. RICH, while usually asymptomatic, may ulcerate or bleed early in their presentation, but involute quickly during the first few months of life. Hepatic RICHs are not associated with cutaneous RICHs, but may result in high-output cardiac failure due to arteriovenous or portovenous shunting. In the following review, the clinical characteristics and current management specific to congenital hemangiomas is discussed.

Valoración radiológica de los tumores congénitos / Radiological evaluation of congenital tumors

Los tumores congénitos son aquellos tumores diagnosticados durante el embarazo y los tres primeros meses de vida. Constituyen un grupo heterogéneo de neoplasias con unas características biológicas y epidemiológicas especiales que los diferencian del resto de los tumores pediátricos y de la edad adulta. Su detección prenatal ha aumentado en las dos últimas décadas debido a la generalización del cribado ecográfico prenatal. El desarrollo de las técnicas de imagen, especialmente la resonancia magnética (RM) fetal, ha permitido mejorar el diagnóstico, el seguimiento y el manejo clínico y terapéutico perinatal de estos tumores. Presentamos una revisión basada en imágenes de los tumores congénitos más frecuentes, describiendo los tipos histológicos, localizaciones y sus características en las distintas técnicas de imagen empleadas (AU)

In this article, we consider tumors that are diagnosed during pregnancy or in the first three months of life. This is a heterogeneous group of neoplasms with special biological and epidemiological characteristics that differentiate them from tumors arising in children or adults. In the last two decades, the prenatal detection of congenital tumors has increased due to the generalized use of prenatal sonographic screening. Advances in imaging techniques, especially in fetal magnetic resonance imaging, have enabled improvements in the diagnosis, follow-up, clinical management, and perinatal treatment of these tumors. This image-based review of the most common congenital tumors describes their histologic types, locations, and characteristics on the different imaging techniques used (AU)

Hepatoblastoma and hypoplastic kidneys: a new association.

Both hepatoblastoma and hypoplastic kidneys are rare in children. A review of all patients with hepatoblastoma treated at our institution between 1993 and 2011 revealed three cases of hepatoblastoma occurring in children with hypoplastic kidneys and significantly impaired renal function. Two patients were treated with doxorubicin-based therapy without cisplatin. One was treated with carboplatin. The former two are long-term survivors while the third patient died of sepsis following chemotherapy. This association is unlikely due to chance alone and chemotherapy regimens without cisplatin may be effective in treating these children.

Outcomes for patients with congenital hepatoblastoma.

BACKGROUND: Congenital hepatoblastoma, diagnosed in the first month of life, has been reported to have a poor prognosis; however, a comprehensive evaluation of this entity is lacking. PROCEDURE: We retrospectively reviewed two patients from the senior authors' personal series and 25 cases identified in the databases of several multicenter group studies (INT-0098, P9645, 881, P9346, HB 89, HB94, and HB 99). We compared this series with cases of congenital hepatoblastoma previously published in the literature. RESULTS: The 3-year survival in our case series was 86% (18/21) with a follow-up of 44-230 months (median 85.5 months). Presentation and treatment were not substantially different from hepatoblastoma cohorts unselected for age. Survival was comparable to the reported disease free survival for a similar cohort of hepatoblastoma patients unselected for age between 1986 and 2002 (82.5%) [von Schweinitz et al., Eur J Cancer 1997; 33:1243-1249]. The 2-year survival of cases reported in the literature was 0% (0/9) and 42% (10/24) for patients reported before and after 1990, respectively. CONCLUSIONS: Congenital hepatoblastoma does not appear to confer a worse prognosis. The improved survival of our current series of patients, collected from the past 20 years of German and American multicenter trials and personal series, suggests that the outcome of hepatoblastoma at this young age is much better than has been historically reported. More rigorous analysis should be conducted in future multicenter trials. It is possible that congenital hepatoblastoma should be treated like all other patients with hepatoblastoma provided that the child is stable enough to proceed with surgery and chemotherapy.