Multifocal Epitheloid Hemangioendothelioma of Liver after Long-Term Oral Contraceptive Use—A Case Report and Discussion of Management Difficulties Encountered

Singhal, Shashideep; Jain, Shilpa; Singla, Montish; Pippal, Ram Babu; Gondal, Ranjana; Agarwal, Anil; Kar, Premashis

doi:10.1007/s12029-009-9083-x

Cited by 11 publications

(7 citation statements)

References 16 publications

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“…The peak incidence (< 1/1 million) is in the fourth and fifth decade, but it can rarely occur also in children. Females under hormonal contraception seem to be affected more frequently as far as hepatic manifestations are concerned [58]. The degree of malignancy can vary and the overall survival has been reported to be 73% at 5 years.…”

Section: Diagnostic Imaging Workupmentioning

confidence: 99%

Vascular tumors in infants and adolescents

et al. 2019

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Malignant vascular tumors as part of the vascular anomalies spectrum are extremely rare in children and young adults. Instead, benign vascular neoplasias are frequently encountered in the pediatric patient population. While vascular malformations are congenital vascular lesions, originating from a mesenchymal stem cell defect, vascular tumors are neoplastic transformations of endothelial and other vascular cells. The appropriate differential diagnosis and nomenclature according to the classification of the International Society for the Study of Vascular Anomalies (ISSVA) is decisive to initiate correct therapy. While infantile hemangioma can be routinely diagnosed by clinical means and rarely require therapy, more rare vascular tumors are frequently difficult to diagnose, require dedicated cross-sectional imaging, and benefit from an interdisciplinary treatment approach. The focus of this review is to provide an overview over the spectrum of vascular tumors, typical imaging characteristics, and summarize treatment options including interventional radiology approaches.

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Section: Diagnostic Imaging Workupmentioning

confidence: 99%

Vascular tumors in infants and adolescents

et al. 2019

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“…An association with oral contraceptives has been suggested but not completely established. 4,5 An elevated serum CA19-9 level has been recently reported as a negative prognostic factor. 7 A clinical suspicion based on certain features, such as occurrence in younger adults, positive imag-ing findings of numerous intrahepatic tumors with intratumoral calcifications, and slow course of the disease, are suggestive for HEHE.…”

Section: Discussionmentioning

confidence: 99%

“…An association of HEHE with oral contraceptives has been suggested but not completely established. 4,5 HEHE represents a diagnostic challenge, and its rarity precludes establishment of a standard of care. This case report describes a patient who presented with abdominal pain for whom further diagnostic workup revealed hereditary hemochromatosis and HEHE.…”

Section: Learning Objectivesmentioning

confidence: 99%

Hepatic Epithelioid Hemangioendothelioma in a Patient With Hemochromatosis

Ahmad¹,

Adams²,

Wang³

et al. 2014

J Natl Compr Canc Netw

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Hepatic epithelioid hemangioendothelioma (HEHE) is a rare hepatic vascular tumor that represents a diagnostic challenge. The rarity of this neoplasm precludes establishment of a standard-of-care treatment. Risk factors for HEHE are not well-known. Liver transplant remains the most common therapeutic modality for nonmetastatic disease. This article describes a patient who presented with abdominal pain, fatigue, poor appetite, and weight loss. Genetic testing showed that the patient was homozygous for C282Y consistent with hereditary hemochromatosis, and liver biopsy was consistent with malignant epithelioid hemangioendothelioma. The patient was referred for a liver transplant but was deemed inappropriate for transplant secondary to peritoneal studding, with frozen-section analysis showing metastatic disease at the time of surgery.

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“…However, correct diagnosis and clear differentiation from other tumors, especially vascular neoplasms (angiosarcoma), is critical for prognostic and therapeutic reasons . Etiology and risk factors for EHE are widely unknown, although as one possible etiology long‐term use of oral contraceptive has been discussed . In recent years, more light has been shed on the molecular background of EHE.…”

Section: Introductionmentioning

confidence: 99%

“…6 Etiology and risk factors for EHE are widely unknown, although as one possible etiology long-term use of oral contraceptive has been discussed. 7 In recent years, more light has been shed on the molecular background of EHE. As one molecular founder event, EHE (at any site) display either a characteristic fusion transcript of yes-associated protein and transcription factor E3 (TFE3), 8 reported in~10% of EHE, or a fusion transcript of CAMTA1 and WWTR1, respectively, 9,10 in roughly 90% of EHE, suggesting a dysregulation of the Hippo pathway in the majority of EHE and as a potential cause of their development.…”

Section: Introductionmentioning

confidence: 99%

Molecular characterization of hepatic epithelioid hemangioendothelioma reveals alterations in various genes involved in DNA repair, epigenetic regulation, signaling pathways, and cell cycle control

Mogler

Koschny

Heilig

et al. 2019

Genes Chromosomes & Cancer

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Epithelioid hemangioendotheliomas (EHE) of the liver are rare, low‐malignant vascular tumors whose molecular pathogenesis is incompletely understood. The diagnosis of EHE is challenging, and the course of the disease can be highly variable. Therapeutic options for EHE are limited, including resection of primary and metastatic tumors, organ transplantation and rather ineffective systemic approaches. Driver mutations have been reported (fusion transcripts of either YAP‐TFE3 or WWTR1‐CAMTA1) but comprehensive molecular profiling has not been performed. Our aim was to molecularly characterize hepatic EHE to identify new molecular targets. Eight primary hepatic EHE were analyzed by next‐generation sequencing using a 409‐gene panel. The majority of primary hepatic EHE revealed a low number of mutations. Genes that were mutated primarily are involved in DNA repair, epigenetic regulation, signaling pathways and cell cycle control, indicating that EHE present with mutations in various functions. Although only detecting a low mutation rate, a comparison with comprehensive databases (target db V3) revealed mutations in five genes with putative therapeutical options. Therefore, our findings help to shed light on the molecular background of EHE and might pave the way to new therapeutic approaches.

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Multifocal Epitheloid Hemangioendothelioma of Liver after Long-Term Oral Contraceptive Use—A Case Report and Discussion of Management Difficulties Encountered

Abstract: A clinical suspicion based on demographics, risk factors and imaging, familiarity with the pathologic findings, and utilization of advanced imaging techniques may allow early diagnosis of these tumors and hence their appropriate management.

Cited by 11 publications

References 16 publications

Vascular tumors in infants and adolescents

Vascular tumors in infants and adolescents

Hepatic Epithelioid Hemangioendothelioma in a Patient With Hemochromatosis

Molecular characterization of hepatic epithelioid hemangioendothelioma reveals alterations in various genes involved in DNA repair, epigenetic regulation, signaling pathways, and cell cycle control

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