Congenital hemihypertrophy and epithelioid haemangioendothelioma in a 10-year-old boy: a case report

Miller, J. H.; Gillet, P; Hendry, G. M. A.; Wallace, W. Hamish B.

doi:10.1007/s002470050661

Cited by 20 publications

(8 citation statements)

References 8 publications

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“…Also, it is interesting to note that the child reported by Miller et al. in 1999 (case 14, Table ) presented with hypertrophy of the left lower extremity and an incidental diagnosis of multifocal EHE of the liver and lungs.…”

Section: Discussionmentioning

confidence: 88%

Epithelioid hemangioendotheliomas of the liver and lung in children and adolescents

Hettmer

Andrieux

Hochrein

et al. 2017

Pediatric Blood & Cancer

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Epithelioid hemangioendothelioma (EHE) is a rare, vascular sarcoma. Visceral forms arise in the liver/ lungs. We review the clinical and molecular phenotype of pediatric visceral EHE based on the case of a 9-year-old male child with EHE of the liver/lungs. His tumor expressed the EHE-specific fusion oncogene WWTR1-CAMTA1. Molecular characterization revealed a low somatic mutation rate and activated interferon signaling, angiogenesis regulation, and blood vessel remodeling. After polychemotherapy and resection of lung tumors, residual disease remained stable on oral lenalidomide. Literature review identified another 24 children with EHE of the liver/lungs. Most presented with multifocal, systemic disease. Only those who underwent complete resection achieved complete remission. Four children experienced rapid progression and died. In six children, disease remained stable for years without therapy. Two patients died from progressive EHE 21 and 24 years after first diagnosis. Natural evolution of pediatric visceral EHE is variable, and long-term prognosis remains unclear.

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Section: Discussionmentioning

confidence: 88%

Epithelioid hemangioendotheliomas of the liver and lung in children and adolescents

Hettmer

Andrieux

Hochrein

et al. 2017

Pediatric Blood & Cancer

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show abstract

“…These radiological features on CT and MRI should suggest the diagnosis of extensive EHE and can help in differentiating EHE from abscesses or other hepatic tumours such as cholangiocarcinoma, liver metastasis, haemangioma, etc. [1,5,6,10,11,12,13].…”

Section: Discussionmentioning

confidence: 99%

“…Surgical resection is the treatment of choice for localized lesions. Pharmacological treatment using interferon, interleukin-2 and retinoids have been used with variable results [1,12,13]. Orthotopic liver transplantation remains an option in young patients with no evidence of extrahepatic extension [12,13].…”

Section: Discussionmentioning

confidence: 99%

Epithelioid haemangioendothelioma (2004:3b)

Ghekiere

Weynand²,

Pieters³

et al. 2004

European Radiology

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Part 1Case history A 55-year-old Algerian woman presented in January 2001 with a dry cough and joint pain. She had never smoked and was not on medication. Her medical history was unremarkable apart from tuberculosis of the spine at 3 years of age. On examination, she had palpable oedema. She was treated with AINS (Diclofenac 100 mg) with significant improvement, but 1 day later she complained of dyspnoea grade I-II. Physical examination revealed painful clubbing of the fingernails and skin dryness. Both lung and heart sounds were normal. The oxygen saturation was 98% while the patient was breathing ambient air. Laboratory tests revealed a mild inflammatory syndrome with a C-reactive protein (CRP) level of 5.7 mg/dl. The erythrocyte sedimentation rate was 46 mm/h. Renal function was within normal limits. Tumour markers (NSE, CEA, AFP and Ca 19-9) were negative.Pulmonary function tests were performed and showed a total lung capacity (TLC) of 3.5 l (64% of the predicted value) and a forced expiratory volume at 1 s (FEV1) of 69% of the predicted value; forced vital capacity (FVC) of 65%; FEV1/FVC of 77%; and carbon monoxide diffusing capacity of 84%. Findings were consistent with a mild restrictive pattern.High-resolution CT of the chest (Fig. 1), early arterial enhanced CT (Fig. 2) and delayed enhanced MR of the abdomen (Fig. 3) were performed.Broncho-alveolar lavage fluid cell count showed 88% macrophages, 10% lymphocytes, 2% neutrophils and no malignant cells.

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“…12 Serum AFP levels, metabolic conditions like tyrosinemia type I, glycogen storage disease, or hemihypertrophy in the patient can also contribute to differential diagnosis of these lesions and abdominal ultrasonography and MRI findings. 1,12,13 Contrary to BWS, there is a low risk of tumor development in IHH. 14 The reason for this is the lack of a clear definition for ''hyperplasia.''…”

Section: Discussionmentioning

confidence: 99%

Focal Nodular Hyperplasia of the Liver and Elevated α Fetoprotein Level in an Infant With Isolated Hemihyperplasia

Demir

Varan²,

Akçören³

et al. 2008

Journal of Pediatric Hematology/Oncology

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A case of focal nodular hyperplasia of the liver in a 43-day-old baby girl with isolated hemihyperplasia and elevated serum alpha-fetoprotein is presented. The child referred to our hospital with bilateral renal masses detected by prenatal and postnatal ultrasonography. A mass lesion was detected in segment 6 of liver and was diagnosed as focal nodular hyperplasia. We present this case to emphasize the presence of focal nodular hyperplasia in a patient with isolated hemihypertrophy and elevated serum alpha-fetoprotein level.

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Congenital hemihypertrophy and epithelioid haemangioendothelioma in a 10-year-old boy: a case report

Cited by 20 publications

References 8 publications

Epithelioid hemangioendotheliomas of the liver and lung in children and adolescents

Epithelioid hemangioendotheliomas of the liver and lung in children and adolescents

Epithelioid haemangioendothelioma (2004:3b)

Focal Nodular Hyperplasia of the Liver and Elevated α Fetoprotein Level in an Infant With Isolated Hemihyperplasia

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