Congenital fulminant Kaposiform hemangioendothelioma of the leg.

Kaposiform hemangioendothelioma is a rare locally aggressive vascular tumor associated with Kasabach Merritt syndrome. We present a case of congenital Kaposiform hemangioendothelioma of the leg in a female infant who was born to a mother treated with various medications including etanercept, a TNF antagonist, due to rheumatoid arthritis. The neonate suffered from a fulminant form of Kasabach Merritt syndrome with disseminated intravascular coagulation (DIC) resulting in multi-organ failure which led to her demise.

Congenital kaposiform hemangioendothelioma with Kasabach-Merritt phenomenon successfully treated with low-dose radiation therapy.

Kaposiform hemangioendothelioma (KHE) associated with Kasabach-Merritt phenomenon is a life-threatening vasculopathy. The current mainstay treatment for KHEs is corticosteroids and chemotherapy, but these medications do not work for all patients and carry significant side effects. We report a neonate with a large congenital KHE who responded extremely well to low-dose radiation therapy.

Masson tumor arising in a congenital vascular anomaly.

Congenital and infantile Masson's tumors are rare. We report a case of Masson's tumors arising within a congenital vascular mass in an otherwise healthy infant. The diagnosis was made following surgical excision and supported by histologic staining. There has been no recurrence of the lesions to date.

[Kaposiform haemangioendothelioma associated with B-cell acute lymphoblastic leukemia]. / Hémangioendothéliome kaposiforme associé à une leucémie aiguë lymphoblastique B.

BACKGROUND: Herein, we report the first case of kaposiform haemangioendothelioma (KHE) associated with acute B-lymphoblastic leukemia (B-ALL). PATIENTS AND METHODS: A five-month-old infant presented a plaque of angiomatous appearance on the forearm that had increased in volume since birth, as well as pallor and cutaneous haematomas. Kasabach-Merritt syndrome (KMS) was evoked despite hepatomegaly and considerable splenomegaly. Laboratory tests revealed severe anaemia and thrombocytopenia as well as major hyperleukocytosis with 90% blasts. Skin biopsy revealed vast vascular lobules containing cohesive fusiform endothelial cells not expressing Glut1, bound up in a dense infiltrate of B-lymphoblast cells. It was in fact KHE associated with B-ALL confirmed by the myelogram. The child was treated with the INTERFANT 2006 protocol followed by allograft of haematopoietic stem cells, which resulted in complete haematological remission. At the same time, almost total regression of KHE was noted. DISCUSSION: In this infant, KHE had an inflammatory appearance and was associated with thrombocytopenia, evocative of KMS. Analysis of blood and marrow samples resulted in a diagnosis of B-ALL. Histopathological examination of the angioma revealed a typical appearance of KHE associated with dense lymphoblastic proliferation. This appearance could have resulted either from passive contamination by circulating blast cells or from active recruitment of tumor cells at the KHE site. CONCLUSION: HK mimicking KMS may reveal B-ALL.

Massive congenital kaposiform hemangioendothelioma of the eyelid in a neonate.

BACKGROUND: Kaposiform hemangioendothelioma (KHE) is a rare and aggressive vascular tumor of infancy and childhood. It is associated with the development of Kasabach-Merritt syndrome, a life-threatening consumptive thrombocytopenia. We report an interesting case of a massive periorbital congenital KHE in a neonate to raise awareness of this aggressive diagnosis. METHODS: A male neonate presented with a large congenital mass of the lower eyelid. To prevent development of amblyopia, this mass was surgically excised on the sixth day of life. RESULTS: Histologic investigation demonstrated spindle-shaped endothelial cells with surrounding crescentic vessels, which were GLUT-1 receptor-negative and D2-40 receptor-positive, consistent with KHE. Surgical excision of the periorbital KHE successfully cleared the neonate's visual axis. At 1 year of follow-up, there was no evidence of tumor recurrence, and visual development was progressing normally. A pleasing surgical result was achieved without periorbital distortion. CONCLUSIONS: Pediatric vascular tumors have historically been wrought with diagnostic confusion. With recent advances in immunohistochemistry, this previously uncharacterized group of tumors has been differentiated into multiple distinct clinical entities. Accurate and timely diagnosis is paramount because these tumors vary greatly in their clinical behavior, prognosis, and recommended treatment. Surgical excision is preferred and necessary in a neonate with visual access obstruction to prevent amblyopia and irreversible blindness.

Vascular anomalies: what they are, how to diagnose them, and how to treat them.

Vascular anomalies are congenital lesions that most often first present in pediatric patients. Treatment of these lesions is a multidisciplinary team approach, involving several specialties, including diagnostic and interventional radiology, dermatology, general and plastic surgery, otolaryngology, and hematology. Knowing the characteristic findings of vascular anomalies on ultrasound, computed tomography, and magnetic resonance imaging leads to early, accurate diagnosis and therapeutic intervention of these lesions. This article discusses the gross and radiographic appearances and the latest treatment options for vascular anomalies.

Ex-utero intrapartum treatment procedure for giant neck masses--fetal and maternal outcomes.

BACKGROUND/PURPOSE: For fetuses with giant neck masses and tracheal obstruction, an ex-utero intrapartum treatment (EXIT) procedure allows for safe nonemergent airway management while on placental support. Our objective was to examine fetal and maternal outcomes after EXIT procedure specifically for giant neck masses. METHODS: The medical records of all patients referred to a comprehensive fetal center for a giant neck mass between 2001 and 2010 were reviewed retrospectively. RESULTS: Among 24 patients referred, an EXIT procedure was performed in 12 with evidence of tracheal compression. An EXIT procedure was not performed because of minimal tracheal involvement (n = 8), elective abortion (n = 2), fetal demise (n = 1), or obstetric complication (n = 1). In all fetuses, the airway was successfully secured; tracheal intubation was achieved with rigid bronchoscopy (n = 10), direct laryngoscopy (n = 1), and tracheostomy (n = 1). Eleven patients survived to discharge, whereas 1 patient with significant pulmonary hypoplasia died 8 days after emergency EXIT procedure. Of 11 surviving infants, 10 are neurodevelopmentally intact. All mothers who desired future pregnancies have subsequently had uncomplicated deliveries (n = 6). CONCLUSIONS: Ex-utero intrapartum treatment procedure for giant neck mass can be performed safely for both mother and child. Most fetuses can be orotracheally intubated with minimal long-term morbidity. The potential for future pregnancies is preserved.

Mediastinal and neck kaposiform hemangioendothelioma: report of three cases.

Kaposiform hemangioendothelioma is an aggressive vascular tumor, named for its striking histologic resemblance to Kaposi sarcoma and locally invasive growth. Mortality is high, and ranges from 10% to 24% for all kaposiform hemangioendothelioma lesions, with a significantly higher mortality for deep soft-tissue or visceral lesions occurring in infants less than 6 months. Mediastinal and neck kaposiform hemangioendothelioma in particular merit special discussion, as involvement of these critical anatomic locations results in significant site-specific therapeutic challenges due to invasion of vital structures, inherent delays in establishing histopathologic confirmation, and difficulties in monitoring disease status. We report our experience with three cases of mediastinal and neck kaposiform hemangioendothelioma, emphasizing the unique diagnostic and management challenges, variable response to treatment and outcome of this anatomic variant of kaposiform hemangioendothelioma.

[Soft tissue tumors in neonates]. / Les tumeurs mésenchymateuses du nouveau-né.

Soft tissue tumors account for approximately 25% of neonatal tumors and are most often benign (more than 2/3 of cases). Vascular tumors are the most frequent benign tumors and infantile hemangioma accounts for 32% of these tumors, affecting 1 out of 200 children at birth. Kaposiform hemangioendothelioma (KH) is a rare vascular tumor with locally aggressive behavior. More than 50% of KH are associated with the Kasabach-Merritt phenomenon, a condition characterized by thrombocytopenia and consumptive coagulopathy. Malignant soft tissue tumors are, after neuroblastoma, the second cause of cancer in neonates. Infantile fibrosarcoma (IF) is a rare tumor that most often affects the extremities of children aged 4 years or younger. A recurrent t(12;15) (p13;q25) rearrangement fusing the ETV6 gene with the NTRK3 neurotrophin-3 receptor gene has been identified in IF. Complete conservative surgical resection is usually curative. Chemotherapy is indicated when initial surgical removal cannot be accomplished without unacceptable morbidity. Prognosis of IF is excellent, with reported overall survival rates ranging from 80 to 100%. Neonatal rhabdomyosarcoma (RMS) is a rare tumor (0.5-1% of RMS). The primary tumor predominantly involves the limbs and the genitourinary tract. Treatment is based on age-adapted chemotherapy and surgery. Prognosis of RMS in children less than 1 year old appears to be comparable with that of older children.

Uncommon benign infantile vascular tumors.

Significant progress in the diagnosis of infantile vascular tumors has been achieved during the past 2 decades because of improvements in the recognition of clinical characteristics, radiologic features, and histopathologic analysis, as well as the discovery of important immunophenotypic markers such as GLUT-1. These recent advances make it possible to define more clearly the distinct clinical entities with their variable prognoses and to improve the management of lesions that, although histologically benign, infrequently may be lethal because of their invasive potential.

Hepatic mesenchymal hamartoma combined with infantile hepatic hemangioendothelioma in an infant.

Hepatic mesenchymal hamartoma is a rare benign tumor in children, and infantile hepatic hemangioendothelioma is also a rare liver neoplasm. We report a female newborn with an abdominal mass noted by the regular maternal ultrasound at 32 weeks of gestation. After birth, a liver mass was detected by computed tomography and magnetic resonance cholangiopancreatography. Frequent postprandial vomiting and progressive abdominal distension occurred 4 months later. Three tumor masses were detected this time, and the serum alpha-fetoprotein (AFP) was 6700 ng/mL. Segmental resection was performed initially and complete resection of these tumors and left lobectomy were performed 21 days later. Pathologic examination of these liver masses revealed mesenchymal hamartoma combined with infantile hepatic hemangioendothelioma. After half a year of regular follow-up, the AFP level decreased gradually to 79.5 ng/mL, without evidence of tumor recurrence.

Infantile hepatic hemangioendothelioma with elevated serum alpha-fetoprotein.

Infantile hemangioendothelioma is the most common hepatic vascular tumor in infants less than 6 months of age, with a prevalence of 1%. Serum alpha-fetoprotein levels have been used as an important tumor marker for hepatoblastoma, hepatocellular carcinoma, and germ cell tumors. It is rarely elevated in hepatic hemangioendothelioma. The authors report an infant with a hepatic hemangioendothelioma associated with elevation of serum alpha-fetoprotein who was treated with corticosteroids. In young infants, a solitary hepatic mass and elevated serum AFP level may not always be associated with hepatoblastoma. Infantile hemangioendothelioma must be differentiated by MRI or other radiological techniques before performing invasive procedures.

Multifocal lymphangioendotheliomatosis with thrombocytopenia.

Multifocal lymphangioendotheliomatosis with thrombocytopenia is an extremely rare disease. This condition manifests as diffuse congenital vascular lesions in the skin and gastrointestinal tract leading to severe gastrointestinal bleeding and thrombocytopenia. Histopathologic and immunohistochemical studies of vascular lesions demonstrate a lymphatic endothelial cell origin. Treatment often is not satisfactory. We herein describe a 4-week-old infant with this uncommon clinicopathologic entity.

[Thoracic kaposiform hemangioendothelioma. Four consecutive cases with distinct outcome]. / Hemangioendotelioma kaposiforme torácico. Cuatro casos con evolución variable.

INTRODUCTION: Kaposiform hemangioendothelioma (KHE) is a rare, frequently congenital, neoplasm associated with the Kasabach-Merritt phenomenon (KMP) and predilection for the trunk. Its clinical course is unpredictable. A child with KHE can die as a result of hemorrhage or show early spontaneous regression. In addition various and concurrent therapies can be used to treat this tumor and it is difficult to predict which treatment will be successful. MATERIAL, METHODS AND RESULTS: We present four consecutive cases of KHE (larger than 20 cm) of the thorax. All patients developed KMP, without skin involvement in one patient. Patient 1, a neonate with KHE occupying both hemithoraces (nearly 50% of the body surface area), died shortly after birth due to coagulopathy and generalized bleeding. Patient 2, a neonate, was treated with interferon alpha-2a and showed accelerated correction of coagulopathy and complete tumoral regression at 9 months. Patient 3 showed no response to steroids, interferon or vincristine therapy. Thrombocytopenia (platelet count 40,000) persisted for 8 years and was resolved by administration of aspirin plus ticlopidine, without tumoral disappearance. Patient 4 underwent incomplete removal of the tumor on her right chest wall after showing no response to antiangiogenic therapy. The coagulopathy persisted and a second radical surgical procedure resolved KMP. CONCLUSION: Given the variable response to pharmacological treatment and the scant possibilities of surgical resection, the management of KHE with KMP must include a multidisciplinary approach. As little is known about the pathogenesis of these highly aggressive vascular tumors, further molecular research is needed to understand their long-term behavior.

Elevated plasma vascular endothelial growth factor levels in 2 patients with hemangioendothelioma.

Two patients with hemangioendothelioma and elevated plasma vascular endothelial growth factor (VEGF) levels are presented. A reduction in the plasma VEGF level after therapeutic intervention correlated with a successful clinical response. Conversely, a stable plasma VEGF level correlated with therapeutic failure.