Primary intraosseous papillary intralymphatic angioendothelioma of the distal femoral epiphysis: a case report with literature review.

INTRODUCTION: Papillary intralymphatic angioendothelioma (PILA) is an exceptionally rare metastasizing soft tissue tumor. It tends to arise in the subcutaneous tissues of distal extremities in children. Only four intraosseous PILA cases have been reported until now in English language literature. CASE REPORT: We present a case of PILA arising in the distal femoral epiphysis of a 50-year-old female patient. It started as a relentless pain in her left knee. A plain radiography revealed a radiolucent area in the left internal femoral condyle. Computerized tomography revealed a 1-cm lytic lesion with a sclerotic rim. Magnetic resonance images showed a significant bone marrow edema signal focused on a 1-cm subchondral lesion suggestive of an intraarticular osteoid osteoma. Histologically, the tumor contained vascular channels covered by a single endothelial layer with intraluminal papillary endothelial structures lined with hobnail cells. Immunohistochemically, the cells were positive for ERG, CD31, and D2-40. The tumor underwent cryoablation and 6 months later, after local recurrence or tumor persistence, a wide tumor resection was referred. After 7 years of follow-up, the patient displayed neither local recurrence nor distant metastases. CONCLUSION: Primary intraosseous PILAs are exceedingly rare tumors that should be considered in the differential diagnosis of vascular bone tumors.

Vascular tumors of intermediate malignancy: An update.

The term "hemangioendothelioma" is used for endothelial neoplasms of intermediate malignancy and describes a group of rare neoplasms having biologic behavior falling in between that of the benign hemangiomas and fully malignant angiosarcomas. The hemangioendotheliomas fall into several specific, clinicopathologically and genetically distinct entities, specifically epithelioid hemangioendothelioma, kaposiform hemangioendothelioma, papillary intralymphatic angioendothelioma and retiform hemangioendothelioma (hobnailed hemangioendothelioma), pseudomyogenic hemangioendothelioma, composite hemangioendothelioma, and YAP1::TFE3-fused hemangioendothelioma. The clinical, morphologic, immunohistochemical, and genetic features, and the differential diagnosis of each of these rare entities are discussed in this review.

Papillary Intralymphatic Angioendothelioma in a Child With PIK3CA-Related Overgrowth Spectrum: Implication of PI3K Pathway in the Vascular Tumorigenesis.

Papillary intralymphatic angioendothelioma (PILA) is an extremely rare vascular tumor and its pathogenesis is unknown. Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum (PROS) is a heterogeneous group of disorders caused by mosaicism for activating mutations of PIK3CA and characterized by asymmetric overgrowth, skeletal anomalies, skin lesions, and vascular malformations. An association between PILA and PROS has not been known. We report a case of PILA involving the spleen of a young girl with the clinical and molecular diagnosis of PROS. Sequencing of the patient's germ-line DNA detected a pathogenic PIK3CA variant c.1357G>A in 10.6% of alleles. Splenectomy revealed a 4-cm tumor composed of ectatic lymphatics with intraluminal papillary projections, consistent with PILA. The tumor cells showed immunohistochemical expression of CD31, CD34, ERG, FLI-1, PROX1, and caldesmon, while D2-40 was negative. The latter may suggest that the tumor derived from an endothelial precursor arrested in the final steps of lymphothelial differentiation, in keeping with the known role of the PIK3CA-governed molecular pathway in the progression of vascular progenitors to mature endothelial cells. The data implicates PIK3CA in the pathogenesis of PILA and broadens the spectrum of phenotypic expressions of PROS.

Paraganglioma. Presentación de caso / Paraganglioma. Case presentation / Paraganglioma. Apresentação do caso

RESUMEN El Paraganglioma es un tumor poco frecuente de origen neuroectodérmico derivado del sistema nervioso autónomo. Acude a consulta paciente masculino de 52 años de edad, procedencia rural con antecedente de salud. El cual acude a la consulta, refiriendo que hace más menos 6 meses presenta un aumento de volumen en la región lateral izquierda del cuello, que fue aumentando de tamaño progresivamente, sin presentar dolor. Se le realizó biopsia incisiónal, que confirmó un Angioendotelioma papilar seromatoso; luego de la excerilisis presentó dehiscencia de la herida y aumento de tamaño de la lesión en forma de ulcerada de más menos 10cm, por lo que es remitido al Hospital Oncológico de Santiago de Cuba, centro donde se decide su inscripción para evaluar inicio de tratamiento oncoespecifico. En el examen de la lámina se diagnostica histopatológicamente un Ganglioma sugiriéndose estudio en centro de referencia nacional. Se aplicó tratamiento quirúrgico. El tratamiento de elección fue la cirugía con su embolización previa. Se recomendó seguimiento a largo plazo del paciente por el alto riesgo recurrente de enfermar.

ABSTRACT Paraganglioma is a rare tumor of neuroectodermal origin derived from the autonomic nervous system. A 52-year-old male patient, rural origin with a health history, comes to the office. The patient attended the consultation, reporting that for more than 6 months he had an increase in volume in the left lateral region of the neck, which was progressively increasing in size, without presenting pain. An incision biopsy was performed, which confirmed a seromatous papillary angioendothelioma; After excerilysis, he presented dehiscence of the wound and an increase in the size of the lesion in the form of an ulcerated lesion of more than 10cm, for which he was referred to the Oncological Hospital of Santiago de Cuba, a center where his registration was decided to evaluate the start of cancer-specific treatment . In the examination of the lamina a ganglioma is diagnosed histopathologically, suggesting study in a national reference center. Surgical treatment was applied. The treatment of choice was surgery with its prior embolization. Long-term follow-up of the patient was recommended due to the high recurrent risk of illness.

RESUMO O paraganglioma é um tumor raro de origem neuroectodérmica derivado do sistema nervoso autônomo. Paciente do sexo masculino, 52 anos, origem rural e histórico de saúde, chega ao consultório. O paciente compareceu à consulta, relatando que há mais de 6 meses apresentou aumento de volume na região lateral esquerda do pescoço, que foi aumentando de tamanho progressivamente, sem apresentar dor. Foi realizada biópsia incisional, que confirmou um angioendotelioma papilar seromatoso; Após a excerilise, apresentou deiscência da ferida e aumento do tamanho da lesão em forma de lesão ulcerada de mais de 10cm, pela qual foi encaminhado ao Hospital Oncológico de Santiago de Cuba, centro onde se decidiu seu cadastro para avaliar o início do tratamento específico do câncer . No exame da lâmina é feito o diagnóstico histopatológico de ganglioma, sugerindo estudo em centro de referência nacional. O tratamento cirúrgico foi aplicado. O tratamento de escolha foi a cirurgia com sua embolização prévia. O acompanhamento em longo prazo do paciente foi recomendado devido ao alto risco recorrente de doença.

Cystic lymphangiomatous lesions of the adrenal gland: A clinicopathological study of 37 cases including previously unreported cysts with papillary endothelial proliferation.

Published data regarding lymphangiomatous cysts of the adrenal glands (also known as adrenal cystic lymphangiomas) are limited to case reports and a few small case series. We analyzed the clinicopathologic features and histomorphologic spectrum of 37 cases of adrenal cystic lymphangiomatous lesions. There were 26 females and 11 males ranging from 12 to 67 years old (median, 34 years). Twenty two lesions (59.5%) were diagnosed incidentally on imaging studies for unrelated causes, while 15 cases (40.5%) were symptomatic: 8 patients presented with abdominal or flank pain and 7 patients presented with arterial hypertension. Clinically, 4 lesions (10.8%) were reported to have concurrent hormonal hypersecretion. Follow-up data were available for 23 patients (62.2%), ranging from 6 to 156 months (median, 52 mo). One of the 22 patients showed local recurrence at 12 months after partial adrenalectomy. The median size of the adrenal lymphangiomatous cysts was 4.5 cm (range, 1.5 to 10 cm). Based on the histopathologic findings these lesions were grouped into three, morphologically distinct types: typical multicystic lymphatic malformation (n = 16), typical unilocular lymphangiomatous cyst (n = 14) and lymphangiomatous cyst with papillary endothelial proliferation (n = 7). The median patient age of the first group was significantly higher than that of the other groups and calcifications in these cysts were more common than in the other two groups. The unilocular lymphangiomatous cysts were more frequently associated with a history of previous intra-abdominal surgical procedures and/or inflammatory processes than the other two groups. Cysts with papillary endothelial proliferation were significantly larger than other cysts and shared some microscopic features with a vascular neoplasm known as papillary intralymphatic angioendothelioma (PILA). In conclusion, adrenal lymphangiomatous cysts are usually asymptomatic, incidentally diagnosed lesions with a female predominance. They may imitate other adrenal tumors, both radiologically and clinically. Despite being non-functioning lesions, they should be considered as a possible cause of pseudopheochromocytoma. Although most adrenal lymphangiomatous cysts seem to be non-neoplastic, vascular abnormalities (malformations or lymphangiectasias), those with papillary endothelial proliferations may represent true neoplastic lesions.

Intraosseous papillary intralymphatic angioendothelioma (PILA): one new case and review of the literature.

BACKGROUND: Papillary intralymphatic angioendothelioma (PILA) is a locally aggressive, rarely metastasizing vascular tumor, generally occurring in the soft tissues, with less than 40 cases described in the literature and only three cases reported in bone. CASE PRESENTATION: We describe the case of a 51-year-old male with an intraosseous PILA of the proximal edge of his left clavicle and two other lesions evident on imaging. The patient was treated with marginal resection of the clavicle lesion but was lost to follow-up 1 month after surgery. CONCLUSIONS: PILA can also occur in bone, albeit very rarely, and has to be considered in the differential diagnosis of vascular bone tumors.

Myoid Angioendothelioma of the Spleen: A Rare Case Report and Literature Review.

Most common tumors of the spleen are hematologic and lymphoid malignancies. Non-lymphoid and non-hematologic tumors of the spleen are very rare, the most common of which are vascular tumors. This group of tumors in the spleen is composed of heterogeneous tumors such as hemangioma, angioendothelioma (AE), littoral cell angioma, and angiosarcoma. There are several histologic forms of AE such as epithelioid AE, Kaposiform AE, and myoid AE. Among these splenic vascular tumors, myoid angioendothelioma (MAE) seems to be the least common type. It is a distinct tumor; composed of endothelium-derived tumor cells and a special type of stromal tumor cells that seems to have borderline low-grade malignant potential. Herein, we report our experience with a young woman presented with chronic abdominal pain and splenic mass that turned out to be myoid AE of spleen with an uneventful surgery and excellent recovery period. To the best of our knowledge, such an occurrence is very rare in the spleen.