Dataset Information

Kaposiform lymphangiomatosis and kaposiform hemangioendothelioma: similarities and differences.

ABSTRACT:

Background

Kaposiform lymphangiomatosis (KLA) and kaposiform hemangioendothelioma (KHE) are rare and aggressive vascular disorders. The aim of this study was to examine the clinical features and prognosis of KLA and KHE involving the thorax.

Methods

The clinical features, imaging and pathological findings, treatments and outcome were retrospectively reviewed for 6 patients with KLA and 7 patients with KHE involving the thorax.

Results

The mean ages at the time of the presentation of signs/symptoms were 26.7?months and 4.1?months for KLA and KHE, respectively. Respiratory symptoms, pericardial and pleural effusion, thrombocytopenia and coagulopathy were common in both KLA and KHE. Diffuse lesions involving the lung and extrathoracic sites were observed in KLA but not in KHE. Histopathologically, all lesions had spindled tumor cells, which were immunoreactive for CD31 and D2-40. In KLA, the spindle cells were distributed in sparse and poorly marginated clusters, whereas the spindle cells formed more defined and confluent vascularized nodules in KHE. Unlike the refractory behavior of KLA, the majority of patients with KHE responded to medical treatments with regression of the lesion and normalization of the hematologic parameters.

Conclusions

The presenting and histological characteristics of KLA can overlap with those of KHE. The presence of diffuse vascular lesions in the mediastinum and lung with refractory thrombocytopenia and coagulopathy should suggest the diagnosis of KLA. Given the rarity and high morbidity and mortality of these disorders, the diagnostic process and therapeutic approach should include a multidisciplinary team review and consensus.

SUBMITTER: Ji Y

PROVIDER: S-EPMC6612206 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature

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Publications

Kaposiform lymphangiomatosis and kaposiform hemangioendothelioma: similarities and differences.

Ji Yi Y Chen Siyuan S Peng Suhua S Xia Chunchao C Li Li L

Orphanet journal of rare diseases 20190705 1

<h4>Background</h4>Kaposiform lymphangiomatosis (KLA) and kaposiform hemangioendothelioma (KHE) are rare and aggressive vascular disorders. The aim of this study was to examine the clinical features and prognosis of KLA and KHE involving the thorax.<h4>Methods</h4>The clinical features, imaging and pathological findings, treatments and outcome were retrospectively reviewed for 6 patients with KLA and 7 patients with KHE involving the thorax.<h4>Results</h4>The mean ages at the time of the presen ...[more]

PMID: 31277673

Similar Datasets

Project description:BackgroundKaposiform lymphangiomatosis (KLA) is a complex lymphatic anomaly involving most commonly the mediastinum, lung, skin and bones with few effective treatments. In recent years, RAS-MAPK pathway mutations were shown to underlie the pathogenesis of several complex lymphatic anomalies. Specifically, an activating NRAS mutation (p.Q61R) was found in the majority of KLA patients. Recent reports demonstrated promising results of treatment with the MEK inhibitor, Trametinib, in patients with complex lymphatic anomalies harboring gain of function mutations in ARAF and SOS1, as well as loss of function mutation in the CBL gene, a negative regulator of the RAS-MAPK pathway. We present a 9-year-old child with a severe case of KLA harboring the typical NRAS (p.Q61R) mutation detected by plasma-derived cell free DNA, responsive to trametinib therapy.MethodsThe NRAS somatic mutation was detected from plasma cfDNA using droplet digital PCR. Concurrent in-vitro studies of trametinib activity on mutant NRAS affected lymphatic endothelial cells were performed using a three-dimensional spheroid sprouting assay.ResultsTrametinib treatment lead to resolution of lifelong thrombocytopenia, improvement of pulmonary function tests and wellbeing, as well as weaning from prolonged systemic steroid treatment. Concurrent studies of mutant NRAS-expressing cells showed enhanced lymphangiogenic capacity along with over activation of the RAS-MAPK and PI3K-AKT-mTOR pathways, both reversed by trametinib.ConclusionsTrametinib treatment can substantially change the prognosis of patients with RAS pathway associated lymphatic anomalies.ImpactThis is the first description of successful trametinib treatment of a patient with KLA harboring the most characteristic NRAS p.Q61R mutation. Treatment can significantly change the prognosis of patients with RAS pathway-associated lymphatic anomalies. We devised an in vitro model of KLA enabling a reproducible method for the continued study of disease pathogenesis. Mutated NRAS p.Q61R cells demonstrated increased lymphangiogenic capacity.

Dataset Information

Kaposiform lymphangiomatosis and kaposiform hemangioendothelioma: similarities and differences.

Background

Methods

Results

Conclusions

Publications

Kaposiform lymphangiomatosis and kaposiform hemangioendothelioma: similarities and differences.

Similar Datasets

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