CLOVES syndrome is a rare congenital overgrowth disorder caused by mutations in the phosphatidylinositol 3-kinase catalytic subunit alpha (PIK3CA) gene. It is part of the PIK3CA-related overgrowth syndrome (PROS) spectrum and its treatment is challenging. PROS malformations have traditionally been treated by surgery, but research into pharmacological treatments capable of blocking the PIK/AKT/mTOR pathway has increased over the past decade. The results have been promising and suggest that compassionate use of these treatments in patients with PROS disorders could have clinical benefits. Another promising drug is alpelisib (BYL719), which is a selective inhibitor that competitively binds to the p110a subunit of PIK3 in the intracellular PI3K/AKT signalling pathway. Compassionate use of low-dose alpelisib had striking effects in an uncontrolled case series of 19 PROS patients, several with lifethreatening complications. Moreover, there were few adverse effects and the treatment did not impair linear growth, despite the young age of many of the patients.We present the case of a patient with CLOVES syndrome who was started on compassionate treatment with alpelisib after surgical debulking of a cystic lymphangioma and treatment with sirolimus. This promising drug significantly reduced the size of the lymphangioma and prevented progression of the tissue overgrowth in the gluteal region. This case suggests that low-dose PI3K inhibition may provide collateral benefits that extend beyond mitigation of disease-specific features of PROS.

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BackgroundPeripheral blood stem cell transplantation (PBSCT) has reduced morbidity and mortality and it is probably one of the most important of the autologous transplantations.PurposeThe objective is to describe the complications (neutropenic fever and mucositis) and progress observed in haematological patients undergoing a PBSCT.Material and methodsObservational, descriptive and retrospective study carried out during 2013 in a 500-bed university hospital. All patients undergoing a PBSCT were included in the study.Two different groups were established, depending on the conditioning regime administered, depending on the usual clinical practice.Group A: Patients treated with BCNU, etoposide and cytosine arabinoside and melphalan (BEAM)Group B: Patients treated with melphalanData collected included: sex, age, types of conditioning regimen, NF and mucositis during the bone marrow aplasia phase, as well as the patients’ situation three months after the PBSCT.ResultsDuring the bone marrow aplasia phase patients presented neutropenic fever and mucositis (Table 1).Three months after the PBSCT, nine patients in group A presented a complete response, two patients partial response, and one patient success. In group B, ten patients presented complete response and one patient partial response.Abstract CP-131 Table 1Number of patientsGroup ANumber of patientsGroup B1. Neutropenic fever10111.1. No microbiological isolation7101.1.1. Non-persistent571.1.2. Persistent231.2. Microbiological isolation311.2.1. Bacteraemia212. Mucositis1192.1. Required parenteral nutrition74ConclusionMost of the patients undergoing a PBSCT presented neutropenic fever and mucositis. Eight of them required an antimicrobial treatment of high complexity and 11 required parenteral nutritional support.Three months after the PBSCT, the number of complete responses in group B was superior to those in group A.References and/or AcknowledgementsI wish to acknowledge the help provided by the pharmacy members.No conflict of interest.