Table 1 Characteristics of patients before and after 1 year of sirolimus treatment
Sex Age | Type and mutation | Localisation | Previous treatment | Symptoms and laboratory findings | Duration of sirolimus | Improvement | |
|---|---|---|---|---|---|---|---|
#1 | F 11y | Sporadic LM | Cervico-facial with laryngeal extension | Surgery Antibiotherapy | - Physical deformation - Speech trouble - Infections (3/6 months) - Poor quality of life | 34 months, stopped with non-EBV lymphoma diagnosis | - Physical improvement - Functional improvement (speech) - Reduction of Infection - Quality of life moderately improved - Malformation reduction on MRI - Not evaluable with ITK-SNAP3–0 |
#2 | F 16y | Sporadic LM Somatic PIK3CA mutation | Retro-orbitary and nose ala | Surgery Sclerotherapy Antibiotherapy | - Physical deformation - Eye opening difficulty - Continuous pain (VAS 5) with painful crisis (1–2 weekly) - Infections (1x/3 months) - Poor quality of life | 13 months, stopped due to possibility for sclerotherapy | - Physical improvement - Functional improvement (eye opening) - Reduction of pain (VAS 4) and painful crisis - No infection within 13 months - Quality of life moderately improved - No malformation reduction on MRI - 0.6 cm3 (6.7%) volume reduction on ITK-SNAP3–0 |
#3 | M 3y | Sporadic LM | Cervico-facial with parotid and tongue invasion | Surgery Antibiotherapy | - Physical deformation (tongue enlargement) - Speech and mastication trouble - Infections (1x/3 month) - Poor quality of life | 28 months, ongoing | - Physical improvement - Functional improvement (speech and mastication) - No infection within 28 months - Quality of life strongly improved - Malformation reduction on MRI - 4 cm3 (2%) volume reduction on ITK-SNAP3–0 |
#4 | F 8y | Sporadic LM | Right lower limb, buttock, pelvis, abdomen | Surgery Sclerotherapy Antibiotherapy | - Physical deformation (limb enlargement) - Walking, sitting and standing trouble - Continuous pain (VAS 5) with painful crisis at defecation - Daily rectal oozing - Infections (1x/2 months) - Poor quality of life | 15 months, ongoing | - Functional improvement (walking and standing) - Reduction of pain (VAS 1) - Disappearance of rectal oozing - No infection within 15 months - Quality of life strongly improved - Radiological progression on MRI - Not evaluable with ITK-SNAP3–0 |
#5 | M 5y | Sporadic LM | Diffuse, pulmonary, splenic, vertebral | Antibiotherapy | - Respiratory insufficiency (continuous oxygenotherapy) - Daily hemoptysis - Infections (1x/month) - Altered growth - Poor quality of life | 41 months, ongoing | - Functional improvement (decreased oxygen-dependency) - Reduction of hemoptysis - Reduction of infection (2x/year) - Quality of life moderately improved - No size reduction on MRI - Not evaluable with ITK-SNAP3–0 |
#6 | F 10y | Sporadic LM Somatic PIK3CA mutation | Right lower limb, buttock, pelvis, abdomen | Surgery Sclerotherapy Antibiotherapy | - Physical deformation (right foot enlargement) - Walking, sitting and standing trouble - Continuous pain (VAS 6) with painful crisis (5–10/month) - Infections (1x/2 months) - Poor quality of life | 32 months, ongoing | - Physical improvement - Functional improvement (walking, sitting and standing) - Reduction of pain (VAS 1) - Reduction of infections (2x/year) - Quality of life strongly improved - Size reduction on MRI - Not evaluable with ITK-SNAP3–0 |
#7 | M 4y | GLA PIK3CA mutation | Right lower limb, lower back, abdomen, buttock | LMWH Antibiotherapy | - Physical deformation (limb enlargement) - Walking and standing difficulties - Infection (1x/2 month) - Poor quality of life | 48 months, ongoing | - Physical improvement - Functional improvement (walking and standing) - Reduction of infection (2x/year) - Quality of life strongly improved - Radiological progression on MRI - Not evaluable with ITK-SNAP3–0 |
#8 | F 9y | GLA TIE2 mutation | Left lower limb, buttock, bones, uterine, pelvis, abdomen | LMWH Antibiotherapy | - Physical deformation (limb enlargement) - Sitting and walking difficulties - Continuous pain (VAS 7) with painful crisis (1–5/month) - Daily gynecological oozing - Infections (1x/month) - Poor quality of life | 44 months, ongoing | - Physical improvement - Functional improvement (sitting and walking) - Disappearance of pain (VAS 0) - Disappearance of gynaecological oozing - Disappearance of infection - Quality of life strongly improved - Malformation reduction on MRI - 120 cm3 (7.6%) volume reduction on ITK-SNAP3–0 |
#9 | F 64y | Sporadic VM Somatic PIK3CA mutation | Left lower limb, buttock, perineum, colon, spleen, liver, vagina | Surgery LMWH Elastic contention | - Physical deformation (limb enlargement) - Dressing, standing and walking trouble - Continuous pain (VAS 10) with painful crisis (10–20/month) - Daily gynaecological bleeding - Poor quality of life - Elevated D-dimer levels (5524 ng/ml) - Low fibrinogen levels (127 mg/dl) | 35 months, ongoing | - Physical improvement - Functional improvement (dressing and walking) - Disappearance of gynaecological bleeding - Reduction of pain (VAS 5) - Quality of life strongly improved - No malformation reduction on MRI - 118 cm3 (17.2%) volume reduction on ITK-SNAP3–0 - Decreased D-dimer levels (1799 ng/ml) - Fibrinogen levels normalization (254 mg/dl) |
#10 | F 20y | Sporadic VM Somatic TIE2 mutation | Left upper limb | Surgery Sclerotherapy LMWH Elastic contention | - Left upper limb mobilisation difficulties - Continuous pain (VAS 7) and painful crisis (5–10/month) - Poor quality of life - Elevated D-dimer levels (1200 ng/ml) - Normal fibrinogen levels (274 mg/dl) | 1 month, stopped for grade 3 mucositis | - No functional improvement - No pain reduction - No quality of life improvement |
#11 | M 18y | Sporadic VM Somatic TIE2 mutation | Right upper limb | Surgery Sclerotherapy LMWH Elastic contention | - Physical deformation (Right hand deformed) - Wrist and thumb mobility difficulties - Continuous pain (VAS 3) with daily painful crisis - Poor quality of life - Elevated D-dimer levels (2766 ng/ml) - Normal fibrinogen levels (235 mg/dl) | 2 months, stopped for grade 3 mucositis | - Functional improvement (wrist and thumb mobilisation) - Reduction of pain (VAS 2) and painful crisis (1-2x/week) - Quality of life strongly improved |
#12 | M 54y | Sporadic VM Somatic TIE2 mutation | Right lower limb, buttock, lower back | Surgery Sclerotherapy LMWH Elastic contention | - Physical deformation (buttock asymmetry) - Sitting, standing and walking difficulties - Continuous pain (VAS 3) with painful crisis (5–10/month) - Poor quality of life - Elevated D-dimer levels (3174 ng/ml) - Normal fibrinogen levels (307 mg/dl) | 48 months, ongoing | - Physical improvement - Functional improvement (walking, sitting position, no need for elastic contention) - Reduction of pain (VAS 1) - Quality of life strongly improved - No malformation reduction on MRI - 40 cm3 (2.4%) volume reduction on ITK-SNAP3–0 - - Decreased D-dimer levels (1908 ng/ml) |
#13 | F 19y | Multifocal sporadic VM Somatic TIE2 mutation | Thorax, back, 4 limb | Surgery Sclerotherapy LMWH Elastic contention | - Muscular weakness, difficulties in walking, writing, doing sport - Continuous pain (VAS 8) with painful crisis (1–5/month) - Poor quality of life, severe mood alteration - Elevated D-dimer levels (7587 ng/ml) - Normal fibrinogen levels (319 mg/dl) | 28 months, ongoing | - Functional improvement (walking and writing) - Reduction of pain (VAS 5) - Quality of life moderately improved - Radiological progression on MRI - 0.1 cm3 (0.5%) volume reduction on ITK-SNAP3–0 - Decreased D-dimer levels (1048 ng/ml) |
#14 | M 39y | Sporadic VM Somatic TIE2 mutation | Left parieto-temporal region | Surgery LMWH | - Continuous pain (VAS 8) and frequent headache - Poor quality of life, severe mood alteration - Normal D-dimer levels (330 ng/ml) - Normal fibrinogen levels (382 mg/dl) | 1 month, stopped spontaneously | Patient not evaluable |
#15 | F 23y | Sporadic VM Somatic PIK3CA mutation | Right ankle | Surgery Sclerotherapy LMWH Antalgic Elastic contention | - Physical deformation (Ankle enlargement) - Ankle mobility and walking difficulties - Continuous pain (VAS 7) with painful crisis (1–5/month) - Poor quality of life - Elevated D-dimer levels (1350 ng/ml) - Normal fibrinogen levels (315 mg/dl) | 32 months, ongoing | - Physical improvement - Functional improvement (walking improvement, no need for elastic contention) - Reduction of pain (VAS 2) - Quality of life strongly improved - Malformation reduction on MRI - 1.7 cm3 (12.1%) volume reduction on ITK-SNAP3–0 - D-dimer levels normalization (460 ng/ml) |
#16 | F 9y | CVM No TIE2 mutation | Pelvis, uterine and rectal extension | LMWH Exacyl Transfusion | - Physical deformation - Sitting, standing and walking troubles - Daily rectorrhagia - Poor quality of life - Elevated D-dimer levels (1292 ng/ml) - Normal fibrinogen levels (356 mg/dl) | 13 months, ongoing | - Functional improvement - Decreased rectal bleeding intensity - Decrease transfusions - Quality of life strongly improved - Malformation reduction on MRI - 37.2 cm3 (34.5%) volume reduction on ITK-SNAP3–0 - Decreased D-dimer levels (968 ng/ml) |
#17 | F 14y | KTS Somatic PIK3CA mutation | Right thigh, buttock, abdomen, vagina | Surgery Sclerotherapy Antalgic Antibiotherapy | - Physical deformation (thigh enlargement and abdomen asymmetry) - Muscle weakness, sitting and walking trouble - Gynaecological bleeding (2x/week) - Daily abdominal oozing - Infections (1x/3 month) - Poor quality of life - Elevated D-dimer levels (1685 ng/ml) - Normal fibrinogen levels (371 mg/dl) | 26 months, stopped for surgery eligibility | - Physical improvement (thigh volume reduction and improved coloration) - Functional improvement (disappearance of mobility trouble) - Reduction of bleeding - Disappearance of oozing - Disappearance of infections - Quality of life moderately improved - Malformation reduction on MRI - 68 cm3 (18.8%) volume reduction on ITK-SNAP3–0 - Decreased D-dimer levels (800 ng/ml) |
#18 | F 30y | KTS No TIE2 or PIK3CA mutation | 4 limbs, trunk | Surgery LMWH Antibiotherapy Elastic contention | - Physical deformation (left hemi-body hypertrophy) - Continuous pain (VAS 6) with painful crisis (> 20/month) - Daily oozing - Infections (1x/3 month) - Poor quality of life - Elevated D-dimer levels (5609 ng/ml) - Normal fibrinogen levels (414 mg/dl) | 16 months, stopped due to pain reappearance | - Reduction of pain (VAS 2) - Reduction of oozing - Reduction of infections - Quality of life moderately improved - No malformation reduction on MRI - Not evaluable with ITK-SNAP3–0 - Decreased D-dimer levels (951 ng/ml) |
#19 | M 16y | PHTS Mutation in PTEN | Right upper limb, shoulder | Sclerotherapy | - Physical deformation - Mobility difficulty - Continuous Pain (VAS 4) with painful crisis (1 monthly) - Poor quality of life - Elevated D-dimer levels (889 ng/ml) - Normal fibrinogen levels (410 mg/dl) | 13 months, ongoing | - Physical improvement - Functional improvement (mobility) - Disappearance of pain (VAS 0) - Quality of life strongly improved - No malformation reduction on MRI - Not evaluable with ITK-SNAP3–0 - D-dimer levels normalization (459 ng/ml) |