Case 2
A 13-year old boy with stage 4 neuroblastoma of right adrenal with
multiple nodal, bone and bone marrow metastases underwent chemotherapy
(HKPHOSG-NB-07 N7 protocol), gross total tumour resection, autologous
cord blood transplantation with VAMP conditioning followed by
immunotherapy (5 cycles of dinutuximab with alternating cycles of
sargramostim and aldesleukin and inter-cycle isotretinoin). Complete
remission was achieved but he had spinal relapse 4.5 years after
treatment presented with cord compression at T5-T9 level warranting
emergency laminectomy and spinal tumour excision. He then received one
cycle of temozolomide and irinotecan followed by adjuvant radiotherapy
30Gy/10Fr to T5-T9 vertebrae and haploidentical transplant with maternal
TCRαβ/CD45RA depleted graft. Total lymphoid irradiation 8Gy, fludarabine
150mg/m2, thiotepa 10mg/kg and melphalan
140mg/m2 were employed as conditioning. Neutrophil and
platelet engrafted on D+10 and D+11 respectively with 99% donor
chimerism in D+30 marrow. Post-transplant course was complicated with
severe acute GVHD involving skin (grade 2-3), liver (grade 2,
biopsy-proven) and gut (grade 4) requiring prolonged and heavy
immunosuppression including prednisolone, cyclosporine, and
mycophenolate mofetil. He also suffered from disseminated Nocardia
infection complicated with left lower lobe necrotizing pneumonia,
parapneumonic effusion, hydropneumothorax and bronchopleural fistula
requiring prolonged course of antimicrobials including meropenem,
levofloxacin, ceftriaxone, cotrimoxazole, linezolid and amikacin. Due to
liver GVHD, patient had grossly deranged liver function with peak ALT
720 IU/L, AST 506 IU/L, GGT 1,916 IU/L at 8 months post-transplant. His
worst cholestasis occurred as post-transplant 2 years with total
bilirubin 312 μmol/L and direct bilirubin 270 μmol/L (Figure 1C
and Table 1) . He was noted to have lipemic blood sample (Figure
1D) at post-transplant 2 years and lipid profile done revealed TC 13.6
mmol/L, LDL-C (calculated) 11.4 mmol/L, HDL-C 0.2 mmol/L, non-HDLC 13.4
mmol/L and TG 4.2 mmol/L (Table 1) . Physical exam did not show
any xanthoma. With the clinical context of severe cholestasis, LDL-C was
measured directly and it showed discordance between the measured and
calculated LDL-C values (measured 1.7 mmol/L versus calculated 11.4
mmol/L). Low ApoA (0.52 g/L) and elevated ApoB (1.7 g/L) levels were
revealed. Trace chylomicron band, Lp-X band and faint lipoprotein Y
bands were detected in lipoprotein electrophoresis (Figure 1D) .
Patient had neuroblastoma relapse and is currently undergoing palliative
care.