Abstract
3 years 6 months old girl (11.3 kg, 91 cm) with previously diagnosed Fanconi anemia
developed metastatic neuroblastoma in July 2022. The girl was born in term with birth
weight 2 400 g and congenital hypothyreosis,visible multiple cafe-au-lait spots at spine and
gluteus, clinodactyly, referred to gastroenterologist due to poor weight and height gain
(both -3 SD) in the age of 1 year 3 months, genetical investigation was started. The
diagnosis of Fanconi anaemia was confirmed with compound heterozygous condition
(BRCA2 c658_659del, p.(Val220Ilefs*4 and BRCA2 c.5268dup, p.(Asn 1747*).
In July 2022 high grade fever started followed by pain in both knees and abdomen, the child
refused to walk, osteomyelitis was suspected, MRI performed, and multiple diffuse lesions in
both femoral and pelvic bones were described, trephine biopsy results showed
neuroblastoma cells in bone marrow. Femoral bone biopsy supported undifferentiated
neuroblastoma metastases in bones. Abdominal MRI discovered neuroblastoma of left
adrenal gland with multiple metastasis in bones, bone marrow, paraaortal lymphnodes.
Tumor tissues showed 1p deletion, 11q deletion, 3p deletion, 2p gain, 17q gain. MYCN was
negative, but MYCN amp-SCA+ was found.The treatment according COJEC courses was
started , reducing dosage by 30%. Despite dosage reduction the girl demonstrated
prominent myelotoxicity, several infections , typhlitis and Cl.difficile infection during first 5
courses of chemotherapy. After 3 courses of chemotherapy the abdominal lesion was
decreased in size, infiltration in bone marrow disappeared, bone lesions persisted.
Infiltration with neuroblastoma cells appeared again in bone marrow biopsies in December
2022. Due to refractory disease the therapy with dinutuximab was started in January 2023,
with good tolerability
developed metastatic neuroblastoma in July 2022. The girl was born in term with birth
weight 2 400 g and congenital hypothyreosis,visible multiple cafe-au-lait spots at spine and
gluteus, clinodactyly, referred to gastroenterologist due to poor weight and height gain
(both -3 SD) in the age of 1 year 3 months, genetical investigation was started. The
diagnosis of Fanconi anaemia was confirmed with compound heterozygous condition
(BRCA2 c658_659del, p.(Val220Ilefs*4 and BRCA2 c.5268dup, p.(Asn 1747*).
In July 2022 high grade fever started followed by pain in both knees and abdomen, the child
refused to walk, osteomyelitis was suspected, MRI performed, and multiple diffuse lesions in
both femoral and pelvic bones were described, trephine biopsy results showed
neuroblastoma cells in bone marrow. Femoral bone biopsy supported undifferentiated
neuroblastoma metastases in bones. Abdominal MRI discovered neuroblastoma of left
adrenal gland with multiple metastasis in bones, bone marrow, paraaortal lymphnodes.
Tumor tissues showed 1p deletion, 11q deletion, 3p deletion, 2p gain, 17q gain. MYCN was
negative, but MYCN amp-SCA+ was found.The treatment according COJEC courses was
started , reducing dosage by 30%. Despite dosage reduction the girl demonstrated
prominent myelotoxicity, several infections , typhlitis and Cl.difficile infection during first 5
courses of chemotherapy. After 3 courses of chemotherapy the abdominal lesion was
decreased in size, infiltration in bone marrow disappeared, bone lesions persisted.
Infiltration with neuroblastoma cells appeared again in bone marrow biopsies in December
2022. Due to refractory disease the therapy with dinutuximab was started in January 2023,
with good tolerability
| Original language | English |
|---|---|
| Number of pages | 1 |
| Publication status | Published - 5 May 2023 |
| Externally published | Yes |
| Event | NOPHO annual congress - Lund, Sweden Duration: 5 May 2023 → 8 May 2023 https://www.nopho.net/lund-2023/ |
Congress
| Congress | NOPHO annual congress |
|---|---|
| Country/Territory | Sweden |
| City | Lund |
| Period | 5/05/23 → 8/05/23 |
| Internet address |
Keywords*
- Fanconi anaemia
- dinutuximab
- neuroblastoma
Field of Science*
- 3.2 Clinical medicine
Publication Type*
- 3.4. Other publications in conference proceedings (including local)