Abstract
Osteosarcoma is generally considered a rare and sporadic tumor, however some cases with
genetical predisposition have been confirmed. We report the case of a 15-year-old
adolescent with metastatic osteoblastic osteosarcoma of diaphysis of the right femur with
genetical cancer predisposition syndrome. The girl presented in hospital with symptoms of
right knee swelling, dynamically progressing pain and difficulties in doing daily physical
activities. The patient underwent neoadjuvant chemotherapy followed by osteoblastic
osteosarcoma resection and knee joint endoprosthetic reconstruction treatment, combined
with adjuvant chemotherapy courses, and local therapy of pulmonary metastases, the total
amount of metastatic resected lesions in right lung was 44, on left lung 56. There was no
family history of malignant diseases.
Whole exome sequencing was performed using the Illumina's sequencing-by-synthesis
method, which followed by analysis of the 160 genes of Comprehensive Hereditary Cancer
Panel done by private company.
Pathogenic heterozygous variant c.7630-2A>C in ATM gene was identified. GnomAD
frequency of variant is low (0.001%). The variant c.7630-2A>C affects a splice acceptor site
in intron 51, hence results in skipping of exon 52 and introduction a premature termination
of ATM protein. It has also been described as a pathogenic founder variant in individuals of
Polish descent.
The girl is in remission during last 2 years. This study presents a case of surgical
arthroplastic knee joint treatment manifestation in a pediatric patient with distal femur
metastatic osteoblastic osteosarcoma combined with scheduled chemotherapy courses and
resection of pulmonary metastases in a patient with hereditary cancer
syndrome.Osteosarcoma is generally considered a rare and sporadic tumor, however some
cases with genetical predisposition have been confirmed
genetical predisposition have been confirmed. We report the case of a 15-year-old
adolescent with metastatic osteoblastic osteosarcoma of diaphysis of the right femur with
genetical cancer predisposition syndrome. The girl presented in hospital with symptoms of
right knee swelling, dynamically progressing pain and difficulties in doing daily physical
activities. The patient underwent neoadjuvant chemotherapy followed by osteoblastic
osteosarcoma resection and knee joint endoprosthetic reconstruction treatment, combined
with adjuvant chemotherapy courses, and local therapy of pulmonary metastases, the total
amount of metastatic resected lesions in right lung was 44, on left lung 56. There was no
family history of malignant diseases.
Whole exome sequencing was performed using the Illumina's sequencing-by-synthesis
method, which followed by analysis of the 160 genes of Comprehensive Hereditary Cancer
Panel done by private company.
Pathogenic heterozygous variant c.7630-2A>C in ATM gene was identified. GnomAD
frequency of variant is low (0.001%). The variant c.7630-2A>C affects a splice acceptor site
in intron 51, hence results in skipping of exon 52 and introduction a premature termination
of ATM protein. It has also been described as a pathogenic founder variant in individuals of
Polish descent.
The girl is in remission during last 2 years. This study presents a case of surgical
arthroplastic knee joint treatment manifestation in a pediatric patient with distal femur
metastatic osteoblastic osteosarcoma combined with scheduled chemotherapy courses and
resection of pulmonary metastases in a patient with hereditary cancer
syndrome.Osteosarcoma is generally considered a rare and sporadic tumor, however some
cases with genetical predisposition have been confirmed
Original language | English |
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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 |
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Country/Territory | Sweden |
City | Lund |
Period | 5/05/23 → 8/05/23 |
Internet address |
Keywords*
- ATM gene
- hereditary predisposition
- osteosarcoma
Field of Science*
- 3.2 Clinical medicine
Publication Type*
- 3.4. Other publications in conference proceedings (including local)