Diagnosis and tumor response in osteosarcoma and Ewing's sarcoma

Böhling, Tom; Bacchini, Patrizia; Bertoni, Franco; Bjerkehagen, Bodil; Domanski, Henryk A.; Kindblom, Lars‐Gunnar; Meis‐Kindblom, Jeanne M.; Wejde, Johan

doi:10.1080/00016470410001708350

Cited by 4 publications

(1 citation statement)

References 8 publications

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“…Additionally, the subgroup of patients presenting with the multiplets replication pattern of MDM4/ PI3KC 2β genes showed an association with clinical response ( p = 0.045) in all populations and in the group with gain at 1q32.1 (15/128). Thus, patients who had poor treatment response (Huvos grade I, II 31 ;) showed a lower mean (0.29 vs. 1.0) of multiplet signals per cell. This multiplet replication pattern of MDM4/ PI3KC 2β genes showed an association with age ( p = 0.033) in all populations.…”

Section: Resultsmentioning

confidence: 95%

Replication Timing Aberration of KIF14 and MDM4/PI3KC2β Alleles and Aneuploidy as Markers of Chromosomal Instability and Poor Treatment Response in Ewing Family Tumor Patients

Ayala¹,

Martin

Bertuzzo

2023

Glob Med Genet

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Replication timing of allelic gene pairs is strictly regulated according to expression, genome stability, and epigenetic changes, and tumorigenesis may be associated with changes in the allelic replication in various tumors. Our aim was to determine whether such alterations had a prognostic value in Ewing's family tumor (EFT) patients. The KIF14 and MDM4/PI3KC2β and the centromeric satellite sequence of chromosomes 8 and 12 were used for replication timing assessments. Aneuploidy was assessed by enumerating the copy numbers of chromosomes 8 and 12. Replication timing and aneuploidy were detected cytogenetically using multicolors fluorescence in situ hybridization assay applied in 135 EFT. Patients with trisomy 8 presented an association with an asynchronous replication pattern (SD) of MDM4/PI3KC2β genes (p = 0.013). Trisomy 12 was associated with a synchronous pattern (DD) of KIF14 probe signals (p = 0.04). The DD synchronous replication pattern of KIF14 showed a correlation with age (p < 0.0001), and the SS synchronous replication pattern of the same locus showed a correlation with lung metastatic (p = 0.012). The subgroup of patients presenting with multiplet signals of MDM4/PI3KC2β showed an association with treatment response (p = 0.045) and age (p = 0.033). Replication pattern of KIF14 may, significantly, be associated with chromosomal instability as MDM4/PI3KC2β may be a considerably new marker of poor treatment response in EFT patients.

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Section: Resultsmentioning

confidence: 95%

Replication Timing Aberration of KIF14 and MDM4/PI3KC2β Alleles and Aneuploidy as Markers of Chromosomal Instability and Poor Treatment Response in Ewing Family Tumor Patients

Ayala¹,

Martin

Bertuzzo

2023

Glob Med Genet

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Osteosarcoma

Bauer¹

2006

TNM Online

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Primary bone tumors are rare with an incidence of 2 to 3 per million, and of these, high‐grade osteosarcoma is the most common, representing 35% of all bone sarcomas. The typical patient diagnosed with osteosarcoma is male, between the ages of 10 and 20 years, and complains of pain for one to three months. The tumor is most commonly at the metaphysis of a long bone, with a predilection to the knee region. Dramatic improvements in disease‐free (DFS) and overall survival (OS) were demonstrated with the advent of doxorubicin and methotrexate chemotherapy regimes. The current standard of treatment for the patient with osteosarcoma is chemotherapy and resection of the primary tumor, most commonly preserving the limb. Despite the advances in radiological imaging, chemotherapy and surgery, 40 to 50% of patients will develop distant metastases and die of their disease. This chapter discusses the prognostic factors of disease outcome for osteosarcoma patients, specifically disease‐ or tumor‐related factors, host‐related factors, and environment‐ or treatment‐related factors.

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