Correlation between oncological family history and clinical outcome in a large monocentric cohort of pediatric patients with rhabdomyosarcoma.
Early-onset tumors
Genetic cancer syndromes
Genetic counseling
Oncological family history
Rhabdomyosarcoma
Journal
International journal of clinical oncology
ISSN: 1437-7772
Titre abrégé: Int J Clin Oncol
Pays: Japan
ID NLM: 9616295
Informations de publication
Date de publication:
Aug 2021
Aug 2021
Historique:
received:
18
01
2021
accepted:
08
05
2021
pubmed:
3
6
2021
medline:
3
6
2021
entrez:
2
6
2021
Statut:
ppublish
Résumé
Rhabdomyosarcoma (RMS), an aggressive soft tissue sarcoma of the skeletal muscle generally affecting children and adolescents, shows extensive heterogeneity in histology, site and age of onset, clinical course, and prognosis. Tumorigenesis of RMS is multifactorial and genetic predisposition together with the family history of cancer may provide critical information to enhance the current knowledge and foster genetic counseling and testing. In our study, we evaluated the possible correlation of oncological family history with clinical outcomes in a cohort of RMS 512 patients and treated at the Pediatric Oncology Unit of our Institute. Family history was retrospectively collected from the specific ad hoc form available in medical records and filled in through an interview with the patients' parents at the time of RMS diagnosis. While our series did not show a specific association between oncological family history and clinical variables, we observed an association with survival probabilities: among patients with a history of cancer-affected first-degree relatives at the time of the diagnosis, all children with alveolar RMS (ARMS) died of disease. Our study not only reports an interesting and not previously described association between a poor clinical outcome and ARMS in patients with young cancer-affected relatives, but also stimulates the discussion on oncological family history in RMS, to improve the clinical management of these young patients and their families.
Sections du résumé
BACKGROUND
BACKGROUND
Rhabdomyosarcoma (RMS), an aggressive soft tissue sarcoma of the skeletal muscle generally affecting children and adolescents, shows extensive heterogeneity in histology, site and age of onset, clinical course, and prognosis. Tumorigenesis of RMS is multifactorial and genetic predisposition together with the family history of cancer may provide critical information to enhance the current knowledge and foster genetic counseling and testing.
METHODS
METHODS
In our study, we evaluated the possible correlation of oncological family history with clinical outcomes in a cohort of RMS 512 patients and treated at the Pediatric Oncology Unit of our Institute. Family history was retrospectively collected from the specific ad hoc form available in medical records and filled in through an interview with the patients' parents at the time of RMS diagnosis.
RESULTS
RESULTS
While our series did not show a specific association between oncological family history and clinical variables, we observed an association with survival probabilities: among patients with a history of cancer-affected first-degree relatives at the time of the diagnosis, all children with alveolar RMS (ARMS) died of disease.
CONCLUSION
CONCLUSIONS
Our study not only reports an interesting and not previously described association between a poor clinical outcome and ARMS in patients with young cancer-affected relatives, but also stimulates the discussion on oncological family history in RMS, to improve the clinical management of these young patients and their families.
Identifiants
pubmed: 34075482
doi: 10.1007/s10147-021-01934-8
pii: 10.1007/s10147-021-01934-8
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1561-1568Informations de copyright
© 2021. Japan Society of Clinical Oncology.
Références
Ferrari A, Brecht IB, Gatta G et al (2019) Defining and listing very rare cancers of paediatric age: consensus of the joint action on rare cancers in cooperation with the European Cooperative Study Group for pediatric rare tumors. Eur J Cancer 110:120–126
doi: 10.1016/j.ejca.2018.12.031
Ferrari A, Trama A, De PA et al (2017) Access to clinical trials for adolescents with soft tissue sarcomas: enrollment in European pediatric soft tissue sarcoma study group (EpSSG) protocols. Pediatr Blood Cancer 64(6). https://doi.org/10.1002/pbc.26348
Skapek SX, Ferrari A, Gupta AA et al (2019) Rhabdomyosarcoma. Nat Rev Dis Primers 5:1
doi: 10.1038/s41572-018-0051-2
Schwartzbaum JA, George SL, Pratt CB et al (1991) An exploratory study of environmental and medical factors potentially related to childhood cancer. Med Pediatr Oncol 19:115–121
doi: 10.1002/mpo.2950190209
Kuhlen M, Taeubner J, Brozou T et al (2019) Family-based germline sequencing in children with cancer. Oncogene 38:1367–1380
doi: 10.1038/s41388-018-0520-9
Lupo PJ, Danysh HE, Skapek SX et al (2014) Maternal and birth characteristics and childhood rhabdomyosarcoma: a report from the Children’s Oncology Group. Cancer Causes Control 25:905–913
doi: 10.1007/s10552-014-0390-6
Lupo PJ, Danysh HE, Plon SE et al (2015) Family history of cancer and childhood rhabdomyosarcoma: a report from the Children’s Oncology Group and the Utah population database. Cancer Med 4:781–790
doi: 10.1002/cam4.448
Lupo PJ, Luna-Gierke RE, Chambers TM et al (2020) Perinatal and familial risk factors for soft tissue sarcomas in childhood through young adulthood: a population-based assessment in 4 million live births. Int J Cancer 146:791–802
doi: 10.1002/ijc.32335
Farid M, Ngeow J (2016) Sarcomas associated with genetic cancer predisposition syndromes: a review. Oncologist 21:1002–1013
doi: 10.1634/theoncologist.2016-0079
Li H, Sisoudiya SD, Martin-Giacalone BA et al (2020) Germline cancer-predisposition variants in pediatric rhabdomyosarcoma: a report from the Children’s Oncology Group. J Natl Cancer Inst. https://doi.org/10.1093/jnci/djaa204
Diller L, Sexsmith E, Gottlieb A et al (1995) Germline p53 mutations are frequently detected in young children with rhabdomyosarcoma. J Clin Invest 95:1606–1611
doi: 10.1172/JCI117834
Hettmer S, Archer NM, Somers GR et al (2014) Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers. Cancer 120:1068–1075
doi: 10.1002/cncr.28507
Pondrom M, Bougeard G, Karanian M et al (2020) Rhabdomyosarcoma associated with germline TP53 alteration in children and adolescents: the French experience. Pediatr Blood Cancer 67(9):e28486. https://doi.org/10.1002/pbc.28486
doi: 10.1002/pbc.28486
pubmed: 32658383
Stewart DR, Best AF, Williams GM et al (2019) Neoplasm risk among individuals with a pathogenic germline variant in DICER1. J Clin Oncol 37:668–676
doi: 10.1200/JCO.2018.78.4678
McCluggage WG, Apellaniz-Ruiz M, Chong AL et al (2020) Embryonal rhabdomyosarcoma of the ovary and fallopian tube: rare neoplasms associated with germline and somatic DICER1 mutations. Am J Surg Pathol 44:738–747
doi: 10.1097/PAS.0000000000001442
Crucis A, Richer W, Brugières L et al (2015) Rhabdomyosarcomas in children with neurofibromatosis type I: a national historical cohort. Pediatr Blood Cancer 62:1733–1738
doi: 10.1002/pbc.25556
Jongmans MC, Hoogerbrugge PM, Hilkens L et al (2010) Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma. Genes Chromosom Cancer 49:635–641
doi: 10.1002/gcc.20773
Denayer E, Devriendt K, de Ravel T et al (2010) Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. Genes Chromosom Cancer 49:242–252
pubmed: 19953625
Gripp KW (2005) Tumor predisposition in Costello syndrome. Am J Med Genet C Semin Med Genet 137C:72–77
doi: 10.1002/ajmg.c.30065
Cohen MM Jr (2005) Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives. Pediatr Dev Pathol 8:287–304
doi: 10.1007/s10024-005-1154-9
Infante-Rivard C, Guiguet M (2004) Family history of hematopoietic and other cancers in children with acute lymphoblastic leukemia. Cancer Detect Prev 28:83–87
doi: 10.1016/j.cdp.2003.12.003
Poynter JN, Amatruda JF, Ross JA (2010) Trends in incidence and survival of pediatric and adolescent patients with germ cell tumors in the United States, 1975 to 2006. Cancer 116:4882–4891
doi: 10.1002/cncr.25454
Rudant J, Menegaux F, Leverger G et al (2007) Family history of cancer in children with acute leukemia, Hodgkin’s lymphoma or non-Hodgkin’s lymphoma: the ESCALE study (SFCE). Int J Cancer 121:119–126
doi: 10.1002/ijc.22624
Del Risco KR, Blaasaas KG, Claussen B et al (2018) Family history of cancer and the risk of childhood solid tumours: a Norwegian nationwide register-based cohort study. Br. J Cancer 118:905–912
doi: 10.1038/bjc.2017.493
d’Egurbide Bagazgoïtia NV, Bailey HD, Orsi L et al (2019) Family history of cancer and the risk of childhood brain tumors: a pooled analysis of the ESCALE and ESTELLE studies (SFCE). Cancer Causes Control 30:1075–1085
doi: 10.1007/s10552-019-01214-x
Airewele G, Adatto P, Cunningham J, Mastromarino C, Spencer C, Sharp M, Sigurdson A, Bondy M (1998) Family history of cancer in patients with glioma: a validation study of accuracy. J Natl Cancer Inst 90:543–544
doi: 10.1093/jnci/90.7.543
Murff HJ, Byrne D, Syngal S (2004) Cancer risk assessment: quality and impact of the family history interview. Am J Prev Med 27:239–245
pubmed: 15450637
Murff HJ, Spigel DR, Syngal S (2004) Does this patient have a family history of cancer? An evidence-based analysis of the accuracy of family cancer history. JAMA 292:1480–1489
doi: 10.1001/jama.292.12.1480
Tehranifar P, Wu HC, Shriver T et al (2015) Validation of family cancer history data in high-risk families: the influence of cancer site, ethnicity, kinship degree, and multiple family reporters. Am J Epidemiol 181:204–212
doi: 10.1093/aje/kwu258
Zecca M, Ferrari A, Quarello P et al (2021) Childhood cancer in Italy: background, goals, and achievements of the Italian Paediatric Hematology Oncology Association (AIEOP). Tumori. https://doi.org/10.1177/03008916211007934