Using a Family History Questionnaire to Identify Adult Patients with Increased Genetic Risk for Sarcoma

Schiavi, Alicia; Lavigne, J; Turcotte, Robert; Kasprzak, Lidia; Dumas, Nadine; Chong, George; Freeman, Carolyn R.; Alameldin, Mona; Galiatsatos, Polymnia; Palma, Laura; Foulkes, William D.

doi:10.3747/co.22.2588

Cited by 18 publications

(14 citation statements)

References 15 publications

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“…Lung cancer and breast cancer are commonly reported as types of family cancer associated with sarcoma in previous reports [23,55]. However, in our study, gastric cancer was the most common type of family cancer in both bone and soft tissue sarcoma (Table 6B, 9).…”

Section: Discussioncontrasting

confidence: 44%

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Smoking and Family Cancer History Are Associated With Sarcomas in A Japanese Population Study

Araki

Yamamoto

Tanzawa

et al. 2020

Preprint

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Background: Sarcoma is a rare cancer, and it is also the cause of the development of various kinds of sarcomas, such as gene abnormalities, which has recently becoming evident due to advances of genetic testing. The approach to solve the origin of diseases is essential to elucidate both the external environmental factors and the internal genetic factors. However, the lifestyle habits, lifestyle-related diseases, personal and family cancer history of sarcoma patients remain unclear.Methods: A total of 1320 sarcoma patients were enrolled in this study. A questionnaire on lifestyle habits, life-style diseases, and the patient’s personal and family cancer history was completed at presentation. A total of 1320 controls were selected by propensity score matching for age and gender. Smoking, drinking, obesity, hypertension, dyslipidemia and diabetes mellitus were compared. In addition, we investigated the incidence of a personal and family cancer history in sarcoma patients. Results: A smoking habit was the only independent risk factor for high-grade soft tissue sarcoma development in adults ≥20 years old (n=952), excluding low-grade and intermediate malignant soft tissue tumors (Odds ratio [OR], 2.45; 95% confidence interval [CI] 1.88-3.20, p<0.001). The ORs of high-grade liposarcoma and undifferentiated pleomorphic sarcoma (UPS) were 2.56 and 3.00, respectively. Eight percent of sarcoma patients had a personal history of another cancer. Thirty percent of soft tissue sarcoma patients had a family history of cancer in a first-degree relatives (malignant peripheral nerve sheath tumor, 52%; leiomyosarcoma, 46%). Conclusions: We confirmed that a smoking habit were associated with the development of high-grade soft tissue sarcomas. A family history of cancer might be associated with certain soft tissue sarcomas, but a further investigation will be necessary.

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Section: Discussioncontrasting

confidence: 44%

“…Some sarcoma patients had a family history of cancer [23,54,55]. McDu e et al stated that 37% (133/357) of soft tissue sarcoma patients had a rst-degree relative with a history of cancer [54].…”

Section: Discussionmentioning

confidence: 99%

Smoking and Family Cancer History Are Associated With Sarcomas in A Japanese Population Study

Araki

Yamamoto

Tanzawa

et al. 2020

Preprint

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“…Several different conditions may be involved, such as neurofibromatosis (NF1), mutations in the RB gene a1111111111 a1111111111 a1111111111 a1111111111 a1111111111 (retinoblastoma) and Li-Fraumeni syndrome (LFS, involving mutation of the TP53 gene). Sarcoma has been known to be involved in LFS since the first description in 1969 [5] and remains in all subsequent categorizations, denoting its importance in that context [6].…”

Section: Introductionmentioning

confidence: 99%

The Brazilian TP53 mutation (R337H) and sarcomas

et al. 2020

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Sarcomas represent less than 1% of all solid neoplasms in adults and over 20% in children. Their etiology is unclear, but genetic susceptibility plays an important role in this scenario. Sarcoma is central in Li-Fraumeni Syndrome (LFS), a familial predisposition cancer syndrome. In Brazil, the high prevalence of p.Arg337His mutations in the TP53 gene brings about a unique condition: a cluster of LFS. In the present work, we studied 502 sarcoma patients not selected by age or family history in an attempt to assess the impact of the socalled "Brazilian germline TP53 mutation" (p.Arg337His) on this tumor type. We found that 8% of patients are carriers, with leiomyosarcoma being the main histologic type of sarcoma, corresponding to 52.5% of the patients with the mutated TP53 gene. These findings emphasize the importance of genetic counseling and can better guide the management of sarcoma patients.The Brazilian TP53 mutation (R337H) and sarcomas PLOS ONE | https://doi.

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“…The literature review led to the identification of 22 studies of interest [ 6 , 7 , 8 , 9 , 11 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 ], reporting on 43 cases of sarcoma associated with LS ( Table 2 and Table 3 ). Most tumors in these cases showed negative expression of MSH2 or MSH2/MSH6 ( n = 19) on IHC analysis.…”

Section: Resultsmentioning

confidence: 99%

Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic Variants

Carvalho

Niitsuma

Kozak

et al. 2020

Cancers

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Lynch syndrome (LS) is a hereditary cancer-predisposing syndrome associated most frequently with epithelial tumors, particularly colorectal (CRC) and endometrial carcinomas (EC). The aim of this study was to investigate the relationship between sarcomas and LS by performing clinical and molecular characterization of patients presenting co-occurrence of sarcomas and tumors from the LS spectrum. We identified 27 patients diagnosed with CRC, EC, and other LS-associated tumors who had sarcomas in the same individuals or families. Germline genetic testing, mismatch repair (MMR) protein immunohistochemistry, microsatellite instability (MSI), and other molecular analyses were performed. Five LS patients presenting personal or family history of sarcomas were identified (3 MSH2 carriers and 2 MLH1), with 2 having Muir–Torre phenotypes. For two MSH2 carriers we confirmed the etiology of the sarcomas (one liposarcoma and two osteosarcomas) as LS-related, since the tumors were MSH2/MSH6-deficient, MSI-high, or presented a truncated MSH2 transcript. Additionally, we reviewed 43 previous reports of sarcomas in patients with LS, which revealed a high frequency (58%) of MSH2 alterations. In summary, sarcomas represent a rare clinical manifestation in patients with LS, especially in MSH2 carriers, and the analysis of tumor biological characteristics can be useful for definition of tumor etiology and novel therapeutic options.

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Using a Family History Questionnaire to Identify Adult Patients with Increased Genetic Risk for Sarcoma

Abstract: Background Sarcomas in adults can be associated with hereditary cancer syndromes characterized by early-onset

Cited by 18 publications

References 15 publications

Smoking and Family Cancer History Are Associated With Sarcomas in A Japanese Population Study

Smoking and Family Cancer History Are Associated With Sarcomas in A Japanese Population Study

The Brazilian TP53 mutation (R337H) and sarcomas

Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic Variants

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