Osteosarcoma of the sternum after radiotherapy for breast cancer in a patient with suspected hereditary cancer syndrome: a case report

Author(s):  
Gaurav Trivedi ◽  
Sankalp Singh ◽  
Nishant Lohia ◽  
S. Viswanath ◽  
Manoj Prashar ◽  
...  

Abstract Introduction: Radiation-induced malignancies are a rare phenomenon. Post-radiation sarcoma accounts for 0·5–5·5% of all sarcomas. Adjuvant radiotherapy (RT) after surgery plays a significant role in the treatment of breast cancer. Sarcomas of the breast, chest wall, sternum, axilla or supraclavicular region have been reported as a rare complication of RT for breast cancer. Osteosarcoma (OS) of the sternal bone is a rarely reported entity. OS of the sternum secondary to therapeutic ionising radiation is an even rarer diagnosis, and no such cases have been reported in India as per our literature search. Here we report such a case of post-radiation sarcoma after breast cancer treatment—OS presenting in the sternum and both the second ribs in a young lady. Findings: Our patient developed a sarcoma within a previously irradiated field. The latent period was 7·5 years. She initially suffered from a breast carcinoma for which she underwent radical surgery in the form of modified radical mastectomy. She also received 50 Gy RT dose to the chest wall and axilla. She subsequently developed an OS of chest wall in the high-dose region of RT. Another key factor is the high possibility of familial/hereditary cancer inheritance syndrome like Li-Fraumeni in our patient. Though she was never tested for p53 mutations, her young age at first diagnosis (26 years), extremely strong positive family history and spectra of cancers affecting her first-degree blood relatives (brain tumours, leukaemia) strongly hint at the possibility of such a cancer syndrome. Retrospectively, the question certainly arises, given her young age and family history, whether this patient was a right candidate for RT even once as compared to the fact that she received radiation twice.

2021 ◽  
Vol 39 (6_suppl) ◽  
pp. 225-225
Author(s):  
Adam Schneider ◽  
Nicholas Bowler ◽  
Ryan Fogg ◽  
Joon Yau Leong ◽  
Andrew Gusev ◽  
...  

225 Background: Active surveillance (AS) is the preferred management strategy for men with low-risk prostate cancer. However, approximately one in three men on AS experience progression of disease leading to treatment within 5 years, highlighting an urgent unmet need to reliably distinguish indolent from aggressive prostate cancer and improve patient selection criteria for AS. Germline genetic testing for DNA repair gene mutations is now recommended for patients with newly diagnosed prostate cancer and a strong family history of prostate cancer or BRCA1/2-related cancers, as such mutations have been associated with more aggressive forms of the disease. Here, we investigated the impact of family history on AS outcomes, under the hypothesis that men at high genetic risk for prostate cancer are at greater risk for progression to treatment on AS. Methods: We retrospectively reviewed detailed family history data of 958 patients from our institutional database of men enrolled in AS between 1997-2019. Data on family history of prostate cancer and hereditary cancer syndrome ( BRCA1/2-related prostate, breast, ovarian and/or pancreatic cancers) were collected and integrated into a composite family history score incorporating the number of relatives with each cancer weighted by degree of relatedness. A strong family history was defined as a composite score representing > 1 first-degree relative equivalent. The primary outcome was biopsy progression and secondary outcomes were adverse pathologic features at prostatectomy and biochemical recurrence. Statistical analysis was conducted using the Kaplan-Meier method and Cox proportional hazards regression. Results: In univariate analysis, a strong family history suggestive of a hereditary cancer syndrome (HR 1.37 [1.03-1.90], P = 0.033) was associated with a significant increased risk of biopsy progression; however, any family history of prostate cancer (HR 1.10 [0.89-1.35], P = 0.38) and a strong family history of prostate cancer (HR 1.35 [0.92-1.98], P = 0.13) were not significant. In multivariate analysis, a strong family history suggestive of a hereditary cancer syndrome remained a statistically significant predictor of biopsy progression (HR 1.42 [1.03-1.96], P = 0.03), after adjusting for age, percent core involvement on initial biopsy and PSA density. No significant association was found between family history and adverse features on surgical pathology or biochemical recurrence. Conclusions: A positive family history suggestive of a hereditary cancer syndrome is associated with an increased risk of biopsy progression on AS and is an independent predictor of biopsy progression. Men with such a family history may still be safely offered AS but should be counseled about the higher risk of progression. Further work to investigate the underlying genetic factors responsible for this increased risk is warranted.


2004 ◽  
Vol 18 (1) ◽  
pp. 17-21 ◽  
Author(s):  
Margaret Lilley ◽  
Dawna Gilchrist

OBJECTIVE:Pancreatic cancer is known to aggregate in some families and has been associated with a wide variety of cancer syndromes. The authors describe their experience with pancreatic cancer and the range of associated cancer syndromes.METHODS:The charts of all patients seen for concern of a hereditary cancer syndrome in the Cancer Genetics Clinic at the University of Alberta between 1995 and 2002 were reviewed.RESULTS:Forty families reported a personal or family history of pancreatic cancer in the context of a possible hereditary cancer syndrome. Three additional families reported a history of pancreatitis. Twenty-four (56%) of those families were suspected of having a hereditary breast and ovarian cancer syndrome. A further seven (16%) were suspected of having hereditary nonpolyposis colon cancer. Only three (7%) were believed to be at risk for a site-specific pancreatic cancer syndrome. Another three (7%) were suspicious for hereditary pancreatitis. The remaining family histories were suggestive of Li-Fraumeni syndrome, von Hippel-Lindau syndrome or a nonspecific cancer predisposition.CONCLUSIONS:With such a wide variety of hereditary cancer syndromes associated with pancreatic cancer, an accurate assessment of the family history is essential to determine the most appropriate cancer screening for at-risk family members and to guide any molecular testing that may be offered.


2015 ◽  
Vol 33 (31) ◽  
pp. 3544-3549 ◽  
Author(s):  
Maureen E. Mork ◽  
Y. Nancy You ◽  
Jun Ying ◽  
Sarah A. Bannon ◽  
Patrick M. Lynch ◽  
...  

Purpose Established guidelines recommend evaluation for hereditary cancer syndromes in patients younger than 50 years diagnosed with colorectal cancer (CRC). This group has been well described in the literature; however, patients diagnosed as adolescents and young adults are not well represented in CRC studies. Here, we define the clinical profile, including the extent of hereditary cancer syndromes and family history of cancer, in patients diagnosed with CRC at age 35 or younger. Patients and Methods We reviewed patients who underwent genetic counseling at our institution during 5 years (2009 to 2013). Data were collected regarding demographics, clinicopathologic information, tumor and genetic testing, and family history. Patients with an identified hereditary cancer syndrome were compared with those without a syndrome. Results Of the 193 patients with evaluable data, 35% had an identifiable hereditary cancer syndrome, including 23 with Lynch syndrome, 22 with mutation-negative Lynch syndrome, 16 with familial adenomatous polyposis, two with constitutional mismatch repair deficiency, two with biallelic MUTYH mutations, and one with Li-Fraumeni syndrome. Patients without a hereditary syndrome more frequently presented with metastatic disease, whereas patients with a syndrome were more likely to present at earlier stages and to have a family history of cancer. Nevertheless, a substantial proportion of the hereditary syndromes (19%) were diagnosed in individuals with no family history of the disease. Conclusion We conclude that patients diagnosed with CRC at age 35 years or younger should receive genetic counseling regardless of their family history and phenotype.


1998 ◽  
Vol 43 (4) ◽  
pp. 375-380 ◽  
Author(s):  
Mary Jane Esplen ◽  
Brenda Toner ◽  
Jonathan Hunter ◽  
Gordon Glendon ◽  
Kate Butler ◽  
...  

Objective: To describe and illustrate elements of a group counselling approach designed to enhance the communication of risk information on breast cancer (BC) to women with a family history of this disease. Breast cancer is a leading cause of female cancer death. The most important risk factor for BC is a positive family history in at least 1 first-degree relative, and approximately one-third of women with BC have a family history of the disease. Recent evidence suggests that there is a significant psychological impact associated with having a family history of BC, and this may influence the psychological adjustment and response to being counselled for personal risk. New counselling approaches are required. Method: This paper describes a group therapy approach that incorporates principles of supportive-expressive therapy designed to address the emotional impact of being at risk for BC and to promote accuracy of perceived risk. The key elements of the intervention are described along with clinical illustrations from groups that are part of an ongoing study to develop and standardize the group therapy. Conclusion: Qualitative data from the groups suggest that this model of therapy is both feasible and effective.


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