Prolonged survival among women with BRCA germline mutations and advanced endometrial cancer: a case series

Kwon, Janice S.; Lenehan, John; Carey, Mark; Ainsworth, Peter

doi:10.1111/j.1525-1438.2007.01030.x

Cited by 12 publications

(11 citation statements)

References 29 publications

(25 reference statements)

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“…Two of the advanced endometrial cancers were papillary serous type and one was a sarcomatoid carcinoma. The discovery by Kwon et al. (2008a) that 2/8 (25%) endometrial cancers were papillary serous type in this database of BRCA1 and BRCA2 mutation carriers is most curious, especially since these women were relatively young for this histological type at 59 years and 64 years, respectively.…”

Section: Diagnosis and Managementmentioning

confidence: 96%

“…Two of the advanced endometrial cancers were papillary serous type and one was a sarcomatoid carcinoma. The discovery by Kwon et al (2008a) that 2/8 (25%) endometrial cancers were papillary serous type in this database of BRCA1 and BRCA2 mutation carriers is most curious, especially since these women were relatively young for this histological type at 59 years and 64 years, respectively. In comparison, only 3.9% of 7496 uterine corpus cancer patients reported in the International Federation of Gynecology and Obstetrics 25th Annual Report on the Results of Treatment of Gynecological Cancer were papillary serous carcinomas (Creasman et al, 2003).…”

Section: Prophylactic Bilateral Salpingo-oophorectomymentioning

confidence: 96%

“…Three of the BRCA1 and BRCA2 mutation carriers with uterine serous carcinoma in the series of Biron-Shental et al had past histories of breast cancer and 4 of these patients had first-degree relatives with breast or ovarian cancers. For the purpose of retrospectively assessing the effectiveness of antineoplastic chemotherapy, particularly platinum compounds for treating endometrial cancer in BRCA1 and BRCA2 mutation carriers, Kwon et al (2008a) recently searched the London Health Sciences Centre database in Ontario. They identified only 8 patients with a diagnosis of endometrial cancer among 587 mutation carriers.…”

Section: Prophylactic Bilateral Salpingo-oophorectomymentioning

confidence: 99%

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Hereditary ovarian carcinoma: Heterogeneity, molecular genetics, pathology, and management

et al. 2009

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Hereditary ovarian cancer accounts for at least 5% of the estimated 22,000 new cases of this disease during 2009. During this same time, over 15,000 will die from malignancy ascribed to ovarian origin. The bulk of these hereditary cases fits the hereditary breast-ovarian cancer syndrome, while virtually all of the remainder will be consonant with the Lynch syndrome, disorders which are autosomal dominantly inherited. Advances in molecular genetics have led to the identification of BRCA1 and BRCA2 gene mutations which predispose to the hereditary breast-ovarian cancer syndrome, and mutations in mismatch repair genes, the most common of which are MSH2 and MLH1, which predispose to Lynch syndrome. These discoveries enable relatively certain diagnosis, limited only by their variable penetrance, so that identification of mutation carriers through a comprehensive cancer family history might be possible. This paper reviews the subject of hereditary ovarian cancer, with particular attention to its molecular genetic basis, its pathology, and its phenotypic/genotypic heterogeneity.

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Section: Diagnosis and Managementmentioning

confidence: 96%

Section: Prophylactic Bilateral Salpingo-oophorectomymentioning

confidence: 96%

Section: Prophylactic Bilateral Salpingo-oophorectomymentioning

confidence: 99%

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Hereditary ovarian carcinoma: Heterogeneity, molecular genetics, pathology, and management

et al. 2009

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“…14 In another study of 3 patients with BRCA germline mutations and advanced (stage 4) endometrial cancer (2 USC and 1 sarcomatoid carcinoma), all 3 patients were alive with no evidence of recurrent disease after follow-up ranging from 3.3 to 14.6 years. 7 The authors speculated that BRCA mutations may be associated with a better prognosis in patients with advanced endometrial cancer. However, another study found no evidence of BRCA1 or BRCA2 mutation in 56 patients with USC despite 11% of these having a personal and 29% a close family history of breast cancer.…”

Section: Discussionmentioning

confidence: 99%

BRCA1 Immunohistochemical Staining as a Prognostic Indicator in Uterine Serous Carcinoma

Beirne

Quinn

Maxwell

et al. 2013

Int J Gynecol Cancer

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“…8 A family history in some UPSC patients suggests an underlying hereditary defect, and BRCA mutations have been detected in individuals with UPSC. 9 This is in contrast to patients with endometrioid histology, in whom environmental and intrinsic, prolonged, unopposed estrogen exposure appears causative.…”

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confidence: 85%

Uterine papillary serous carcinoma

Annunziata¹,

Kotz²

2009

Cancer

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The uterine corpus gives rise to cancers of several tissue types. Malignancies of the uterine epithelial lining can appear as glandular endometrioid, papillary serous, or clear cell histologies. Uterine papillary serous carcinoma (UPSC) comprises <10% of uterine cancers yet accounts for >20% of uterine cancerspecific deaths. 1 This less-common histologic variant is characterized by its aggressive nature and shorter overall survival compared with uterine cancer of endometrioid histology. Thus, UPSC dictates a more comprehensive approach to treatment than its endometrioid counterpart, requiring complete surgical staging and adjuvant therapy, even in patients with early-stage disease.The study by Nickels Fader et al was a retrospective analysis of outcome in 142 patients with stage I UPSC who were treated with surgery followed by observation, radiotherapy, or chemotherapy AE radiotherapy. 2 The authors reported better outcomes when adjuvant chemotherapy was used, but raised the question of whether radiation is necessary. The 142 cases were collected from 9 institutions, allowing for meaningful statistical comparisons to be made between the 3 postsurgical treatment options. Patients who were treated postoperatively with chemotherapy were found to have a lower risk of disease recurrence when compared with those treated with observation or radiotherapy alone.This analysis builds on previously published work describing the utility of adjuvant treatment for all patients with stage I UPSC, except those without residual uterine disease after complete surgical staging. To our knowledge, Kelly et al were the first to suggest that chemotherapy was not necessary for patients with stage I UPSC who were found to have no residual disease at the time of definitive surgery. 3 The formal stage of a patient's uterine carcinoma is defined surgically, based on pathologic assessment of the pelvic and para-aortic lymph nodes as well a full evaluation of the omentum. Patients at low risk of disease recurrence (ie, those who have stage I, grade 1/2 uterine carcinoma of endometrioid histology) may undergo total abdominal hysterectomy and bilateral salpingo-oophorectomy (TAH-BSO) alone, with a reported recurrence rate of only 2%. 4 However, the presence of papillary serous histology places the patient at high risk of disease recurrence, and requires comprehensive surgical resection such as that performed for ovarian cancer, including TAH-BSO, pelvic and para-aortic lymphadenectomy, and omentectomy. The necessity

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Prolonged survival among women with BRCA germline mutations and advanced endometrial cancer: a case series

Cited by 12 publications

References 29 publications

Hereditary ovarian carcinoma: Heterogeneity, molecular genetics, pathology, and management

Hereditary ovarian carcinoma: Heterogeneity, molecular genetics, pathology, and management

BRCA1 Immunohistochemical Staining as a Prognostic Indicator in Uterine Serous Carcinoma

Uterine papillary serous carcinoma

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