Soft tissue, pelvic, and urinary bladder leiomyosarcoma as second neoplasm following hereditary retinoblastoma

Venkatraman, Lakshmi; Goepel, J R; Steele, Kathryn; Dobbs, Stephen; Lyness, Roy W.; McCluggage, W. Glenn

doi:10.1136/jcp.56.3.233

Cited by 33 publications

(26 citation statements)

References 21 publications

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“…One case describes LMS of the retroperitoneum [15], while Fletcher et al describe a hereditary retinoblastoma patient with adenocarcinoma of the uterus [16]. Our robust long-term follow-up allows for more patients entering the age when ULMS are commonly diagnosed.…”

Section: Discussionmentioning

confidence: 99%

Increased risk of secondary uterine leiomyosarcoma in hereditary retinoblastoma

Francis

Kleinerman

Seddon

et al. 2012

Gynecologic Oncology

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Objective In the US, second non-ocular malignancies are the primary cause of death in retinoblastoma survivors with the germline RB1 mutation. Soft tissue sarcomas are one of the most likely malignancies to pose a risk to these patients, with leiomyosarcoma (LMS) being the most common subtype. As our cohort is followed for a longer period, we discover new second malignancy risks for these patients. Methods We estimated the risk for uterine leiomyosarcoma (ULMS) in a cohort of 1854 patients with retinoblastoma who were diagnosed at two US institutions from 1914 through 1996. The standardized incidence ratio and excess absolute risk were calculated by comparison with population data from the Connecticut Tumor Registry or from National Cancer Institute Surveillance, Epidemiology, and End Results (SEER) database. The cumulative risk at 50 years of age was also calculated. Results Seven of 525 female hereditary retinoblastoma patients developed ULMS. Five of these patients were used in the risk analysis, resulting in an excess risk of 3.87 per 10,000 women. Among hereditary patients who developed ULMS the excess risk increases dramatically with age: to 20/10,000 for female hereditary retinoblastoma patients aged between 30–39 years, and to 27/10,000 for patients aged 40+ years. Conclusion There is a substantial excess risk of ULMS in female hereditary retinoblastoma patients. As more patients survive into their thirties, this number is likely to increase. These findings raise the question of early childbearing, screening and prophylactic measures in hereditary retinoblastoma patients: all issues that would benefit from confirmation from other retinoblastoma cohorts, to allow for better guided counsel of these patients.

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Section: Discussionmentioning

confidence: 99%

Increased risk of secondary uterine leiomyosarcoma in hereditary retinoblastoma

Francis

Kleinerman

Seddon

et al. 2012

Gynecologic Oncology

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“…Recent reports describe three patients who developed leiomyosarcomas, one involving the subcutaneous tissue of the thigh and the pelvic soft tissues and the other the urinary bladder, following hereditary retinoblastoma 36, 38 and 49 years earlier, respectively [51,52]. We also have reported a case of primary bladder LMS in a 45-year-old woman with a history of hereditary Rb.…”

Section: Tumor Suppressor and Oncogenic Pathway In Ut-lmsmentioning

confidence: 79%

Candidate Molecules as Tumor Suppressor for Human Uterine Mesenchymal Tumor

Hayashi¹

2013

iosrphr

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: Uterine leiomyosarcoma (Ut-LMS) develops more often in myometrium of the uterine body than in the uterine cervix. The development of gynecologic tumors is often correlated with female hormone secretion; however, the development of Ut-LMS is not substantially correlated with hormonal conditions, and the risk factor (s) are not yet known. Importantly, a diagnostic-biomarker, which distinguishes malignant tumor Ut-LMS from benign tumor leiomyoma (LMA), is yet to be established. Accordingly, it is necessary to examine risk factor(s) associated with Ut-LMS, to establish a diagnosis and a clinical treatment method. The mice with a homozygous deficiency for proteasome -ring subunit, low-molecular mass polypeptide (LMP)2/1i spontaneously develop Ut-LMS, with a disease prevalence of ~37% by 12 months of age. In the recent study, we found LMP2/1i expression to be absent in human Ut-LMS, but clearly present in other human uterine mesenchymal tumors including uterine LMA. Further analyses with clinical materials and the gene-modified mice have not clarified the biological significance of the TP53 and retinoblastoma (Rb) pathway in malignant myometrium transformation, thus implicating LMP2/1i as an anti-tumorigenic candidate. This role of LMP2/1i as a tumor suppressor may lead to new therapeutic targets in human

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“…The RB gene is a tumor suppressor gene encoding a nuclear phosphoprotein that functions as a regulator of cell cycle progression. Patients with hereditary retinoblastomas are probably at increased risk of developing leiomyosarcoma and other soft-tissue sarcomas [10]. A review of the literature revealed also an increased prevalence for leiomyosarcoma of the urinary bladder in cyclophosphamide-exposed patients treated for other malignant conditions [3,[11][12][13][14][15].…”

Section: Discussionmentioning

confidence: 99%

Leiomyosarcoma of the urinary bladder presenting as life threatening gross hematuria

et al. 2009

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Leiomyosarcomas are a relatively rare tumor entity encountered within the urinary bladder. There are just over 100 cases reported in the medical literature. Herein, we describe a case of leiomyosarcoma presenting initially as a urinary tract infection with lower abdominal pain. A life threatening episode of gross hematuria guided to the final diagnosis and treatment. Due to the rarity of this malignancy, we present this case including a review of the existing literature relative to the diagnosis and treatment.

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Soft tissue, pelvic, and urinary bladder leiomyosarcoma as second neoplasm following hereditary retinoblastoma

Cited by 33 publications

References 21 publications

Increased risk of secondary uterine leiomyosarcoma in hereditary retinoblastoma

Increased risk of secondary uterine leiomyosarcoma in hereditary retinoblastoma

Candidate Molecules as Tumor Suppressor for Human Uterine Mesenchymal Tumor

Leiomyosarcoma of the urinary bladder presenting as life threatening gross hematuria

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