Multiple Chromoanasynthesis in a Rare Case of Sporadic Renal Leiomyosarcoma: A Case Report

Anoshkin, K.I.; Карандашева, К. О.; Goryacheva, K M; Pyankov, Denis; Koshkin, Philipp; Pavlova, Tatiana Vladimirovna; Bobin, Alexandr Nikolaevich; Shpot, E V; Chernov, Yaroslav; Винаров, А.З.; Zaletaev, D. V.; Kutsev, Sergei; Стрельников, В. В.

doi:10.3389/fonc.2020.01653

Cited by 3 publications

(3 citation statements)

References 52 publications

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“…In both cases, the same regions can undergo replication several times and form palindromic repeats due to foldback templating. Chromoanasynthesis has been found to account for CNV of oncogenic loci in breast cancer [ 92 ], B-cell lymphoma [ 93 ], mouse brain tumors [ 94 ], and on three separate chromosomes, 6, 7 and 12 in a renal leiomyosarcoma [ 95 ]. There are also examples of congenital germline chromoanasynthesis on human chromosomes 1 [ 96 ] and 21 [ 97 ] without obvious pathology but deleterious effects on chromosome 9 [ 98 ], 11 [ 99 ], 13 [ 100 ], 14 [ 101 ], and 18 [ 102 ].…”

Section: Published Results On Genome Structural Changes In Cancermentioning

confidence: 99%

How Chaotic Is Genome Chaos?

Shapiro

2021

Cancers

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Cancer genomes evolve in a punctuated manner during tumor evolution. Abrupt genome restructuring at key steps in this evolution has been called “genome chaos.” To answer whether widespread genome change is truly chaotic, this review (i) summarizes the limited number of cell and molecular systems that execute genome restructuring, (ii) describes the characteristic signatures of DNA changes that result from activity of those systems, and (iii) examines two cases where genome restructuring is determined to a significant degree by cell type or viral infection. The conclusion is that many restructured cancer genomes display sufficiently unchaotic signatures to identify the cellular systems responsible for major oncogenic transitions, thereby identifying possible targets for therapies to inhibit tumor progression to greater aggressiveness.

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Section: Published Results On Genome Structural Changes In Cancermentioning

confidence: 99%

How Chaotic Is Genome Chaos?

Shapiro

2021

Cancers

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“…Its molecular basis involves intricate genetic and epigenetic changes, frequently including alterations in the RB1, TP53, and PTEN genes, which are fundamental to the regulation of the cell cycle, apoptosis, and cellular proliferation [ 57 ]. Epigenetic modifications also play a central role in PAL’s pathogenesis, which can lead to the activation of oncogenes and the suppression of tumor suppressor genes, thereby promoting tumor growth and progression [ 58 ].…”

Section: Discussionmentioning

confidence: 99%

Outcomes and Follow-Up Trends in Adrenal Leiomyosarcoma: A Comprehensive Literature Review and Case Report

Mongardini,

Paolicelli,

Catauro

et al. 2024

JCM

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Background: Leiomyosarcoma (LMS) originating from the adrenal gland is exceedingly rare, constituting a minute fraction of soft tissue sarcomas. Due to its rarity, with less than 50 documented cases in English medical literature, the diagnosis and management of adrenal LMS remain challenging. The aim of this study was to perform a review of the literature, in order to evaluate the prognosis of these rare cancers and report our specific case. Methods: A systematic review of the literature was conducted using PubMed, Web of Science, Google Scholar, and Scopus databases, up to December 2020. The search utilized MeSH terms such as “Adrenal Gland Neoplasms,” “Leiomyosarcoma,” “Adrenalectomy,” and “Smooth Muscle Tumor.” The inclusion criteria focused on studies reporting patients with a histopathological diagnosis of adrenal leiomyosarcoma. The PRISMA guidelines were followed to ensure a comprehensive analysis. Results: Out of 63 identified studies, 43 met the inclusion criteria and were reviewed. These studies highlighted the rarity and aggressive behavior of adrenal leiomyosarcoma. Surgical excision remains the cornerstone of treatment, often complemented by adjuvant therapies. The reviewed case involved a 52-year-old woman who underwent a right laparoscopic adrenalectomy for a 9 × 7 × 6 cm grade 3 leiomyosarcoma. Despite subsequent adjuvant chemotherapy, hepatic metastases were detected, illustrating the aggressive nature of the disease. The literature underscores the importance of histopathological analysis and long-term surveillance for managing disease progression. Conclusions: Optimal management of adrenal leiomyosarcoma requires a multidisciplinary approach and meticulous follow-up. The rarity of the disease poses challenges for standardizing treatment, but surgical excision and tailored adjuvant therapies show promise. Further research is essential to refine treatment strategies and improve prognosis for this rare malignancy.

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“…However, renal LMS, accounting for 50–60% of all cases, is the most common pathological subtype of renal sarcoma ( 4 ). Because of its rarity, most reports on renal LMS are case studies ( 5 , 6 ). Few case series have reported the clinicopathological characteristics, potential treatment choice, and survival outcomes of LMS ( 7 – 9 ), which have not been fully characterized.…”

Section: Introductionmentioning

confidence: 99%

Clinicopathological Characteristics and Survival Outcomes of Primary Renal Leiomyosarcoma

et al. 2021

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Background: Primary renal leiomyosarcoma (LMS) is an exceedingly rare entity with a poor prognosis. We summarized the clinicopathological characteristics, treatment choice, and survival outcomes of LMS from the Surveillance, Epidemiology, and End Results (SEER) database.Methods: Renal LMS and kidney renal clear cell carcinoma (KIRC) data from 1998 to 2016 were collected from the SEER database. The continuous variables were analyzed using t-tests, while the categorical variables were analyzed using Pearson's chi-squared or Fisher's exact tests. Propensity score matching (PSM) was also performed. The cancer-specific survival (CSS) and overall survival (OS) curves were estimated using Kaplan-Meier analyses and compared by log-rank tests. The risk factors for CSS and OS were estimated using univariable and multivariable Cox proportional hazard regression models.Results: A total of 140 patients with renal LMS and 75,401 patients with KIRC were enrolled. These groups differed significantly in sex, race, tumor size, grade, SEER stage, surgery, radiation, and chemotherapy. Renal LMS exhibited poorer CSS and OS compared with KIRC before and after PSM. For renal LMS, the univariate Cox proportional hazard regression model indicated that larger tumor size, higher tumor grade, higher SEER stage, and chemotherapy were risk factors for CSS and OS, while surgery appeared to be a protective factor. However, only tumor grade, SEER stage, and receiving surgery remained independent prognostic factors in the multivariable Cox proportional hazard regression model. In addition, subgroup analyses indicated that surgery remained a protective factor for advanced renal LMS. However, there was no survival benefit for patients receiving chemotherapy.Conclusions: Primary renal LMS is an exceedingly rare entity with distinct clinicopathological features and a poor prognosis. A higher tumor grade and late stage may indicate a poor prognosis. Complete tumor resection remains to be the first treatment choice, while chemotherapy may be a palliative treatment for patients with advanced disease.

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Multiple Chromoanasynthesis in a Rare Case of Sporadic Renal Leiomyosarcoma: A Case Report

Cited by 3 publications

References 52 publications

How Chaotic Is Genome Chaos?

How Chaotic Is Genome Chaos?

Outcomes and Follow-Up Trends in Adrenal Leiomyosarcoma: A Comprehensive Literature Review and Case Report

Clinicopathological Characteristics and Survival Outcomes of Primary Renal Leiomyosarcoma

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