Case Report of Small Cell Carcinoma of the Ovary, Hypercalcemic Type (Ovarian Rhabdoid Tumor) with SMARCB1 Mutation: A Literature Review of a Rare and Aggressive Condition

Simões, M.F.; Costa, Alexandre André Balieiro Anastácio da; Silva, Tullio Novaes; Fernandes, Lizieux; Bovolim, Graziele; Torrezan, Giovana Tardin; Carraro, Dirce Maria; Baiocchi, Glauco; Menezes, Ademir Narcizo Oliveira; Santos, Elizabeth Santana Dos; Brot, Louise De

doi:10.3390/curroncol29020037

Cited by 9 publications

(9 citation statements)

References 32 publications

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“…SMARCA4 has both somatic and germline mutations, with germline variants showing up in anywhere between 8% and almost 40% of instances, depending on the cohort [ 5–7 ]. Later, a thorough genomic analysis of SCCOHT demonstrated that these tumors had an astonishingly low number of somatic mutations and genomic stability, bolstering the idea that epigenetic dysregulation is primarily responsible for these tumors’ occurrence [ 9 ].…”

Section: Discussionmentioning

confidence: 99%

“…The evidence that is now available, however, is made up of case reports or brief retrospective series with various management approaches, because no randomized studies have been done so far. A multicenter phase II trial at Institut Gustave Roussy is the only prospective clinical study in SCCOHT that tested a combination chemotherapy (PAVEP: cisplatin, adriamycin, vepeside, and cyclophosphamide) followed by radical surgery, high dose chemotherapy, and autologous stem cell transplant, and found that among the 27 SCCOHT patients, the 3-year survival rate was 49% [ 9 ].…”

Section: Discussionmentioning

confidence: 99%

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A rare case of small cell carcinoma of the ovary, hypercalcemic type

Boujida,

Mahdi,

Khmou

et al. 2024

Journal of Surgical Case Reports

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Small cell carcinoma of ovary, hypercalcemic type (SCCOHT) is an unusual malignant tumor that most commonly affects young women. Unfortunately, it has a very poor prognosis. We describe here an unusual case of a Moroccan young woman with a left ovarian mass and a symptomatic hypercalcemia. Morphologically, there are some malignant tumors that resemble SCCOHT; thus, it is very challenging to diagnose, and immunohistochemistry has a great contribution in it. Hopefully, molecular tools and new therapies will improve the management of these cases in the near future.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

A rare case of small cell carcinoma of the ovary, hypercalcemic type

Boujida,

Mahdi,

Khmou

et al. 2024

Journal of Surgical Case Reports

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“…Fourteen articles provided suggestions for targeted therapies [2,11,34,42,60,64,65,71,73,[75][76][77][78]. The majority of the articles discussed the promising results from mainly preclinical studies.…”

Section: Potential Targeted Therapiesmentioning

confidence: 99%

Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Patient Characteristics, Treatment, and Outcome—A Systematic Review

Wens,

Hulsker,

Fiocco

et al. 2023

Cancers

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Background: Small-cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare aggressive ovarian malignancy mainly affecting children, adolescents, and young adults. Since the discovery of mutations in the SMARCA4 gene in 2014, SCCOHT has become the subject of extensive investigation. However, international uniform treatment guidelines for SCCOHT are lacking and the outcome remains poor. The aim of this systematic review is to generate an overview of all reported patients with SCCOHT from 1990 onwards, describing the clinical presentation, genetic characteristics, treatment, and outcome. Methods: A systematic search was performed in the databases Embase, Medline, Web of Science, and Cochrane for studies that focus on SCCOHT. Patient characteristics and treatment data were extracted from the included studies. Survival was estimated using Kaplan–Meier’s methodology. To assess the difference between survival, the log-rank test was used. To quantify the effect of the FIGO stage, the Cox proportional hazard regression model was estimated. The chi-squared test was used to study the association between the FIGO stage and the surgical procedures. Results: Sixty-seven studies describing a total of 306 patients were included. The median patient age was 25 years (range 1–60 years). The patients mostly presented with non-specific symptoms such as abdominal pain and sometimes showed hypercalcemia and elevated CA-125. A great diversity in the diagnostic work-up and therapeutic approaches was reported. The chemotherapy regimens were very diverse, all containing a platinum-based (cisplatin or carboplatin) backbone. Survival was strongly associated with the FIGO stage at diagnosis. Conclusions: SCCOHT is a rare and aggressive ovarian cancer, with a poor prognosis, and information on adequate treatment for this cancer is lacking. The testing of mutations in SMARCA4 is crucial for an accurate diagnosis and may lead to new treatment options. Harmonization and international collaboration to obtain high-quality data on diagnostic investigations, treatment, and outcome are warranted to be able to develop international treatment guidelines to improve the survival chances of young women with SCCOHT.

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“…Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a very rare (<0.01% of ovarian malignancies) and highly malignant ovarian cancer that predominantly affects young women [ 1 ]. The mean age of diagnosis is 23 years and the long-term survival rate in early-stage cases is around 30%, with the majority of patients dying within two years of diagnosis [ 1 , 2 ]. There are fewer than 500 reported cases of SCCOHT in the current literature and an established treatment regimen for the malignancy does not currently exist [ 1 , 2 ].…”

Section: Introductionmentioning

confidence: 99%

A Case of Hypercalcemic-Type Stage IVB Small-Cell Carcinoma of the Ovary in a Young Woman

Partovi,

Rayes,

Bureau

et al. 2024

Cureus

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A 38-year-old nulliparous woman with severe obesity (BMI 66) and hypertension presented with constipation, fatigue, weakness, and poor appetite that had progressively worsened over the prior two to three weeks. Upon admission, the patient was found to have significant hypercalcemia, leukocytosis, and lactic acidosis. Computed tomography (CT) scan of the chest, abdomen, and pelvis revealed an adnexal mass with extensive lesions throughout her pelvis, abdomen, and chest. An ultrasound-guided omental core biopsy was performed, which was confirmatory for metastatic ovarian small cell carcinoma. Given her poor prognosis and clinical status, chemotherapy was likely to provide minimal benefit and ultimately the patient decided to pursue a comfort-oriented plan of care and passed away on day 9 of admission.

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Case Report of Small Cell Carcinoma of the Ovary, Hypercalcemic Type (Ovarian Rhabdoid Tumor) with SMARCB1 Mutation: A Literature Review of a Rare and Aggressive Condition

Cited by 9 publications

References 32 publications

A rare case of small cell carcinoma of the ovary, hypercalcemic type

A rare case of small cell carcinoma of the ovary, hypercalcemic type

Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Patient Characteristics, Treatment, and Outcome—A Systematic Review

A Case of Hypercalcemic-Type Stage IVB Small-Cell Carcinoma of the Ovary in a Young Woman

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