Li-Fraumeni syndrome in a patient with multiple anaplastic oligodendrogliomas of the brain (a case report and literature review)

Потапов, А А; Abdilatipov, A A; Охлопков, В. А.; Ag, Gavrilov; Захарова, Н. Е.; Goryaynov, S A; Kobyakov, G L; Absalyamova, O V; Кравчук, А Д; Kulikov, A S; Shugay, S.V.; Никитин, П.В.; Баталов, А И; Shelygin, Yu. A.; Lyubchenko, L. N.; Aliev, M. D.; Spallone, A

doi:10.17116/neiro201882487

Cited by 2 publications

(1 citation statement)

References 24 publications

(22 reference statements)

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“…For tumors with a high degree of malignancy and poor prognosis, we believe that the prognostic bene ts of postoperative adjuvant therapy outweigh the risks of long-term secondary cancer. Potapov et al reported that surgery combined with chemotherapy has a good prognosis in the treatment of anaplastic oligodendroglioma [22]. Klein JD et al used surgery and adjuvant radiotherapy to treat mucosal melanoma with LFS, and there was no recurrence, metastasis, or second primary tumor at a 30-month follow-up [23].…”

Section: Discussionmentioning

confidence: 99%

Undifferentiated Pleomorphic Sarcoma of the Spine in a patient with Li-Fraumeni syndrome: a case report

Zhang¹,

Yan²,

Bai³

et al. 2020

Preprint

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Background Undifferentiated pleomorphic sarcoma (UPS) is an aggressive tumor that rarely occurs in the spine. We present a 38-year-old male patient with Li-Fraumeni syndrome and discuss the treatment and prognosis.Case presentation A 38-year-old male patient presented with bilateral lower extremity weakness accompanied by radiation pain. He had been diagnosed with right adrenal cortical carcinoma previously and had a strong family history of cancer. PET/CT indicated increased uptake in many parts of the body, especially the right adrenal gland, the left occipital lobe, and the L4 vertebral body (VB). MRI also revealed the destruction of the L4 vertebral body and a paraspinal soft-tissue mass. The tumor was completely resected and pathological findings revealed UPS. Subsequent genetic testing revealed a mutation in the TP53 gene, which is consistent with Li-Fraumeni syndrome (LFS). The patient received postoperative adjuvant radiotherapy and did not develop local recurrence, metastasis, or secondary cancer during the 31-month follow-up.Conclusions Spinal UPS is a rare aggressive tumor with a poor prognosis. Surgery alone can improve the survival of patients but cannot effectively control the disease. In spinal UPS patients with LFS, we think that the prognostic benefits of postoperative adjuvant therapy outweigh the risks of long-term secondary cancer. Family history of cancer and genetic testing can help diagnose LFS, and MRI of the spine can aid the early detection of microlesions. For these patients, early diagnosis and intervention can effectively improve survival.

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Section: Discussionmentioning

confidence: 99%

Undifferentiated Pleomorphic Sarcoma of the Spine in a patient with Li-Fraumeni syndrome: a case report

Zhang¹,

Yan²,

Bai³

et al. 2020

Preprint

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Prognostic value of biohybrid screening results for assessing cancer risk using the example of lung cancer

Drokin,

Maksimov,

Matukhno

et al. 2024

Med. tr. prom. èkol.

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Introduction. One of the leading places in the structure of socially significant diseases in the Russian Federation is occupied by malignant neoplasms, among which cancer of the trachea, bronchi and lung occupies the first place in terms of prevalence. Screening for lung cancer is not carried out at the federal level in Russia; recommended screening measures include questionnaires to identify risk factors for the development of the disease (including occupational) and the formation of dispensary observation groups. The study aims to assess the prognostic value of a new method of biohybrid screening of lung cancer by exhaled air. Materials and methods. Scientists conducted a study at the National Medical Research Center of Oncology of the Ministry of Health, Russian Federation, with the participation of 24 conditionally healthy volunteers and 5 patients diagnosed with lung cancer in the early stages of the disease. The design of the study is simultaneous (on-line) with blinding; experts estimated the risk of systematic errors at 10 points on the QUADAS scale. The authors examined exhaled air samples on a gas analyzer (biohybrid detector) of the BGS-APK 02SZZ model, in which the sensor were animals — gray domesticated rats (Rattus norvegicus) with microelectrode matrices implanted into the olfactory bulb, and which were in the internal (ventilated) space of the analyzer in a state of drug anesthesia. The conclusion about the presence or absence of a risk of lung cancer was formed by an artificial neural network of the analyzer, at the input of which bioelectric signals from each microelectrode were received, which were preprocessed using a system for recording the focal activity of the olfactory analyzer. The specialists confirmed the presence or absence of a risk of lung cancer by a reference method, according to computed tomography of the chest in accordance with the Lung Imaging Reporting and Data System (LungRADS™). Results. During the study, experts determined the effectiveness indicators of the method of biohybrid lung cancer screening by exhaled air: sensitivity (64%), specificity (87%), prognosticality of negative and positive conclusions about the presence/absence of disease risk (82% and 72%, respectively). Conclusion. The safety, efficiency and throughput of the investigated method, together with the reproducibility of the analyzer's conclusions, meet the criteria of practicability to ensure the first (population-based) stage of lung cancer screening.

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Li-Fraumeni syndrome in a patient with multiple anaplastic oligodendrogliomas of the brain (a case report and literature review)

Cited by 2 publications

References 24 publications

Undifferentiated Pleomorphic Sarcoma of the Spine in a patient with Li-Fraumeni syndrome: a case report

Undifferentiated Pleomorphic Sarcoma of the Spine in a patient with Li-Fraumeni syndrome: a case report

Prognostic value of biohybrid screening results for assessing cancer risk using the example of lung cancer

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