[Adrenocortical cancer: late diagnosis of the disease on the example of a clinical case. Case report].

IF 0.3 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Terapevticheskii Arkhiv Pub Date : 2023-12-28 DOI:10.26442/00403660.2023.12.202430
E A Starostina, N V Molashenko, A R Levshina, N V Pachuashvili, A Chevais, M P Isaeva, K V Getazheev, D G Beltsevich, N M Platonova, E A Troshina
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Abstract

Adrenocortical carcinoma (ACC) is a rare malignant tumor originating in the adrenal cortex and characterized by poor 5-year survival. It occurs with a frequency of 2-4 cases per 2 million in the population. Women are more frequently affected than men and it is mostly detected in the fourth and fifth decades. In the most of cases, the cancerogenesis occurs sporadically because of gene driver mutations in somatic adrenocortical cells, in other cases it can be found as part of a genetically determined syndrome such as Li-Fraumeni syndrome or Wermer's syndrome (multiple endocrine adenomatosis type I). ACC most frequently happens occurs without symptoms in the initial stages leading to poor diagnoses. Because of this lack of early detection, the tumor is not considered malignant reducing the benefits of further treatment. Sometimes the fact that the resected tumor is indeed adrenocortical carcinoma becomes clear only after recurrence, or after the appearance of metastases. We present a case of adrenocortical carcinoma in a 46-year-old woman who went to the doctor in 1.5 year after symptoms were manfested. This clinical case illustrates the consequences of late diagnosis of a malignant tumor. We would like to emphasize the importance of timely detection of a neoplasm, using all of the potential of laboratory-instrumental and genomic analysis. Due to low oncological awareness, our patient was slow to seek medical help, which in turn led not only to metastases, but also to complications in the cardiovascular system.

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[肾上腺皮质癌:一个临床病例的晚期诊断。病例报告]。
肾上腺皮质癌(ACC)是一种起源于肾上腺皮质的罕见恶性肿瘤,其特点是 5 年生存率低。其发病率为每 200 万人口中 2-4 例。女性患者多于男性,且大多在第四和第五个十年才被发现。在大多数病例中,癌症是由于体细胞肾上腺皮质的基因驱动突变而偶发性发生的,在其他病例中,它可能是由基因决定的综合征的一部分,如李弗梅尼综合征(Li-Fraumeni syndrome)或韦默综合征(多发性内分泌腺瘤病 I 型)。ACC 最常发生在没有症状的初期阶段,因此诊断率很低。由于缺乏早期发现,肿瘤不被认为是恶性的,从而减少了进一步治疗的益处。有时,只有在复发或出现转移后,才能明确切除的肿瘤确实是肾上腺皮质癌。我们介绍了一例肾上腺皮质癌病例,患者是一名 46 岁的女性,在出现人粪尿症状 1.5 年后才就诊。这个临床病例说明了恶性肿瘤晚期诊断的后果。我们要强调的是,利用实验室仪器和基因组分析的所有潜力及时发现肿瘤的重要性。由于对肿瘤的认识不足,我们的病人迟迟没有就医,结果不仅导致肿瘤转移,还引发了心血管系统的并发症。
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来源期刊
Terapevticheskii Arkhiv
Terapevticheskii Arkhiv 医学-医学:内科
CiteScore
1.40
自引率
33.30%
发文量
171
审稿时长
3-8 weeks
期刊介绍: Терапевтический архив The journal was founded by the prominent Russian therapists M.P. Konchalovsky and G.F. Lang in 1923. Then its editors-in-chief were Professors V.N. Vinogradov and A.G. Gukasyan. Since 1972, E.I. Chazov, Academician of the Russian Academy of Sciences, has been heading the editorial board of the journal. Over 90 years, there have been more than 1000 issues where the authors and editorial staff have done their best for readers to keep abreast of current advances in medical science and practice and for physicians to master the advanced principles of recognition and treatment of a wide spectrum of visceral diseases. The papers published in the journal (editorials, original articles, lectures, reviews, etc.) cover both current scientific achievements and practical experience in diagnosing, treating, and preventing visceral diseases. The authors of publications are not only Russian, but also foreign scientists and physicians. All papers are peer-reviewed by highly qualified Russian specialists. The journal is published monthly. Traditionally, each issue has predominantly certain thematic areas covering individual therapy specializations. Every year, one of the issues is devoted to related problems in practical medicine (allergology and immunology, neurology and psychiatry, obstetrics, oncology, etc.). This all draws the attention of the reading public to the journal. The journal is indexed in RSCI (Russian Science Citation Index), PubMed/Medline, Index Medicus, Scopus/EMBASE, Web of Science Core Collection (Science Citation Index Expanded), Web of Science (Russian Science Citation Index - RSCI, Current Contents Connect, BIOSIS Previews), Google Scholar, Ulrich''s Periodicals Directory. The journal is included in the list of periodicals recommended by the Higher Attestation Committee for publishing the papers containing the basic materials of doctoral and candidate dissertations. By the decision of the Presidium of the Russian Academy of Medical Sciences, the “Therapevticheskiy Arkhiv” was awarded the Botkin medal. It was admitted to the European Association of Sciences Editors (EASE). The journal was honored with the Golden Press Fund decoration at the 13th International Press Professional Exhibition.
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