Unique Combination of Diamond-Blackfan Anemia and Lynch Syndrome in Adult Female: A Case Report.
| Title: | Unique Combination of Diamond-Blackfan Anemia and Lynch Syndrome in Adult Female: A Case Report. |
|---|---|
| Authors: | Tsukanov AS; Ryzhikh National Medical Research Center of Coloproctology, Moscow, Russia.; Pikunov DY; Ryzhikh National Medical Research Center of Coloproctology, Moscow, Russia.; Shubin VP; Ryzhikh National Medical Research Center of Coloproctology, Moscow, Russia.; Barinov AA; Ryzhikh National Medical Research Center of Coloproctology, Moscow, Russia.; Kashnikov VN; Ryzhikh National Medical Research Center of Coloproctology, Moscow, Russia.; Shelygin YA; Ryzhikh National Medical Research Center of Coloproctology, Moscow, Russia.; Kaprin AD; National Medical Radiology Research Center, Moscow, Russia.; Filonenko EV; National Medical Radiology Research Center, Moscow, Russia.; Sidorov DV; National Medical Radiology Research Center, Moscow, Russia.; Maschan AA; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.; Novichkova GA; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.; Yasko LA; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.; Raykina EV; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.; Rumyantsev AG; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia. |
| Source: | Frontiers in oncology [Front Oncol] 2021 Apr 16; Vol. 11, pp. 652696. Date of Electronic Publication: 2021 Apr 16 (Print Publication: 2021). |
| Publication Type: | Case Reports; Journal Article |
| Language: | English |
| Journal Info: | Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101568867 Publication Model: eCollection Cited Medium: Print ISSN: 2234-943X (Print) Linking ISSN: 2234943X NLM ISO Abbreviation: Front Oncol Subsets: PubMed not MEDLINE |
| Imprint Name(s): | Original Publication: [Lausanne : Frontiers Research Foundation] |
| Abstract: | We present an extremely rare clinical case of a 38-year-old Russian patient with multiple malignant neoplasms of the uterus and colon caused by genetically confirmed two hereditary diseases: Diamond-Blackfan anemia and Lynch syndrome. Molecular genetic research carried out by various methods (NGS, Sanger sequencing, aCGH, and MLPA) revealed a pathogenic nonsense variant in the MSH6 gene: NM_000179.2: c.742C>T, p.(Arg248Ter), as well as a new deletion of the chromosome 15's locus with the capture of 82,662,932-84,816,747 bp interval, including the complete sequence of the RPS17 gene. The lack of expediency of studying microsatellite instability in endometrial tumors using standard mononucleotide markers NR21, NR24, NR27, BAT25, BAT26 was demonstrated. The estimated prevalence of patients with combination of Diamond-Blackfan anemia and Lynch syndrome in the world is one per 480 million people.; (Copyright © 2021 Tsukanov, Pikunov, Shubin, Barinov, Kashnikov, Shelygin, Kaprin, Filonenko, Sidorov, Maschan, Novichkova, Yasko, Raykina and Rumyantsev.) |
| Competing Interests: | The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. |
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| Contributed Indexing: | Keywords: Diamond–Blackfan anemia; Lynch syndrome; NGS; aCGH; colorectal cancer; endometrial cancer; microsatellite instability |
| Entry Date(s): | Date Created: 20210503 Latest Revision: 20240809 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC8085342 |
| DOI: | 10.3389/fonc.2021.652696 |
| PMID: | 33937060 |
| Database: | MEDLINE |
Case Reports; Journal Article