A clinical case of multiple primary cancers in a carrier of rare SDK2 and NOTCH2 gene mutations

Nataliya N Timoshkina,Tatjana V Ausheva,Emma E Kechedzhieva,Dmitry Y Gvaldin,Ekaterina P Omelchuk,Oleg I Kit,Larisa N Vashhenko

doi:10.1186/s43042-021-00176-7

Nataliya N Timoshkina, Tatjana V Ausheva + Show 5 more

Open Access

https://doi.org/10.1186/s43042-021-00176-7

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Abstract

BackgroundGenetic predisposition is one of the risk factors for the development of multiple primary cancers (MPCs), the frequency of which increases and ranges from 2 to 17%. This study describes a combination of rare mutations, rs746551843 in the NOTCH2 gene and rs144933006 in the SDK2 gene, in a woman with breast cancer and leiomyosarcoma without a clearly burdened family history.Case presentationA 55-year-old Caucasian woman received complex treatment on the basis of the National Medical Research Centre for Oncology for left breast cancer and leiomyosarcoma of soft tissues of the left thigh. The patient was referred for consultation with a geneticist. Among direct relatives, a maternal aunt with a history of kidney cancer was not a carrier of the studied single nucleotide polymorphisms (SNPs). The healthy son of the patient inherited both mutations.ConclusionThus, perhaps in the described case, there is a synergistic effect of two alleles of moderate and low penetrance, which led to the phenotype of multiple primary cancers.

Highlights

Genetic predisposition is one of the risk factors for the development of multiple primary cancers (MPCs), the frequency of which increases and ranges from 2 to 17%
The identification of the germline mutation in a patient with a primary form of cancer portends an increased risk of developing additional primary tumours. This case report describes the clinical case of MPCs in a patient without a clearly burdened
From the history of the disease, the patient sought medical help in 2014. She was diagnosed with left breast cancer and leiomyosarcoma of soft tissue of the left thigh

Summary

Background

The identification of risk factors, as well as the definition of multiple primary cancers (MPCs), remain unsolved problems at present [1]. Among the main causes of MPCs, factors related to lifestyle, the environment, treatment conditions, and genetic determinants are noted In this case, the identification of the germline mutation in a patient with a primary form of cancer portends an increased risk of developing additional primary tumours. The identification of the germline mutation in a patient with a primary form of cancer portends an increased risk of developing additional primary tumours This case report describes the clinical case of MPCs (breast cancer and leiomyosarcoma) in a patient without a clearly burdened. Case presentation A 55-year-old Caucasian patient received complex treatment for left breast cancer and leiomyosarcoma of soft tissues of the left thigh. From the history of the disease, the patient sought medical help in 2014 On examination, she was diagnosed with left breast cancer and leiomyosarcoma of soft tissue of the left thigh. The healthy son of the patient inherited both mutations in the heterozygous state (Fig. 2)

Discussion

Conclusion