Clinical and morphological features of breast tumors with PIK3CA mutations in Russian patients: Observational study
- 作者: Sokolova T.1, Solov'eva T.1, Aleksakhina S.1,2, Janus G.1,2, Goryainova A.3, Gluzman M.4,5, Orlova R.4,6, Stukan A.3, Zukov R.7, Zyuzyukina A.7, Murunova Y.8, Sultanbaev A.9, Vorobeva E.10, Mikhaevich L.4, Pyliv V.11, Lysenko A.12, Khachmamuk Z.3, Kozlov A.13, Bakharev S.14, Parsyan S.4, Rossokha E.14, Osidze L.4, Shumskaya I.15, Agaeva A.16, Kasmynina T.17, Klimenko V.1, Akhmetgareeva K.18, Vakhitova A.5,4, Chakhkieva M.19, Dmitriev V.20, Bakshun Y.21, Vasilyev A.22, Gasimly D.23, Kravchenko N.24, Maksimov D.25, Nesterova A.26,27, Sharvashidze I.4, Gadzaova C.28, Rakhmankulova G.16, Khamgokov Z.29, Amirkhanova I.14, Bembeeva L.4, Vladimirov V.30, Petrenko O.31, Ruskova N.32, Serikova E.4, Subbotina K.33, Tkachenko S.34, Chang V.35, Erdniev S.36, Barbara V.37, Vasilevskaya A.38, Mikheeva Y.39, Popova N.40, Startseva E.16, Fateeva A.41, Yukalchuk D.12, Grechkina A.41, Musaeva K.42, Odintsova S.43, Stel'makh A.44, Khabibulaeva P.42, Khlobystina A.45, Shvaiko K.4, Basova E.17, Bogomolova I.46, Bolieva M.28, Goldberg V.40, Kibisheva M.29, Menshikov K.47, Ryazanov D.48, Stepanova M.49, Udalova Y.50, Shkradyuk A.51, Chapko Y.16, Shchukina A.52, Khabriev I.53, Kirtbaya D.54, Degtyarev A.54, Epkhiev A.28, Tyugina Y.12, Murachuev M.55, Togo A.1,56, Ievleva A.1,56, Imyanitov E.1,2,57
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隶属关系:
- Petrov National Research Center of Oncology
- Saint Petersburg State Pediatric Medical University
- Clinical Oncological Dispensary №1
- City Clinical Oncology Dispensary
- Saint Petersburg University
- University
- Voino-Yasenetskii Krasnoyarsk State Medical University
- Surgut District Clinical Hospital
- Republican Clinical Oncology Dispensary
- Chelyabinsk Regional Clinical Center of Oncology and Nuclear Medicine
- District Clinical Hospital
- Regional Oncological Dispensary
- Regional Clinical Oncological Dispensary
- Altai Regional Oncological Dispensary
- Nizhny Novgorod Regional Clinical Oncological Dispensary
- Arkhangelsk Clinical Oncological Dispensary
- Oncological Dispensary, Birobidzhan
- Federal Scientific Clinical Center for Medical Radiology and Oncology
- Vedzizhev Republican Oncological Dispensary
- Belgorod Oncological Dispensary
- Kostroma Oncological Dispensary
- Orenburg Regional Clinical Oncological Dispensary
- Krasnoyarsk Regional Clinical Oncological Dispensary
- Regional Cancer Dispensary
- Tver Regional Clinical Oncological Dispensary
- Segal Republican Clinical Oncological Dispensary
- Kazan Federal University
- Republican Oncological Dispensary, Vladikavkaz
- Republican Oncological Dispensary, Nalchik
- Pyatigorsk Interdistrict Oncological Dispensary
- Central City Clinical Hospital
- Kostroma Regional Oncological
- Republican Oncological Dispensary, Petrozavodsk
- Kaluga Regional Clinical Oncological Dispensary
- Regional Oncological Clinical Dispensary
- Leningrad Regional Clinical Hospital
- Regional Clinical Hospital
- Moscow Regional Oncological Dispensary
- Saint Luke's Clinical Hospital
- Tomsk National Research Medical Center
- Primorsky Regional Oncological Dispensary
- Republican Oncological Dispensary, Grozny
- EuroCityClinic
- Murmansk Regional Oncological Dispensary
- City Clinical Oncology Dispensary, Saint Petersburg
- Federal Scientific and Clinical Center for Medical Radiology and Oncology
- Republican Clinical Oncological Dispensary
- Regional Clinical Oncological Dispensary, Ryazan
- Clinical Scientific and Practical Center for Specialised Types of Medical Care (Oncological)
- Oncological Dispensary, Taganrog
- Efetov Crimean Republican Oncological Clinical Dispensary
- Tula Regional Clinical Oncological Dispensary
- Republican Oncological Dispensary, Nazran
- Oncological Dispensary №2
- Republican Cancer Center
- State Pediatric Medical University
- Mechnikov North-Western State Medical University
- 期: 卷 24, 编号 1 (2022)
- 页面: 12-23
- 栏目: CLINICAL ONCOLOGY
- URL: https://journals.rcsi.science/1815-1434/article/view/106754
- DOI: https://doi.org/10.26442/8151434.2022.1.201435
- ID: 106754
如何引用文章
详细
Background. By 2020, breast cancer (BC) has become the most frequent malignancy in the world. The most common type of BC is HR+/HER2-negative cancer,25–40% of which harbors PIK3CA mutations that affect the catalytic subunit of the PI3K protein. PIK3CA alterations are actionable, as such neoplasms can be treated with a combination of fulvestrant and the PI3K inhibitor alpelisib. As PIK3CA mutations have an extremely versatile effect on the characteristics of a tumor cell, numerous associations of PIK3CA mutations and various clinico-pathological characteristics of BC can be traced.
Aim. Our aim was to clarify the information on the frequency and spectrum of PIK3CA mutations in Russian patients with HR+/HER2- advanced BC, and to study the association of PIK3CA mutations with clinical and pathological parameters of BC.
Materials and methods. Tissue samples from 694 patients with HR+/HER2- advanced BC (mixed population of primary metastatic and relapsed tumors) who received any line of anti-cancer treatment in Dec 2020 to June 2021 in Russian Federation were analyzed by high-resolution melting, allele-specific PCR, digital droplet PCR and Sanger sequencing (exons 7,9, and 20 of the PIK3CA gene). Mutation rates in different BC subgroups were compared using the Fisher’s exact test. The age at diagnosis in patients with different PIK3CA status was compared using the Mann–Whitney U-test. The relationship between the PIK3CA status and the degree of tumor differentiation was compared using the Cochrane–Armitage test for trends. Luminal A and B BC expression subtypes were distinguished with surrogate IHC markers according to St.-Gallen recommendations (2013).
Results. Mutations were identified in 220/694 (32%) BC patients. The three most frequent missense substitutions in the PIK3CA gene (p.E542K, p.E545K, and p.H1047R) accounted for 190/220 (86%) mutations. Associations of PIK3CA mutations with luminal A subtype of BC, low proliferation index, small size of the primary tumor, and absence of signs of hereditary cancer were revealed. Associations of mutations in the kinase domain of PIK3CA (p.H1047R) with late recurrence of locally advanced BC and with non-Slavic ethnic origin of patients were found.
Conclusion. PIK3CA mutation rate of 32% confirms high prevalence of mutation in Russian population, with some differences reflecting the ethnic origin of patients.
作者简介
Tatyana Sokolova
Petrov National Research Center of Oncology
Email: stretanya@yandex.ru
ORCID iD: 0000-0002-0537-7478
Oncologist
俄罗斯联邦, Saint PetersburgTatyana Solov'eva
Petrov National Research Center of Oncology
Email: tatab0x@yandex.ru
oncologist
俄罗斯联邦, Saint PetersburgSvetlana Aleksakhina
Petrov National Research Center of Oncology; Saint Petersburg State Pediatric Medical University
Email: abyshevasv@gmail.com
ORCID iD: 0000-0002-2149-7728
oncologist
俄罗斯联邦, Saint Petersburg; Saint PetersburgGrigorii Janus
Petrov National Research Center of Oncology; Saint Petersburg State Pediatric Medical University
Email: octavedoctor@yandex.ru
ORCID iD: 0000-0002-9844-4536
oncologist
俄罗斯联邦, Saint Petersburg; Saint PetersburgAlla Goryainova
Clinical Oncological Dispensary №1
Email: mashelueva@yandex.ru
ORCID iD: 0000-0001-7127-7945
Department Head, oncologist
俄罗斯联邦, KrasnodarMark Gluzman
City Clinical Oncology Dispensary; Saint Petersburg University
Email: lok2008@list.ru
ORCID iD: 0000-0002-8965-8364
oncologist, Assoc. cafe oncology medical faculty
俄罗斯联邦, Saint Petersburg; Saint PetersburgRashida Orlova
City Clinical Oncology Dispensary; University
Email: orlova_rashida@mail.ru
ORCID iD: 0000-0003-4447-9458
D. Sci. (Med.), Prof., City Clinical Oncology Dispensary
俄罗斯联邦, Saint Petersburg; Saint PetersburgAnastasiya Stukan
Clinical Oncological Dispensary №1
Email: jolie86@bk.ru
ORCID iD: 0000-0002-0698-7710
Cand. Sci. (Med.), Clinical Oncological Dispensary
俄罗斯联邦, KrasnodarRuslan Zukov
Voino-Yasenetskii Krasnoyarsk State Medical University
Email: zukov_rus@mail.ru
ORCID iD: 0000-0002-7210-3020
D. Sci. (Med.), Prof.
俄罗斯联邦, KrasnoyarskAlena Zyuzyukina
Voino-Yasenetskii Krasnoyarsk State Medical University
Email: alena-vz@mail.ru
ORCID iD: 0000-0002-6758-4800
Cand. Sci. (Med.)
俄罗斯联邦, KrasnoyarskYulia Murunova
Surgut District Clinical Hospital
Email: rkodrb@yandex.ru
ORCID iD: 0000-0003-0299-980X
Cand. Sci. (Med.)
俄罗斯联邦, SurgutAleksandr Sultanbaev
Republican Clinical Oncology Dispensary
Email: rkodrb@yandex.ru
ORCID iD: 0000-0003-0996-5995
Cand. Sci. (Med.)
俄罗斯联邦, UfaElena Vorobeva
Chelyabinsk Regional Clinical Center of Oncology and Nuclear Medicine
Email: vorobeva.elena.doc@mail.ru
ORCID iD: 0000-0003-2317-9691
oncologist
俄罗斯联邦, ChelyabinskLeonid Mikhaevich
City Clinical Oncology Dispensary
Email: 9119484518m@gmail.com
ORCID iD: 0000-0003-0029-7441
oncologist
俄罗斯联邦, Saint PetersburgVictoria Pyliv
District Clinical Hospital
Email: 7777@86.ru
ORCID iD: 0000-0003-0475-0872
oncologist
俄罗斯联邦, Khanty-MansiyskAnna Lysenko
Regional Oncological Dispensary
Email: anyutadoctor@yandex.ru
oncologist
俄罗斯联邦, StavropolZarema Khachmamuk
Clinical Oncological Dispensary №1
Email: zarema2332@icloud.com
ORCID iD: 0000-0001-7745-4631
oncologis
俄罗斯联邦, KrasnodarAndrey Kozlov
Regional Clinical Oncological Dispensary
Email: andrei.kozlov88@gmail.com
oncologist
俄罗斯联邦, TulaSergey Bakharev
Altai Regional Oncological Dispensary
Email: bachero@mail.ru
ORCID iD: 0000-0003-0429-8804
Department Head, pathologist
俄罗斯联邦, BarnaulShahen Parsyan
City Clinical Oncology Dispensary
Email: parsian@yandex.ru
ORCID iD: 0000-0003-1557-3736
oncologist
俄罗斯联邦, Saint PetersburgElena Rossokha
Altai Regional Oncological Dispensary
Email: rossokha_e@mail.ru
ORCID iD: 0000-0002-5303-3012
Cand. Sci. (Med.)
俄罗斯联邦, BarnaulLeri Osidze
City Clinical Oncology Dispensary
Email: dlinniiparahod@gmail.com
ORCID iD: 0000-0002-2500-7730
oncologist
俄罗斯联邦, Saint PetersburgIrina Shumskaya
Nizhny Novgorod Regional Clinical Oncological Dispensary
Email: medicanns@mail.ru
oncologist, Head of the chemotherapy service
俄罗斯联邦, Nizhny NovgorodAnna Agaeva
Arkhangelsk Clinical Oncological Dispensary
Email: agaeva@onko29.ru
ORCID iD: 0000-0002-6121-274X
head pathological department
俄罗斯联邦, ArkhangelskTatiana Kasmynina
Oncological Dispensary, Birobidzhan
Email: stretanya@yandex.ru
oncologist
俄罗斯联邦, BirobidzhanVeronika Klimenko
Petrov National Research Center of Oncology
Email: veronika30081987@mail.ru
Cand. Sci. (Med.)
俄罗斯联邦, Saint PetersburgKamila Akhmetgareeva
Federal Scientific Clinical Center for Medical Radiology and Oncology
Email: dr.camilaakhmetgareeva@gmail.com
ORCID iD: 0000-0003-0773-1239
oncologist
俄罗斯联邦, DimitrovgradAlmira Vakhitova
Saint Petersburg University; City Clinical Oncology Dispensary
Email: alberdovna@mail.ru
ORCID iD: 0000-0003-1321-3657
Graduate Student
俄罗斯联邦, Saint Petersburg; Saint PetersburgMadina Chakhkieva
Vedzizhev Republican Oncological Dispensary
Email: nurulnabi77@mail.ru
oncologist
俄罗斯联邦, PlievoVadim Dmitriev
Belgorod Oncological Dispensary
Email: vadd@mail.ru
ORCID iD: 0000-0002-5523-5718
D. Sci. (Med.)
俄罗斯联邦, BelgorodYana Bakshun
Kostroma Oncological Dispensary
Email: mikobacteria@gmail.com
ORCID iD: 0000-0001-8584-6299
oncologist
俄罗斯联邦, KostromaAlexey Vasilyev
Orenburg Regional Clinical Oncological Dispensary
Email: orenonco.vasiliev@rambler.ru
ORCID iD: 0000-0003-0385-6798
oncologist, chemotherapist
俄罗斯联邦, OrenburgDunya Gasimly
Krasnoyarsk Regional Clinical Oncological Dispensary
Email: dgasymly@gmail.com
oncologist
俄罗斯联邦, KryzhanovskyNadezhda Kravchenko
Regional Cancer Dispensary
Email: n.kravchenko38@yandex.ru
oncologist
俄罗斯联邦, IrkutskDmitriy Maksimov
Tver Regional Clinical Oncological Dispensary
Email: dr.maksimovda@mail.ru
oncologist
俄罗斯联邦, TverAlfia Nesterova
Segal Republican Clinical Oncological Dispensary; Kazan Federal University
Email: haalfy@mail.ru
ORCID iD: 0000-0002-4880-4353
Cand. Sci. (Med.), Segal Republican Clinical Oncological Dispensary
俄罗斯联邦, Kazan; KazanIneza Sharvashidze
City Clinical Oncology Dispensary
Email: stretanya@yandex.ru
oncologist
俄罗斯联邦, Saint PetersburgChristina Gadzaova
Republican Oncological Dispensary, Vladikavkaz
Email: stretanya@yandex.ru
oncologist
俄罗斯联邦, Alanya, VladikavkazGalina Rakhmankulova
Arkhangelsk Clinical Oncological Dispensary
Email: magvai_29@mail.ru
oncologis
俄罗斯联邦, ArkhangelskZaur Khamgokov
Republican Oncological Dispensary, Nalchik
Email: zaur0779@inbox.ru
oncologist
俄罗斯联邦, NalchikIrina Amirkhanova
Altai Regional Oncological Dispensary
Email: kor3009@yandex.ru
Head of the polyclinic, oncologist
俄罗斯联邦, VologdaLudmila Bembeeva
City Clinical Oncology Dispensary
Email: bembeevaluda@rambler.ru
ORCID iD: 0000-0003-4473-3049
oncologist
俄罗斯联邦, Saint PetersburgVladimir Vladimirov
Pyatigorsk Interdistrict Oncological Dispensary
Email: vladvlad@megalog.ru
ORCID iD: 0000-0002-7375-8950
D. Sci. (Med.)
俄罗斯联邦, PyatigorskOleg Petrenko
Central City Clinical Hospital
Email: Petrenko-oleg78@mail.ru
ORCID iD: 0000-0002-6482-1698
oncologist
俄罗斯联邦, KaliningradNatalia Ruskova
Kostroma Regional Oncological
Email: natasha85doc@mail.ru
oncologist
俄罗斯联邦, KostromaEkaterina Serikova
City Clinical Oncology Dispensary
Email: e.serikova@gkod.org
ORCID iD: 0000-0001-6933-0030
oncologist
俄罗斯联邦, Saint PetersburgKsenia Subbotina
Republican Oncological Dispensary, Petrozavodsk
Email: Xenia.ksenia17.04@gmail.com
oncologist
俄罗斯联邦, PetrozavodskSvetlana Tkachenko
Kaluga Regional Clinical Oncological Dispensary
Email: sv0959@mail.ru
Department Head, oncologist, Kaluga Regional Clinical Oncological Dispensary
俄罗斯联邦, KalugaVictor Chang
Regional Oncological Clinical Dispensary
Email: ken_baxter@mail.ru
ORCID iD: 0000-0003-4799-2687
oncologist
俄罗斯联邦, TambovSanal Erdniev
Leningrad Regional Clinical Hospital
Email: oncosanal@list.ru
oncologist, Head of the polyclinic
俄罗斯联邦, Saint PetersburgVictoria Barbara
Regional Clinical Hospital
Email: barbara_vs@mail.ru
oncologist
俄罗斯联邦, KaliningradAnna Vasilevskaya
Moscow Regional Oncological Dispensary
Email: Annavasilevs@rambler.ru
Department Head, oncologist
俄罗斯联邦, BalashikhaYulia Mikheeva
Saint Luke's Clinical Hospital
Email: yuliya.mikheeva64@gmail.com
Cand. Sci. (Med.), Clinic of High Medical Technologies named after N.I. Pirogova, oncologist, head. oncology department
俄罗斯联邦, Saint PetersburgNataliya Popova
Tomsk National Research Medical Center
Email: popova75tomsk@mail.ru
ORCID iD: 0000-0001-5294-778X
Cand. Sci. (Med.)
俄罗斯联邦, TomskEkaterina Startseva
Arkhangelsk Clinical Oncological Dispensary
Email: stretanya@yandex.ru
oncologist
俄罗斯联邦, ArkhangelskAnastasia Fateeva
Primorsky Regional Oncological Dispensary
Email: ralise@bk.ru
Deputy Chief doctor, oncologist
俄罗斯联邦, VladivostokDenis Yukalchuk
Regional Oncological Dispensary
Email: dyuyu558@mail.ru
oncologis
俄罗斯联邦, IrkutskAnna Grechkina
Primorsky Regional Oncological Dispensary
Email: cindercis@mail.ru
oncologis
俄罗斯联邦, VladivostokKhedi Musaeva
Republican Oncological Dispensary, Grozny
Email: musaeva.onco@mail.ru
oncologist
俄罗斯联邦, GroznySvetlana Odintsova
EuroCityClinic
Email: odin-svet@yandex.ru
Cand. Sci. (Med.)
俄罗斯联邦, Saint PetersburgAlena Stel'makh
Murmansk Regional Oncological Dispensary
Email: stretanya@yandex.ru
oncologist
俄罗斯联邦, MurmanskPetimat Khabibulaeva
Republican Oncological Dispensary, Grozny
Email: stretanya@yandex.ru
oncologist
俄罗斯联邦, GroznyAlina Khlobystina
City Clinical Oncology Dispensary, Saint Petersburg
Email: stretanya@yandex.ru
oncologist
俄罗斯联邦, GroznyKseniya Shvaiko
City Clinical Oncology Dispensary
Email: stretanya@yandex.ru
oncologist
俄罗斯联邦, Saint PetersburgElena Basova
Oncological Dispensary, Birobidzhan
Email: stretanya@yandex.ru
oncologist
俄罗斯联邦, BirobidzhanIrina Bogomolova
Federal Scientific and Clinical Center for Medical Radiology and Oncology
Email: 73bogomolova@gmail.com
Department Head, oncologist
俄罗斯联邦, DimitrovgradMarina Bolieva
Republican Oncological Dispensary, Vladikavkaz
Email: marina-bolieva1985@mail.ru
D. Sci. (Med.), Prof., Tomsk National Research Medical Center
俄罗斯联邦, Alania, VladikavkazViktor Goldberg
Tomsk National Research Medical Center
Email: goldbergve@mail.ru
ORCID iD: 0000-0003-4753-5283
D. Sci. (Med.), Prof.
俄罗斯联邦, TomskMarianna Kibisheva
Republican Oncological Dispensary, Nalchik
Email: zareta.alix@yandex.ru
oncologis
俄罗斯联邦, NalchikKonstantin Menshikov
Republican Clinical Oncological Dispensary
Email: kmenshikov80@bk.ru
ORCID iD: 0000-0003-3734-2779
Cand. Sci. (Med.)
俄罗斯联邦, UfaDmitrii Ryazanov
Regional Clinical Oncological Dispensary, Ryazan
Email: stretanya@yandex.ru
oncologist
俄罗斯联邦, RyazanMariya Stepanova
Clinical Scientific and Practical Center for Specialised Types of Medical Care (Oncological)
Email: Stepanova100992@mail.ru
ORCID iD: 0000-0001-5331-1206
oncologis
俄罗斯联邦, Saint PetersburgYana Udalova
Oncological Dispensary, Taganrog
Email: stretanya@yandex.ru
oncologist
俄罗斯联邦, ТаганрогAleksandr Shkradyuk
Efetov Crimean Republican Oncological Clinical Dispensary
Email: stretanya@yandex.ru
Deputy Chief doctor, Efetov Crimean Republican Oncological Clinical Dispensary, chief non-staff oncologist
俄罗斯联邦, SimferopolYana Chapko
Arkhangelsk Clinical Oncological Dispensary
Email: stretanya@yandex.ru
oncologist
俄罗斯联邦, ArkhangelskAnna Shchukina
Tula Regional Clinical Oncological Dispensary
Email: stretanya@yandex.ru
oncologist
俄罗斯联邦, TulaIdris Khabriev
Republican Oncological Dispensary, Nazran
Email: oncoidris@mail.ru
oncologist
俄罗斯联邦, NazranDmitrii Kirtbaya
Oncological Dispensary №2
Email: doc.valikovich@yandex.ru
oncologist
俄罗斯联邦, SochiAlexey Degtyarev
Oncological Dispensary №2
Email: onko13@sochi.com
oncologist
俄罗斯联邦, SochiAleksandr Epkhiev
Republican Oncological Dispensary, Vladikavkaz
Email: aalibek74@mail.ru
Department Head, Republican Oncological Dispensary
俄罗斯联邦, Alania, VladikavkazYana Tyugina
Regional Oncological Dispensary
Email: iana.tiughina.90@mail.ru
oncologis
俄罗斯联邦, IvanovoMirza Murachuev
Republican Cancer Center
Email: mirza_myrachyev@mail.ru
oncologist
俄罗斯联邦, MahachkalaAleksandr Togo
Petrov National Research Center of Oncology; State Pediatric Medical University
Email: a_togo@mail.ru
oncologist
俄罗斯联邦, Saint Petersburg; Saint PetersburgAglaya Ievleva
Petrov National Research Center of Oncology; State Pediatric Medical University
Email: stretanya@yandex.ru
oncologist
俄罗斯联邦, Saint Petersburg; Saint PetersburgEvgenii Imyanitov
Petrov National Research Center of Oncology; Saint Petersburg State Pediatric Medical University; Mechnikov North-Western State Medical University
编辑信件的主要联系方式.
Email: evgeny@imyanitov.spb.ru
ORCID iD: 0000-0003-4529-7891
D. Sci. (Med.), Prof., Corr. Memb. RAS
俄罗斯联邦, Saint Petersburg; Saint Petersburg; Saint Petersburg参考
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