Nasljedni karcinom dojke i jajnika - iskustva Kliničkog bolničkog centra Split

Aim: To investigate the clinical and pathohistological tumor characteristics, treatment, and treatment outcomes in patients with hereditary breast and ovarian cancer who were diagnosed, treated, and monitored at the University Hospital of Split from October 1999 to April 2021. Methods: The data were collected retrospectively from the medical history of 15 patients. They included the patient’s age at diagnosis, family history of malignancies, histological subtype, grade, breast cancer immunophenotype, stage of disease, status and types of BRCA mutations, type of surgical and oncological treatment, the specifics of metachronous bilateral breast cancers, the specifics of synchronous breast and ovarian cancers, and the outcome of treatment through overall survival (OS). Results: The median age of patients at the time of diagnosis of breast cancer was 53 years, and for ovarian cancer it was 56 years. A positive family history was confirmed in 13 patients (87%). All ovarian cancer patients had a high-grade serous histologic type, most often diagnosed in FIGO stages III and IV. Breast cancers were most commonly diagnosed in stages IA and IIA, with equally represented triple-negative and luminal immunophenotypes. The most common mutation was BRCA1 c.5266dup. The median OS of our patients was not reached. Conclusion: The clinical features of patients, pathohistological characteristics of tumors, and treatment outcomes in our study population are comparable with reports in the literature, respecting the specifics of different nations and races.Cilj: Istražiti kliničke osobitosti, patohistološke karakteristike tumora, način i ishode liječenja bolesnica s nasljednim karcinomom dojke i jajnika koje su dijagnosticirane, liječene i praćene u Kliničkom bolničkom centru Split od listopada 1999. do travnja 2021. godine. Metode: Podatci su prikupljeni retrospektivno iz povijesti bolesti 15 bolesnica. Uključivali su dob bolesnica kod dijagnoze bolesti, obiteljsku anamnezu za zloćudne bolesti, histološki podtip, gradus, imunofenotip karcinoma dojke, stadij bolesti, status i tip BRCA mutacija, osobitosti kirurškog i onkološkog liječenja, specifičnosti metakrono nastalih bilateralnih karcinoma dojke, specifičnosti sinkrono nastalih karcinoma dojke i jajnika te ishod liječenja kroz ukupno preživljenje. Rezultati: Medijan dobi bolesnica u trenutku dijagnoze raka dojke bio je 53 godine, a za karcinom jajnika 56 godina. Pozitivna obiteljska anamneza potvrđena je u 13 (87%) bolesnica. Karcinom jajnika je kod svih bolesnica bio seroznog papilarnog histološkog podtipa visokog gradusa i najčešće dijagnosticiran u FIGO stadiju III i IV. Karcinom dojke je najčešće dijagnosticiran u stadiju IA i IIA, jednake zastupljenosti trostruko negativnog i luminalnog imunofenotipa. Najčešća mutacija je bila BRCA1 c.5266dup. Medijan ukupnog preživljenja naših bolesnica nije dosegnut. Zaključak: Kliničke osobitosti bolesnica, patohistološke karakteristike tumora kao i ishodi liječenja u našoj studijskoj populaciji su usporedivi s izvješćima iz literature, respektirajući specifičnosti različitih naroda i rasa

Hereditary breast and ovarian cancer : University Hospital of Split experiences

CILJ ISTRAŽIVANJA: Istražiti kliničke osobitosti bolesnica, karakteristike bolesti, način liječenja i ishode liječenja kod bolesnica s nasljednim karcinomom dojke i jajnika koje su dijagnosticirane, liječene i praćene u Klinici za onkologiju i radioterapiju Kliničkog bolničkog centra Split u razdoblju od 01. listopada 1999. do 01. travnja 2021. godine. ISPITANICE I METODE: Retrospektivno su prikupljeni podatci iz povijesti bolesti 15 bolesnica oboljelih od nasljednog karcinoma dojke i jajnika u razdoblju od 01. listopada 1999. do 01. travnja 2021. godine. Prikupljeni podatci uključivali su dob bolesnice u trenutku dijagnoze bolesti, obiteljsku anamnezu za zloćudne bolesti, primarno sijelo bolesti, histološki podtip, stupanj diferenciranosti tumora, imunofenotip karcinoma dojke, stadij bolesti, BRCA status, vrste BRCA mutacija, osobitosti kirurškog i onkološkog liječenja, specifičnosti metakrono nastalih bilateralnih karcinoma dojke, specifičnosti sinkrono nastalih karcinoma dojke i jajnika te ishod liječenja kroz ukupno preživljenje. REZULTATI: Medijan dobi bolesnica u trenutku dijagnoze raka dojke iznosio je 53 godine, a za karcinom jajnika 56 godina. Pozitivna obiteljska anamneza potvrđena je u 13 (87%) bolesnica. Karcinom jajnika se najčešće (93%) dijagnosticirao u FIGO stadiju III i IV. Primarno sijelo bolesti u bolesnica s rakom jajnika, jajovoda i potrbušnice bio je jajnik (67%), seroznog papilarnog histološkog podtipa gradusa 3 (100%). Karcinom dojke se najčešće dijagnosticirao u stadiju IA i IIA (67%), bio je najčešće duktanog histološkog podtipa (80%) gradusa 3 (56%), jednake zastupljenosti trostruko negativnog i luminalnog imunofenotipa (46,7% za oba imunofenotipa). Sve bolesnice su imale potvrđenu BRCA mutaciju, s prevagom mutacija BRCA1 gena (80%). Najčešća BRCA mutacija u našoj studijskoj populaciji je BRCA1m c.5266dupC i detektirana je kod 6 bolesnica. Bolesnice (87%) s karcinomom jajnika liječene su inicijalno primarnom citoredukcijom (87%) koju je slijedila kemoterapija temeljenu na platini. Olaparib je ordiniran u 7 (46,7%) bolesnica. Sve bolesnice s karcinomom dojke liječene su inicijalno kirurškim putem, a ovisno o stadiju i imunofenotipu definirano je adjuvantno liječenje kemoterapijom (93%), radioterapijom (60%) i hormonskom terapijom (60%). Medijan ukupnog preživljenja bolesnica s nasljednim karcinomom dojke i jajnika na našem uzorku nije dosegnut. Četiri bolesnice s metakronim bilateranim rakom dojke su imale pozitivnu obiteljsku anamnezu na rak dojke. U svih bolesnica su najprije dijagnosticirani karcinomi dojke, a potom karcinom jajnika. Najčešća BRCA mutacija u bolesnica s bilateralnim karcinomom dojke bila je BRCA1m c.5266dupC. Dvije bolesnice su sinkrono razvile karcinom dojke i jajnika. Bolesnica s BRCA1 mutacijom c.843_846delCTCA uz VUS BRCA2 gena razvila je trostruko negativni rak dojke, a druga bolesnica s BRCA2 mutacijom luminalni B HER2 negativni rak dojke. ZAKLJUČAK: Kliničke osobitosti bolesnica s nasljednim karcinom dojke i jajnika, patohistološke osobitosti tumora kao i ishodi liječenja u našoj studijskoj populaciji su usporedivi s podatcima kliničkih studija objavljenih u dostupnoj svjetskoj medicinskoj literaturi, respektirajući specifičnosti različitih naroda i rasa.OBJECTIVE: To investigate the clinical characteristics of patients, disease characteristics, treatment and treatment outcomes in patients with hereditary breast and ovarian cancer who were diagnosed, treated and monitored at the Clinic of Oncology and Radiotherapy of the University Hospital of Split in the period from October 1, 1999 to April 1 2021. PATIENTS AND METHODS: The data were collected retrospectively from the medical history of 15 patients with hereditary breast and ovarian cancer in the period from October 1, 1999 to April 1, 2021. Data collected included age of patient at diagnosis, family history of malignancies, primary disease, histological subtype, degree of tumor differentiation, breast cancer immunophenotype, stage of disease, BRCA status, types of BRCA mutations, features of surgical and oncological treatment, specific of metachronous bilateral breast cancers, the specifics of synchronous breast and ovarian cancers and the outcome of treatment through overall survival. RESULTS: The median age of patients at the time of diagnosis of breast cancer was 53 years, and for ovarian cancer 56 years. A positive family history was confirmed in 13 (87%) patients. Ovarian cancer was most often (93%) diagnosed in FIGO stage III and IV. The primary site of disease in patients with ovarian, fallopian, and peritoneal cancers was the ovary (67%), serous papillary histological subtype grade 3 (100%). Breast cancer was most commonly diagnosed in stage IA and IIA (67%), most often duct histological subtype (80%) grade 3 (56%), equal representation of triple-negative and luminal immunophenotype (46.7% for both immunophenotypes). All patients had a confirmed BRCA mutation, with a predominance of BRCA1 gene mutations (80%). The most common BRCA mutation in our study population is BRCA1m c.5266dupC detected in 6 patients. Patients (87%) with ovarian cancer were initially treated with primary cytoreduction (87%) followed by platinum-based chemotherapy. Olaparib was administered to 7 (46.7%) patients. All patients with breast cancer were initially treated surgically, and depending on the stage and immunophenotype, adjuvant treatment with chemotherapy (93%), radiotherapy (60%) and hormone therapy (60%) was defined. The median overall survival of patients with hereditary breast and ovarian cancer in our sample was not reached. Four patients with metachronic bilateral breast cancer had a positive family history of breast cancer. All patients were diagnosed with breast cancer first and then ovarian cancer. The most common BRCA mutation in patients with bilateral breast cancer was BRCA1m c.5266dupC. Two patients synchronously developed breast and ovarian cancer. A patient with the BRCA1 mutation c.843_846delCTCA in addition to the VUS BRCA2 gene developed triple-negative breast cancer, and another patient with the BRCA2 mutation developed luminal B HER2-negative breast cancer. CONCLUSION: The clinical features of patients with hereditary breast and ovarian cancer, pathohistological features of tumors and treatment outcomes in our study population are comparable with data from clinical studies published in the available world medical literature, respecting the specifics of different nations and races

Hereditary breast and ovarian cancer : University Hospital of Split experiences

CILJ ISTRAŽIVANJA: Istražiti kliničke osobitosti bolesnica, karakteristike bolesti, način liječenja i ishode liječenja kod bolesnica s nasljednim karcinomom dojke i jajnika koje su dijagnosticirane, liječene i praćene u Klinici za onkologiju i radioterapiju Kliničkog bolničkog centra Split u razdoblju od 01. listopada 1999. do 01. travnja 2021. godine. ISPITANICE I METODE: Retrospektivno su prikupljeni podatci iz povijesti bolesti 15 bolesnica oboljelih od nasljednog karcinoma dojke i jajnika u razdoblju od 01. listopada 1999. do 01. travnja 2021. godine. Prikupljeni podatci uključivali su dob bolesnice u trenutku dijagnoze bolesti, obiteljsku anamnezu za zloćudne bolesti, primarno sijelo bolesti, histološki podtip, stupanj diferenciranosti tumora, imunofenotip karcinoma dojke, stadij bolesti, BRCA status, vrste BRCA mutacija, osobitosti kirurškog i onkološkog liječenja, specifičnosti metakrono nastalih bilateralnih karcinoma dojke, specifičnosti sinkrono nastalih karcinoma dojke i jajnika te ishod liječenja kroz ukupno preživljenje. REZULTATI: Medijan dobi bolesnica u trenutku dijagnoze raka dojke iznosio je 53 godine, a za karcinom jajnika 56 godina. Pozitivna obiteljska anamneza potvrđena je u 13 (87%) bolesnica. Karcinom jajnika se najčešće (93%) dijagnosticirao u FIGO stadiju III i IV. Primarno sijelo bolesti u bolesnica s rakom jajnika, jajovoda i potrbušnice bio je jajnik (67%), seroznog papilarnog histološkog podtipa gradusa 3 (100%). Karcinom dojke se najčešće dijagnosticirao u stadiju IA i IIA (67%), bio je najčešće duktanog histološkog podtipa (80%) gradusa 3 (56%), jednake zastupljenosti trostruko negativnog i luminalnog imunofenotipa (46,7% za oba imunofenotipa). Sve bolesnice su imale potvrđenu BRCA mutaciju, s prevagom mutacija BRCA1 gena (80%). Najčešća BRCA mutacija u našoj studijskoj populaciji je BRCA1m c.5266dupC i detektirana je kod 6 bolesnica. Bolesnice (87%) s karcinomom jajnika liječene su inicijalno primarnom citoredukcijom (87%) koju je slijedila kemoterapija temeljenu na platini. Olaparib je ordiniran u 7 (46,7%) bolesnica. Sve bolesnice s karcinomom dojke liječene su inicijalno kirurškim putem, a ovisno o stadiju i imunofenotipu definirano je adjuvantno liječenje kemoterapijom (93%), radioterapijom (60%) i hormonskom terapijom (60%). Medijan ukupnog preživljenja bolesnica s nasljednim karcinomom dojke i jajnika na našem uzorku nije dosegnut. Četiri bolesnice s metakronim bilateranim rakom dojke su imale pozitivnu obiteljsku anamnezu na rak dojke. U svih bolesnica su najprije dijagnosticirani karcinomi dojke, a potom karcinom jajnika. Najčešća BRCA mutacija u bolesnica s bilateralnim karcinomom dojke bila je BRCA1m c.5266dupC. Dvije bolesnice su sinkrono razvile karcinom dojke i jajnika. Bolesnica s BRCA1 mutacijom c.843_846delCTCA uz VUS BRCA2 gena razvila je trostruko negativni rak dojke, a druga bolesnica s BRCA2 mutacijom luminalni B HER2 negativni rak dojke. ZAKLJUČAK: Kliničke osobitosti bolesnica s nasljednim karcinom dojke i jajnika, patohistološke osobitosti tumora kao i ishodi liječenja u našoj studijskoj populaciji su usporedivi s podatcima kliničkih studija objavljenih u dostupnoj svjetskoj medicinskoj literaturi, respektirajući specifičnosti različitih naroda i rasa.OBJECTIVE: To investigate the clinical characteristics of patients, disease characteristics, treatment and treatment outcomes in patients with hereditary breast and ovarian cancer who were diagnosed, treated and monitored at the Clinic of Oncology and Radiotherapy of the University Hospital of Split in the period from October 1, 1999 to April 1 2021. PATIENTS AND METHODS: The data were collected retrospectively from the medical history of 15 patients with hereditary breast and ovarian cancer in the period from October 1, 1999 to April 1, 2021. Data collected included age of patient at diagnosis, family history of malignancies, primary disease, histological subtype, degree of tumor differentiation, breast cancer immunophenotype, stage of disease, BRCA status, types of BRCA mutations, features of surgical and oncological treatment, specific of metachronous bilateral breast cancers, the specifics of synchronous breast and ovarian cancers and the outcome of treatment through overall survival. RESULTS: The median age of patients at the time of diagnosis of breast cancer was 53 years, and for ovarian cancer 56 years. A positive family history was confirmed in 13 (87%) patients. Ovarian cancer was most often (93%) diagnosed in FIGO stage III and IV. The primary site of disease in patients with ovarian, fallopian, and peritoneal cancers was the ovary (67%), serous papillary histological subtype grade 3 (100%). Breast cancer was most commonly diagnosed in stage IA and IIA (67%), most often duct histological subtype (80%) grade 3 (56%), equal representation of triple-negative and luminal immunophenotype (46.7% for both immunophenotypes). All patients had a confirmed BRCA mutation, with a predominance of BRCA1 gene mutations (80%). The most common BRCA mutation in our study population is BRCA1m c.5266dupC detected in 6 patients. Patients (87%) with ovarian cancer were initially treated with primary cytoreduction (87%) followed by platinum-based chemotherapy. Olaparib was administered to 7 (46.7%) patients. All patients with breast cancer were initially treated surgically, and depending on the stage and immunophenotype, adjuvant treatment with chemotherapy (93%), radiotherapy (60%) and hormone therapy (60%) was defined. The median overall survival of patients with hereditary breast and ovarian cancer in our sample was not reached. Four patients with metachronic bilateral breast cancer had a positive family history of breast cancer. All patients were diagnosed with breast cancer first and then ovarian cancer. The most common BRCA mutation in patients with bilateral breast cancer was BRCA1m c.5266dupC. Two patients synchronously developed breast and ovarian cancer. A patient with the BRCA1 mutation c.843_846delCTCA in addition to the VUS BRCA2 gene developed triple-negative breast cancer, and another patient with the BRCA2 mutation developed luminal B HER2-negative breast cancer. CONCLUSION: The clinical features of patients with hereditary breast and ovarian cancer, pathohistological features of tumors and treatment outcomes in our study population are comparable with data from clinical studies published in the available world medical literature, respecting the specifics of different nations and races

Hereditary breast and ovarian cancer : University Hospital of Split experiences

CILJ ISTRAŽIVANJA: Istražiti kliničke osobitosti bolesnica, karakteristike bolesti, način liječenja i ishode liječenja kod bolesnica s nasljednim karcinomom dojke i jajnika koje su dijagnosticirane, liječene i praćene u Klinici za onkologiju i radioterapiju Kliničkog bolničkog centra Split u razdoblju od 01. listopada 1999. do 01. travnja 2021. godine. ISPITANICE I METODE: Retrospektivno su prikupljeni podatci iz povijesti bolesti 15 bolesnica oboljelih od nasljednog karcinoma dojke i jajnika u razdoblju od 01. listopada 1999. do 01. travnja 2021. godine. Prikupljeni podatci uključivali su dob bolesnice u trenutku dijagnoze bolesti, obiteljsku anamnezu za zloćudne bolesti, primarno sijelo bolesti, histološki podtip, stupanj diferenciranosti tumora, imunofenotip karcinoma dojke, stadij bolesti, BRCA status, vrste BRCA mutacija, osobitosti kirurškog i onkološkog liječenja, specifičnosti metakrono nastalih bilateralnih karcinoma dojke, specifičnosti sinkrono nastalih karcinoma dojke i jajnika te ishod liječenja kroz ukupno preživljenje. REZULTATI: Medijan dobi bolesnica u trenutku dijagnoze raka dojke iznosio je 53 godine, a za karcinom jajnika 56 godina. Pozitivna obiteljska anamneza potvrđena je u 13 (87%) bolesnica. Karcinom jajnika se najčešće (93%) dijagnosticirao u FIGO stadiju III i IV. Primarno sijelo bolesti u bolesnica s rakom jajnika, jajovoda i potrbušnice bio je jajnik (67%), seroznog papilarnog histološkog podtipa gradusa 3 (100%). Karcinom dojke se najčešće dijagnosticirao u stadiju IA i IIA (67%), bio je najčešće duktanog histološkog podtipa (80%) gradusa 3 (56%), jednake zastupljenosti trostruko negativnog i luminalnog imunofenotipa (46,7% za oba imunofenotipa). Sve bolesnice su imale potvrđenu BRCA mutaciju, s prevagom mutacija BRCA1 gena (80%). Najčešća BRCA mutacija u našoj studijskoj populaciji je BRCA1m c.5266dupC i detektirana je kod 6 bolesnica. Bolesnice (87%) s karcinomom jajnika liječene su inicijalno primarnom citoredukcijom (87%) koju je slijedila kemoterapija temeljenu na platini. Olaparib je ordiniran u 7 (46,7%) bolesnica. Sve bolesnice s karcinomom dojke liječene su inicijalno kirurškim putem, a ovisno o stadiju i imunofenotipu definirano je adjuvantno liječenje kemoterapijom (93%), radioterapijom (60%) i hormonskom terapijom (60%). Medijan ukupnog preživljenja bolesnica s nasljednim karcinomom dojke i jajnika na našem uzorku nije dosegnut. Četiri bolesnice s metakronim bilateranim rakom dojke su imale pozitivnu obiteljsku anamnezu na rak dojke. U svih bolesnica su najprije dijagnosticirani karcinomi dojke, a potom karcinom jajnika. Najčešća BRCA mutacija u bolesnica s bilateralnim karcinomom dojke bila je BRCA1m c.5266dupC. Dvije bolesnice su sinkrono razvile karcinom dojke i jajnika. Bolesnica s BRCA1 mutacijom c.843_846delCTCA uz VUS BRCA2 gena razvila je trostruko negativni rak dojke, a druga bolesnica s BRCA2 mutacijom luminalni B HER2 negativni rak dojke. ZAKLJUČAK: Kliničke osobitosti bolesnica s nasljednim karcinom dojke i jajnika, patohistološke osobitosti tumora kao i ishodi liječenja u našoj studijskoj populaciji su usporedivi s podatcima kliničkih studija objavljenih u dostupnoj svjetskoj medicinskoj literaturi, respektirajući specifičnosti različitih naroda i rasa.OBJECTIVE: To investigate the clinical characteristics of patients, disease characteristics, treatment and treatment outcomes in patients with hereditary breast and ovarian cancer who were diagnosed, treated and monitored at the Clinic of Oncology and Radiotherapy of the University Hospital of Split in the period from October 1, 1999 to April 1 2021. PATIENTS AND METHODS: The data were collected retrospectively from the medical history of 15 patients with hereditary breast and ovarian cancer in the period from October 1, 1999 to April 1, 2021. Data collected included age of patient at diagnosis, family history of malignancies, primary disease, histological subtype, degree of tumor differentiation, breast cancer immunophenotype, stage of disease, BRCA status, types of BRCA mutations, features of surgical and oncological treatment, specific of metachronous bilateral breast cancers, the specifics of synchronous breast and ovarian cancers and the outcome of treatment through overall survival. RESULTS: The median age of patients at the time of diagnosis of breast cancer was 53 years, and for ovarian cancer 56 years. A positive family history was confirmed in 13 (87%) patients. Ovarian cancer was most often (93%) diagnosed in FIGO stage III and IV. The primary site of disease in patients with ovarian, fallopian, and peritoneal cancers was the ovary (67%), serous papillary histological subtype grade 3 (100%). Breast cancer was most commonly diagnosed in stage IA and IIA (67%), most often duct histological subtype (80%) grade 3 (56%), equal representation of triple-negative and luminal immunophenotype (46.7% for both immunophenotypes). All patients had a confirmed BRCA mutation, with a predominance of BRCA1 gene mutations (80%). The most common BRCA mutation in our study population is BRCA1m c.5266dupC detected in 6 patients. Patients (87%) with ovarian cancer were initially treated with primary cytoreduction (87%) followed by platinum-based chemotherapy. Olaparib was administered to 7 (46.7%) patients. All patients with breast cancer were initially treated surgically, and depending on the stage and immunophenotype, adjuvant treatment with chemotherapy (93%), radiotherapy (60%) and hormone therapy (60%) was defined. The median overall survival of patients with hereditary breast and ovarian cancer in our sample was not reached. Four patients with metachronic bilateral breast cancer had a positive family history of breast cancer. All patients were diagnosed with breast cancer first and then ovarian cancer. The most common BRCA mutation in patients with bilateral breast cancer was BRCA1m c.5266dupC. Two patients synchronously developed breast and ovarian cancer. A patient with the BRCA1 mutation c.843_846delCTCA in addition to the VUS BRCA2 gene developed triple-negative breast cancer, and another patient with the BRCA2 mutation developed luminal B HER2-negative breast cancer. CONCLUSION: The clinical features of patients with hereditary breast and ovarian cancer, pathohistological features of tumors and treatment outcomes in our study population are comparable with data from clinical studies published in the available world medical literature, respecting the specifics of different nations and races

Hereditary breast and ovarian cancer – University Hospital of Split experiences

Aim: To investigate the clinical and pathohistological tumor characteristics, treatment, and treatment outcomes in patients with hereditary breast and ovarian cancer who were diagnosed, treated, and monitored at the University Hospital of Split from October 1999 to April 2021. Methods: The data were collected retrospectively from the medical history of 15 patients. They included the patient’s age at diagnosis, family history of malignancies, histological subtype, grade, breast cancer immunophenotype, stage of disease, status and types of BRCA mutations, type of surgical and oncological treatment, the specifics of metachronous bilateral breast cancers, the specifics of synchronous breast and ovarian cancers, and the outcome of treatment through overall survival (OS). Results: The median age of patients at the time of diagnosis of breast cancer was 53 years, and for ovarian cancer it was 56 years. A positive family history was confirmed in 13 patients (87%). All ovarian cancer patients had a high-grade serous histologic type, most often diagnosed in FIGO stages III and IV. Breast cancers were most commonly diagnosed in stages IA and IIA, with equally represented triple-negative and luminal immunophenotypes. The most common mutation was BRCA1 c.5266dup. The median OS of our patients was not reached. Conclusion: The clinical features of patients, pathohistological characteristics of tumors, and treatment outcomes in our study population are comparable with reports in the literature, respecting the specifics of different nations and races