GÝRÝÞ ve AMAÇ: Gastrointestinal sistem, hematolenfoid neoplazilerin en sýk görüldüðü ekstranodal bölgedir. Bununla birlikte inflamatuar lezyonlar ve epiteliyal neoplazilere kýyasla oldukça nadir gözlenen bu grup neoplazilerde taný zorluklarý yaþanabilmektedir. Bu çalýþmada gastrointestinal sistemin sýk görülen hematolenfoid neoplazilerinin klinikopatolojik özelliklerini sunmayý, nadir görülen antitelere ise dikkat çekmeyi amaçladýk.
YÖNTEM ve GEREÇLER: Patoloji arþivimizden, 2014-2021 yýllarý arasýnda, gastrointestinal sistem infiltrasyonu ile hematolenfoid neoplazi tanýsý alan 46 hasta retrospektif olarak tespit edilmiþtir. Patoloji raporlarý yaný sýra demografik ve klinik verilere, endoskopi ve görüntüleme bulgularýna hastane bilgi sisteminden ulaþýlmýþtýr.
BULGULAR: Otuzaltý hastada primer odak gastrointestinal sistemdi. Dokuz hastada, gastrointestinal infiltrasyon sistemik hastalýðýn sekonder yayýlýmý olarak kabul edildi. Hastalardan birinde, mevcut verilerle primer veya sekonder hastalýk ayrýmý yapýlamadý. Ortalama yaþ 56 idi. Olgularýn yaklaþýk dörtte üçü (%73,9) endoskopik biyopsi ile taný aldý. Hastalarýn sýklýkla baþvuru sebebi nonspesifik gastrointestinal semptomlardý (%73,9). Barsak yerleþimli orgularda ise ileus tablosu ile karþýlaþýldý. En sýk taný diffüz büyük B hücreli lenfoma (n: 26), ardýndan MALT lenfomaydý (n: 6). Duodenal tip foliküler lenfoma tanýsý alan dört hastamýz mevcuttu. Nadir vakalarýmýz; IRF4 ile iliþkili büyük B hücreli lenfoma (n: 1), EBV pozitif büyük B hücreli lenfoma (n: 1), ekstrakaviter/solid varyant primer efüzyon lenfoma (n: 1), myeloid sarkomdu (n: 1).
TARTIÞMA ve SONUÇ: Difüz büyük B hücreli lenfoma hasta sayýsýnýn MALT lenfomanýn dört katýndan fazla olmasý beklenmeyen bir farktýr. Özellikle nadir görülen yüksek dereceli lenfomalar ve myeloid neoplazilerin, az diferansiye karsinomlarla karýþtýrýlabilme olasýlýðý önemli bir handikaptýr. Duodenal lenfoid foliküller dikkatlice deðerlendirilmeli ve immünhistokimyasal deðerlendirme yapýlmalýdýr.

INTRODUCTION: The gastrointestinal tract is the most common extranodal region for hematolymphoid neoplasms. However, when compared to inflammatory lesions or epithelial tumors, this group of neoplasms is quite rare and some of them cause diagnostic difficulties. In this study, the clinicopathological features of common hematolymphoid neoplasms of the gastrointestinal tract were aimed to be represented and observed rare entities were highlighted.
METHODS: Forty-six patients who were diagnosed of hematolymphoid neoplasia with gastrointestinal system infiltration between the years 2014 and 2021 were selected retrospectively from the archives of pathology department. Pathology reports, demographic and clinical data, endoscopic and imaging findings were collected from the hospital information system.
RESULTS: Thirty-six of the patients were diagnosed of primary neoplasms of the gastrointestinal tract. Nine patients were accepted as secondary spread of systemic disease to the gastrointestinal tract. For one patient, differential diagnosis regarding primary or secondary disease could not be made with available data. The mean age was 56. Approximately three-quarters (73.9%) of the cases were diagnosed by endoscopic biopsy. Patients frequently (73.9%) presented with nonspecific gastrointestinal symptoms. However, ileus was described in cases with bowel localization. The most common diagnosis was diffuse large B-cell lymphoma (n: 26) followed by MALT lymphoma (n: 6). We had four patients diagnosed as duodenal-type follicular lymphoma. Rare cases were IRF4-associated large B-cell lymphoma (n: 1), EBV positive large B cell lymphoma (n: 1), extracavitary/solid variant primary effusion lymphoma (n: 1), myeloid sarcoma (n: 1).
DISCUSSION AND CONCLUSION: An unexpected difference was that the number of patients with diffuse large B-cell lymphoma was more than four times of MALT lymphoma. Possibility of confusion with poorly differentiated carcinomas is an important handicap especially in rare high grade lymphomas and myeloid neoplasms. Duodenal lymphoid follicles should be carefully evaluated and immunohistochemical evaluation should be performed.

GÝRÝÞ ve AMAÇ: Bu çalýþma ile amacýmýz, kadýn saðlýk çalýþanlarýnýn meme ve serviks kanseri hakkýndaki bilgi düzeylerini ölçmektir.
YÖNTEM ve GEREÇLER: Bu kesitsel çalýþmada ocak 2020 ile haziran 2020 arasýnda Hatay Eðitim ve Araþtýrma Hastanesinde çalýþan 310 kadýn saðlýk çalýþaný çalýþmaya dahil edildi. Çalýþma için meme kanseri ve serviks kanseri farkýndalýk anketlerinin Türkçe versiyonu kullanýldý.
BULGULAR: 17-62 yaþ aralýðýndaki 310 katýlýmcýnýn (ort: 34.3 ± 8.8) %16.5’i doktor, %48.1’i hemþire ve ebe, %13.9’u laboratuvar çalýþaný ve teknisyen, %16.5’i sekreter ve %5.2’si öðrencidir. Meme kanseri taramasýna yönenlik %63.5’i rutin kendi kendine meme muayenesi (KKMM) yaptý. Katýlýmcýlarýn %60.3’ü hiç mamografi (MMG) ve ultrasonografi (USG) yaptýrmadý, %27.7’si hiç jinekolojik muayene olmadý ve %58.4’ü hiç pap smear test aldýrmadý.
TARTIÞMA ve SONUÇ: Özellikle doktor ve hemþirelerin meme kanseri hakkýndaki bilgileri yeterli olmakla birlikte tutum ve davranýþlarý yeterli düzeyde deðildi.

INTRODUCTION: This study aimed to measure the level of knowledge of female healthcare professionals about breast cancer and cervical cancer.
METHODS: This cross-sectional study including 310 female healthcare staff working in Hatay Training and Research Hospital was conducted between January 2020 and June 2020. The Turkish version of breast cancer and cervical cancer awareness measure questionnaires were used for the study.
RESULTS: The age of the 310 participants varied from 17 to 62 years, 16.5% of the participants were doctors, 48.1% of them were nurses and midwives, 13.9% of them were laboratory workers and technicians, 16.5% of them were secretaries, and 5.2% of them were students. Regarding breast cancer screening, 63.5% underwent breast self-examination (BSE) routinely. Of the participants, 60.3% never underwent mammography (MMG) and ultrasonography (USG), 27.7% never went for a gynecological examination, and 58.4% had never received a Pap smear test.
DISCUSSION AND CONCLUSION: The level of knowledge about breast cancer was sufficient among especially doctors and nurses but their attitudes and behaviors were not of the expected level.

GÝRÝÞ ve AMAÇ: Kronik miyelomonositik lösemi (KMML), miyelodisplastik sendrom ve miyeloproliferatif neoplazmlarýn ortak özelliklerine gösteren, kötü prognozlu, medyan saðkalýmý 20-40 ay arasýnda deðiþen ve takip sürecinde %15-30 oranýnda akut miyeloid lösemi (AML) geliþen bir hastalýktýr. Bu çalýþmanýn amacý, merkezimizde takip edilen KMML hastalarýnýn özelliklerini, tedaviye yanýtlarýný ve AML dönüþüm oranlarýný deðerlendirmektir.

YÖNTEM ve GEREÇLER: Ocak 2013- Ocak 2022 tarihleri arasýnda KMML tanýsý ile takipli 14 hastanýn verilerileri retrospektif olarak deðerlendirilmiþtir.

BULGULAR: Bulgular: On dört hastanýn ortalama yaþý 66 (en küçük 43-en büyük 84) olup sadece bir hastada (%7.1) JAK2 V617F mutasyonu saptandý. Hastalarýn çoðunda Evre-0 KMML (%64.3) olup ve 13 hastada proliferatif tip hastalýk olduðu gözlendi. Dokuz hasta (%64.3) hidroksiüre ile tedavi edildi ve iki hastada yanýt alýndý. Sekiz hasta azasitidin ile tedavi edildi ve üç hastada yanýt elde edildi. Takip sýrasýnda beþ hastada (%35.7) AML dönüþümü saptandý. KMML tanýsý sonrasý AML dönüþümünün medyan 12 ayda (10-33 ay) olduðu gözlendi. AML dönüþümü gözlenen grupta, taný anýnda nötrofil yüzdesinin daha düþük (%52,5 ve %72,3) ve monosit yüzdesinin daha yüksek (%27 ve %15.6) olduðu gözlendi. AML dönüþümü gözlenen grupta toplam hastalýk süresinin daha uzun (21 ve 5 ay) olduðu saptandý.
TARTIÞMA ve SONUÇ: KMML tedavisinde kullanýlan hipometile edici ajanlar ve hidroksiüre tedavileri ile hastalarda yeterli yanýt elde edilememektedir. AML dönüþüm oraný hastalýk süresi arttýkça artmaktadýr.

INTRODUCTION: Chronic myelomonocytic leukemia (CMML) is a condition that overlaps with myelodysplastic syndrome and myeloproliferative neoplasms. The prognosis is generally poor, with a median survival of 20 to 40 months and approximately 15-30% of patients progressing to acute myeloid leukemia (AML). We aimed to evaluate the characteristics and outcomes of CMML patients who were treated at our institution.

METHODS: A retrospective cohort study examined data from 14 CMML patients between January 2013 and January 2022.

RESULTS: The median age of fourteen patients at diagnosis was 66 years (min 43-max 84 years). Only one patient (7.1%) had the JAK 2 V617F mutation. Most of the patients had CMML stage-0 disease (64.3%) and 13 patients had the proliferative type of disease. Nine patients were treated with hydroxyurea, which resulted in two responders. Eight patients were treated with azacitidine, which resulted in three responders. During follow-up, AML transformation was observed in five patients (35.7%) and the median duration between diagnosis and AML transformation was 12 months (10-33 months). In the AML-transformed group, at the time of diagnosis, the percentage of neutrophils was lower (52.5% vs 72.3%), and the percentage of monocytes was higher (27% vs 15.6%). In AML-transformed group the total disease duration was longer (21 (11-44) vs 5 (2-48) months) than non-transformed group.
DISCUSSION AND CONCLUSION: In patients receiving hypomethylating agents and hydroxyurea treatments for CMML, adequate response cannot be obtained. The rate of AML transformation increases with disease duration.

GÝRÝÞ ve AMAÇ: Bu çalýþmada, özellikle hiperkalsemi, böbrek fonksiyon bozukluðu, anemi ve kemik lezyonlarý (CRAB) semptomlarý olmayan monoklonal gamopatili (MG) hastalarda, önemi belirsiz monoklonal gamopati (MGUS) ve smoldering multipl miyelom (SMM) tanýsýnda, serum serbest hafif zincirinin (sFLC) geleneksel tetkik yöntemleri ile birlikte kullanýmýnýn kemik iliði biyopsisi (kib) ihtiyacýný ortadan kaldýrarak etkinliðinin araþtýrýlmasý amaçladýk.
YÖNTEM ve GEREÇLER: Çalýþmaya ESR 50 mm/h ve üzerinde olan, 50 yaþ üstü 160 hasta alýndý. Bu hastalarýn serum immünfiksasyon elektroforezi (sIFE) ve serum hafif serbest zincir (sFLC) düzeyleri eþ zamanlý çalýþýldý. MGUS tanýsý için sIFE ve sFLC'nin duyarlýlýðý ve özgüllüðü ROC analizi ile tahmin edildi.
BULGULAR: Çalýþmaya alýnan160 hastanýn yapýlan sIFE ile 36 (%22,5) hastada ve sFLC ile de 30 (%18,7) hastada monoklonal gammopati (MG) tespit edilmiþtir. Yalnýzca sIFE, yalnýzca sFLC ve hem sIFE hem de sFLC tarafýndan saptanan MG'li toplam 44 hasta vardý. MG tespit edilen ve kemik iliði biyopsi (kib) iþlemine onay veren 42 hastaya kib yapýlmýþtýr. Bu hastalara; test sonuçlarý, kib sonuçlarý, klinik ve laboratuar verileri de kullanýlarak MGUS, SMM ve MM tanýsý konulmuþtur. sÝFE’nin MG tespitinde sensitivitesi %82.5, spesifitesi %99.2 (p<0.001) olarak saptanmýþtýr. sFLC’nin ise sensitivitesi %72.5, spesifitesi %99.2 (p<0.001) olarak saptanmýþtýr. sÝFE ve sFLC eþ zamanlý yapýldýðýnda ise sensitivitesi %100, spesifitesi %98.3 (p<0.001) olarak saptanmýþtýr.
TARTIÞMA ve SONUÇ: MG’lerin tespitinde ve özellikle asemptomatik hastalarda kib yapmadan hem noninvaziv hem de daha kýsa sürede sonuç alma fýrsatý ile sIFE ve sFLC nin eþ zamanlý bakýlmasý MGUS tanýsý koymada ve takip etmede yeterli ve güvenilir olabilir.

INTRODUCTION: This study aimed to investigate the effectiveness of using serum free light chain (sFLC) together with traditional examination methods in diagnosing monoclonal gammopathy of undetermined significance (MGUS) and smoldering multiple myeloma (SMM), especially in patients with MG without hypercalcemia, renal dysfunction, anemia, and bone lesions (CRAB) symptoms, by eliminating the need for bone marrow biopsy (BMb).
METHODS: A total of 160 patients over 50 years of age with an ESR of 50 mm/h and above were included in the study. Serum immunofixation electrophoresis (sIFE) and sFLC levels of these patients were studied simultaneously. Sensitivity and specificity of the sIFE and sFLC for diagnosis of MGUS were estimated by ROC analysis.
RESULTS: MG was detected in 36 (22.5%) patients with sIFE and in 30 (18.7%) patients with sFLC of 160 patients included in the study. There was a total of 44 patients with MG detected by sIFE alone, sFLC alone, and both sIFE and sFLC. Bone marrow biopsy(bmb) was performed on 42 patients with MG who approved the bmb procedure. These patients were diagnosed MGUS, SMM and MM by using test results, bmb results, and clinical and laboratory data. The sensitivity of sIFE in the detection of MG was 82.5% and the specificity was 99.2% (p<0.001). sFLC had a sensitivity of 72.5% and a specificity of 99.2% (p0.001). When siFE and sFLC were performed simultaneously, the sensitivity was 100% and the specificity was 98.3% (p<0.001).
DISCUSSION AND CONCLUSION: Simultaneous monitoring of sIFE and sFLC, which is both non-invasive and with the opportunity to achieve results in less time without BM bx, may be sufficient and reliable in the diagnosis and follow-up of MGUS in the detection of MGs and especially in asymptomatic patients.

GÝRÝÞ ve AMAÇ: Multipl Miyelom (MM) sýk görülen bir hematolojik malignitedir ve çeþitli faktörler saðkalýmý etkiler. Ürik asit (ÜA), kolay ve hýzlý eriþilebilir bir laboratuvar testidir. ÜA'nýn birçok hematolojik hastalýkta prognozu ve saðkalýmý etkilediði bulunmuþtur ve miyelom üzerindeki etkisi geniþ çapta araþtýrýlmamýþtýr.
YÖNTEM ve GEREÇLER: Retrospektif çalýþmamýz 2014-2021 yýllarý arasýnda 106 MM hastasýný içermektedir. Otolog kök hücre nakli (OKHN) uygulanan hastalarýn taný anýndaki ÜA düzeyinin tedavi sonuçlarý ve sað kalým üzerine etkisi araþtýrýlmýþtýr.
BULGULAR: Taný anýnda ortalama ÜA 6.05 mg/dL idi ve kohortumuzun %38.7'si medyan 30 aylýk takipten sonra nüks etti ve yüzde 22,7'si ölüydü. Sað kalým analizinde, ÜA seviyesi hem hastalýksýz sað kalým (PFS) hem de genel sað kalým (OS) açýsýndan önemli ölçüde farklý deðildi (HR, 1.067; %95 GA, 0.947-1.202; p=0.290, HR, 0.941; %95 CI, 0.791-1.121; p=0.497, sýrasýyla).
TARTIÞMA ve SONUÇ: Çalýþmamýzda, OKHN uygulanan MM hastalarýnda, taný anýndaki ÜA düzeyi için cut-off deðeri ne olursa olsun, cut-off deðerinin PFS veya OS üzerinde etkisi yoktu.

INTRODUCTION: Multiple Myeloma (MM) is a common hematological malignancy and various factors affect survival. Uric acid (UA) is an easily and quickly accessible laboratory test. UA has been found to affect prognosis and survival in many hematological diseases and its impact on myeloma is not widely investigated.
METHODS: Our retrospective study includes 106 MM patients between 2014 and 2021. The influence of UA level at diagnosis on treatment outcomes and survival of patients who received autologous stem cell transplantation (ASCT) was investigated.
RESULTS: The mean UA at diagnosis was 6.05 mg/dL, and 38.7% of our cohort relapsed after a median of 30 months of follow-up, with 22.7 percent dead. In survival analysis, the level of UA did not significantly differ in both progression-free survival (PFS) and overall survival (OS) (HR, 1.067; 95% CI, 0.947-1.202; p=0.290, HR, 0.941; 95% CI, 0.791-1.121; p=0.497, respectively).
DISCUSSION AND CONCLUSION: In our study, regardless of the cut-off value for the UA level at the time of diagnosis, the cut-off value had no impact on PFS or OS in MM patients who received ASCT.

GÝRÝÞ ve AMAÇ: Bu çalýþmanýn amacý, farklý derecelerdeki prostat kanserinin (PK) görünür difüzyon katsayýsý (ADC) deðerlerini deðerlendirmek ve ADC deðeri kullanýmýnýn PK'deki tümör agresifliðini tahmin edip edemeyeceðini deðerlendirmekti.
YÖNTEM ve GEREÇLER: Ocak 2017 ile Aralýk 2020 arasýnda klinik veya laboratuvar bulgularýna göre þüpheli olgularýn deðerlendirilmesi için multi-paramterik prostat MRG (1.5 Tesla) çekimi yapýlan 47 hasta (Gleason skoru (GS) ≥ 6) çalýþmaya dahil edildi. Histopatolojik taný için trans-rektal ultrason (TRUS) kýlavuzluðunda 12 kor sistematik biyopsiden elde edilen örnekler kullanýldý. Tümör içindeki ortalama ADC deðerleri hesaplandý. Baðýmsýz örneklem t testi, tek yönlü varyans analizi (ANOVA, Tukey's post-hoc veya Tamhane) ve “receiver operating characteristics” (ROC) eðrisi analizi kullanýldý.
BULGULAR: Yuksek riskli hastalarin ortalama ADC’si 585.4±138.7(×10-6 mm2/s) olculmus olup diger risk alt gruplarina gore anlamli olarak daha dusuktu (p = 0.036). Dusuk risk grubundaki hastalarda ortalama ADC degeri (798,1±236.5×10-6 mm2/s) diger gruplara gore anlamli olarak daha yuksekti (p = 0,012). Dusuk riskli ile orta riskli gruplar (p = 0.149) ve orta riskli ile yuksek riskli gruplar (p = 0.419) arasinda ADC degerlerinde anlamli bir fark bulunmadi. GS 3+4 ve GS 4+3 arasinda ADC degerlerinde istatistiksel olarak anlamli bir fark bulunmadi (p, 0,552). ROC analiziyle, yuksek risk grubunu diger alt gruplardan ayirt etmek icin optimal ADC esik degeri 595×10-6 mm2/s olarak hesaplandi (duyarlilik, %71; ozgulluk %67,6, p, 0,038). Dusuk risk grubunun belirlenmesi icin ADC esik degeri 665×10-6 mm2/s (duyarlilik, %80; ozgulluk, %65,6, p, 0,017) olarak bulundu.
TARTIÞMA ve SONUÇ: ADC degerleri yuksek riskli ve dusuk riskli tumorleri ayirt edebiliyorken, ADC'nin orta riskli tumorleri tahmin etme gucu dusuktu. ADC esik degeri olan 665×10-6 mm2/s, dusuk riskli tumorlerin tespiti icin yuksek duyarlilik ve orta duzeyde ozgulluk gostermektedir.

INTRODUCTION: The purpose of this study was to evaluate the apparent diffusion coefficient (ADC) values of different grades of prostate cancer (PC) and determine whether the use of ADC values could predict the tumor aggressiveness in PC.
METHODS: 47 patients (Gleason score (GS) ≥ 6) who underwent prostate multi-parametric MRI (1.5 Tesla) between January 2017 and December 2020 for the evaluation of suspicious findings on clinical or laboratory evaluation were enrolled in this study. The specimens which were obtained from systematic 12-core trans-rectal ultrasound (TRUS)-guided biopsy were used for histopathologic diagnoses. The average ADC values within the tumors were calculated. Independent sample t-test, one-way analysis of variance (ANOVA, Tukey’s post-hoc or Tamhane) and receiver operating characteristics (ROC) curve analysis were used.
RESULTS: The mean ADC value of high-risk patients which was 585.4±138.7×10-6 mm2 /s, was significantly lower than other subgroups (p=0.036). The mean ADC value in low-risk group (798.1±236.5 ×10-6 mm2/s) was significantly higher (p = 0.012) than others. No significant difference in ADC values was found between low-risk vs intermediate-risk groups (p = 0.149) and intermediaterisk vs high-risk groups (p = 0.419). No statistically significant difference in ADC values between GS 3+4 and GS 4+3 (p, 0.552) was found. ROC analysis revealed an optimal ADC cut-off of 595×10-6 mm2/s for differentiating high-risk group from the other subgroups (sensitivity, 71%; specificity 67.6%, p, 0.038). For the determination of low-risk group, an ADC cut-off of 665×10-6 mm2/s (sensitivity, 80%; specificity, 65.6%, p, 0.017) was found.
DISCUSSION AND CONCLUSION: While ADC values may differentiate the high-risk and low-risk tumors, the strength of ADC in the prediction of intermediate-risk tumors was low. The ADC cut-off value of 665×10-6 mm2/s showed the high sensitivity and moderate specificity for the detection of low-risk tumors.

GÝRÝÞ ve AMAÇ: Nörofibromatozis tip I ve tip 2 (NF1 ve NF2), Ulusal Saðlýk Konsensüsü Enstitüleri'nin klinik taný kriterlerine göre teþhis edilen iki nadir otozomal dominant nörokutanöz genetik hastalýktýr. Artan malignite riskleri ve yaþa baðlý penetrans nedeniyle erken taný için NGS temelli taný yöntemleri kullanýlmalýdýr. Bununla birlikte, NF1 ve NF2 genlerinin moleküler teþhisi, genlerin büyük boyutu ve mutasyon noktalarýnýn olmamasý nedeniyle zordur. Bu çalýþmada 2016-2019 yýllarý arasýnda yeni nesil dizileme (NGS) ile NF1 ve NF2 genleri araþtýrýlan 67 hasta sunuldu. NGS temelli moleküler genetik tanýlarýn etkinliðini göstermeyi ve Türk popülasyonunda varyant spektrumunun oluþturulmasýna katkýda bulunmayý amaçladýk.
YÖNTEM ve GEREÇLER: Taný kriterlerini karþýlayan hastalar dahil edildi.
Periferik kan örneklerinden DNA ekstraksiyonundan sonra, hem NF1 hem de NF2 genlerini içeren NGS tabanlý bir panel gerçekleþtirildi. Sonuçlar ACMG 2015 kriterleri ve in silico biyoinformatik araçlarý kullanýlarak deðerlendirildi.

BULGULAR: Toplam 67 hastanýn 39'unda çeþitli varyantlar saptandý (39/67, ~%58). Varyant daðýlýmý þu þekildeydi; 15 çerçeve kaymasý, 8 anlamsýz, 7 yanlýþ anlamlý, 6 splays bölge ve üç insersiyon/delesyon. Yeni varyant oraný 23/39 (22 NF1, 1 NF2, ~%59) idi. Klinik öneme göre sýnýflandýrma þu þekildeydi: ACMG 2015 kriterlerine göre 23 patojenik, 14 olasý patojenik ve bir VUS
TARTIÞMA ve SONUÇ: Sonuçlarýmýz, bir NGS paneli kullanýlarak yapýlan genetik taramanýn, erken taný ve genetik danýþmanlýk saðlamak için daha yararlý ve yararlý olduðunu ve hasta takibini olumlu yönde etkilediðini göstermiþtir.

INTRODUCTION: Neurofibromatosis type I and type 2 (NF1 and NF2) are two rare autosomal dominant neurocutaneous genetic disorders that are diagnosed based on clinical diagnostic criteria of the National Institutes of Health Consensus. Due to increased malignancy risks and age-related penetrance, NGS-based diagnosis methods should be used for early diagnosis. However, molecular diagnosis of the NF1 and NF2 genes are challenging owing to the large size of genes, and the lack of mutation hotspots. In this study, we present 67 patients between 2016-2019 who were investigated for NF1 and NF2 genes with the next generation sequencing (NGS). We aimed to show the effectiveness of NGS-based molecular genetic diagnoses and contribute to establishing the variant spectrum in the Turkish population.
METHODS: Patients who met the diagnostic criteria were included in this study. After DNA extraction from peripheric blood samples, an NGS-based panel that includes both NF1 and NF2 genes was performed. Results were evaluated using ACMG 2015 criteria and in silico bioinformatics tools.
RESULTS: 39 of 67 total patients revealed various variants (39/67, ~%58). The variant distribution was as follows; 15 frameshift, 8 nonsense, 7 missense, 6 splice sites, and three insertion/deletion. Novel variants ratio was 23/39 (22 NF1, 1 NF2, ~%59). The classification according to clinical significance was as follows: 23 pathogenic, 14 likely pathogenic, and one VUS according to ACMG 2015 criteria.
DISCUSSION AND CONCLUSION: Our results suggested that a genetic screening using an NGS panel is more useful and helpful to provide early diagnosis and genetic counseling and have a positive impact on patient follow-up.

GÝRÝÞ ve AMAÇ: Bisfosfonatlarýn kemik rezorbsiyonu inhibisyonu yaný sýra, tümör oluþumunu sýnýrlama etkileri bildirilmektedir. Çalýþmamýzda tek merkezde Zoledronik asid (ZA) intravenöz ve Ýbandronik asid (ÝA) oral/intravenöz kullanan hastalardaki progresyonsuz saðkalým (PS), genel saðkalým (GS) ve iskelet iliþkili olaylarýn (ÝÝO) deðerlendirilmesi amaçlandý.

YÖNTEM ve GEREÇLER: 2013-2018 yýllarý arasýnda, en az 3 ay ZA yada ÝA tedavileri alan metastatik meme kanserli hastalar retrospektif olarak incelendi. Menopoz durumu, visseral metastaz varlýðý, ÝÝO öyküsü (kýrýk, radyoterapi, operasyon), taný anýnda kemik metastaz varlýðý, kullanýlan antikanser tedaviler deðerlendirildi. PS ve GS süreleri hesaplandý.

BULGULAR: ZA grubunda 44 hasta var iken, ÝA oral 22 ve intravenöz grubunda 11 hasta vardý. Her iki gruba ait hasta özellikleri birbirine denkti. Çalýþmamýzda PS, ZA grubunda15 ay, ÝA grubunda 25 ay idi (p=0.134). GS, ZA grubunda 81 ay, ÝA 153 ay idi (p=0.088). ÝÝO’lar açýsýndan gruplar deðerlendirildiðinde; kýrýk, radyoterapi ve operasyon açýsýndan sýrasýyla iki grup arasýnda fark bulunamadý (sýrasýyla p=0.606, p=0.295, p=0.247). 2 yýllýk saðkalým oraný ise ZA grubunda %71.5 iken, ÝA grubunda %78.3 olarak izlendi.

TARTIÞMA ve SONUÇ: ZA ve IA, ÝÝO geliþimi, PS ve GS açýsýndan benzer etkinliðe sahiptir. Metastatik meme kanserinde kemik metastazlarýnýn tedavisine yönelik tedavi seçiminde ilaç etkinliði/yan etkilerinin deðerlendirilmesinin yaný sýra tedaviye uyum ve maliyet de göz önünde bulundurulmalýdýr.

INTRODUCTION: Objective: Bisphosphonates have been reported to limit tumor formation, in addition to inhibition of bone resorption. We evaluated the effect of intravenous zoledronic acid (ZA) and oral/intravenous ibandronic acid (IA) on progression-free survival (PFS), overall survival (OS), and skeletal-related events (SRE) in breast cancer patients with bone metastases.


METHODS: The retrospective study included patients with metastatic breast cancer who received ZA or IA treatments for at least three months between 2013 and 2018. Menopausal status, presence of visceral metastases, history of skeletal-related events (fracture, radiotherapy, and operation), de novo bone metastasis, and anticancer treatments were recorded. PFS and OS were calculated for each patient.
RESULTS: There were 44 patients in the ZA group as opposed to 22 patients in the IA oral group and 11 patients in the intravenous IA group. Median PFS was 15 months in the ZA group and 25 months in the IA group (p=0.134). Median OS was 81 months in the IA group and 153 months in the ZA group (p=0.088). No significant difference was found between the groups with regard to history of fracture, radiotherapy, and operation (p=0.606, p=0.295 and p=0.747, respectively). The two-year survival rate was 71.5% in the ZA group and 78.3% in the IA group.

DISCUSSION AND CONCLUSION: ZA and IA have similar efficacy in terms of SRE development, PFS and OS. In the selection of treatment for the treatment of bone metastases in metastatic breast cancer, besides evaluating drug efficacy/side effects, treatment compliance and cost should also be considered.

GÝRÝÞ ve AMAÇ: Kutanöz skuamöz hücreli karsinom(cSCC) en sýk görülen kanserlerden biriyken, genç eriþkin cSCC nadirdir ve klinik özellikleri, sonuçlarý ve iyatrojenik risk faktörleri iyi tanýmlanmamýþtýr. Bu çalýþmada genç eriþkinlerde cSCC ile iliþkili klinik özellikleri, potansiyel risk faktörlerini ve nüksü etkileyen faktörleri tanýmlamak amaçlanmýþtýr.
YÖNTEM ve GEREÇLER: Taný yaþý <35 olan, tam týbbi öyküsüne ve kullandýðý ilaçlara ulaþýlabilen ve retrospektif analize izin veren 43 hasta çalýþmaya dâhil edildi. Hastalarýn demografik özellikleri, taný tarihleri, lezyon lokalizasyonlarý, patoloji sonuçlarý ve aile öyküleri kaydedildi.
BULGULAR: Çalýþmaya dâhil edilen hastalarýn ortalama taný yaþý 29 (17-34) yýl olarak bulundu. 20 hastanýn (46,5%) ailesinde malignite öyküsü bulunmaktaydý. 19 hastada (44,2%) SCC tanýsýndan önce prekanseröz lezyon saptandýðý görüldü. Hastalarýn %7’sinde organ veya allojenik kemik iliði nakli ve uzun dönem immünsupresan kullanýmý, %7’sinde kutanöz kanserlere genetik yatkýnlýk ve %7’sinde RT-KT öyküsü mevcuttu. 58 aylýk takip süresinde 18 hastanýn (41,9%) nüks ettiði gözlendi. Histopatolojik olarak orta-kötü differansiye skumaöz hücreli karsinom varlýðýnýn, uzamýþ immünsupresan kullanýmýnýn, radyoterapi ve kemoterapi öyküsü bulunmasýnýn nüks geliþimi ile istatistiksel anlamlý iliþkisi olduðu gözlendi (p<0,05). Saðkalýmý etkileyen faktörler için yapýlan Kaplan-Meier analizinde genetik risk varlýðýnýn, kötü differansiyasyonun ve nüks varlýðýný saðkalým ile iliþkisi gösterilmiþtir. (p<0.05)
TARTIÞMA ve SONUÇ: Genç eriþkinlerde uzun süreli immünsupresan kullanýmý, kemoradyoterapi, genetik kutanöz kanser yatkýnlýk sendromlarý ve prekürsör lezyon varlýðý gibi cSCC geliþimi için risk faktörlerinin tanýnmasý uygun danýþmanlýk, erken taný ve etkin tedavi saðlamak için büyük önem taþýmaktadýr.

INTRODUCTION: Cutaneous squamous cell carcinoma (cSCC) is one of the most common cancers. Young adult cSCC is rare and its clinical features, outcomes, and iatrogenic risk factors are not well defined. This study aimed to specify the clinical characteristics, potential risk factors, and the factors affecting recurrence associated with cSCC in young adults.
METHODS: Forty-three patients aged <35 years at diagnosis, who allowed their data to be retrospectively analyzed, and whose full medical history and records were available were included in the study. Their demographic characteristics, date of diagnosis, localization of lesion, pathological and family histories were recorded.
RESULTS: Patients’ mean age at diagnosis was 29 (17-34) years. Twenty patients (46.5%) had familial history of malignancy; 19 (44.2%) had precancerous lesions before SCC diagnosis. Three (7%) had a history of organ or allogeneic bone marrow transplantation and long-term use of immunosuppressants, 3 (7%) had genetic predisposition to cutaneous cancers, and 3 (7%) had a history of RT-CT. Eighteen patients (41.9%) had relapses during the 58-month follow-up. Histopathologically, presence of moderately-poorly differentiated squamous cell carcinoma, prolonged use of immunosuppressants, and history of RT-CT were statistically significantly associated with relapse (p<0.05). Kaplan-Meier analysis done for factors affecting survival showed a relationship between survival and presence of genetic risk, poor differentiation, and recurrence (p<0.05).
DISCUSSION AND CONCLUSION: Recognizing the risk factors for cSCC in young adults (long-term immunosuppressants, chemoradiotherapy, genetic cutaneous cancer predisposition syndromes, presence of precursor lesions) bear great importance in providing appropriate guidance to ensure early diagnosis and effective treatment.

GÝRÝÞ ve AMAÇ: 65 yaþ üzeri hastalarýn klinik çalýþmalarýn %25’inden daha azýný oluþturmasý nedeniyle biliyer sistem kanseri olan ileri yaþ hastalarýn yönetimi konusunda kanýt eksiði bulunmaktadýr. Bu amaçla, metastatik safra yolu kanseri tanýlý yaþlý hastalarda tedaviyi ve saðkalýmý etkileyen faktörleri deðerlendirmek için retrospektif çok merkezli bir çalýþma tasarladýk.
YÖNTEM ve GEREÇLER: Çalýþmaya 65 yaþ ve üzeri, ileri evre safra yolu kanseri tanýsý almýþ, 116 hasta dahil edildi ve yaþ gruplarýna göre tedavi yanýtlarý, saðkalým ve toksisite oranlarý deðerlendirildi.
BULGULAR: Median yaþa göre gruplandýrýlýdðýnda; yaþ ile tedaviye yanýt, saðkalým, toksisite arasýnda anlamlý bir fark bulunmadý. Tüm populasyonda medyan progresyonsuz saðkalým (PSK) ve genel saðkalým (GSK) sýrasýyla 5.3, 11.8 aydý. Multivariate analizde, PSK için baðýmsýz prognostik faktörler preformans durumu(ECOG PS) (p<0.001 CI95% 1.5-3.7) ve Prognostik nutrisyonel indek (PNI) (p<0.001 CI 95% 0.14-0.41) olarak bulundu. GSK için ise baðýmsýz prognostik faktörler, birinci sýra tedavi seçimi, Notrofil Lenfosit oraný (p=0,007 CI %95 0,71 – 0,94) ve PNI (p=0,001 CI %95 0,35 – 0,91) olarak bulundu.
TARTIÞMA ve SONUÇ: Metastatik safra yolu kanseri olan yaþlý hastalarda prognozu etkileyen temel faktöreler inflamatuar parametreler ve birinci basamakta seçilen kemoterapi rejimidir. Ýleri yaþ ile saðkalým, toksiste profili ve tedavi toleransý farklýlýk göstermemektedir.

INTRODUCTION: There is a lack of evidence of the outcomes in elderly patients advanced stage biliary tract cancer due to the patients aged over 65 years are less than 25% in many prospective trials. We designed a retrospective multicenter study to evaluate the factors affecting treatment and survival in elderly patients with advanced-stage biliary tract cancer.
METHODS: A total of 116 patients with advanced stage biliary tract cancer aged ≥65 years were included, and the treatment responses, survival, and toxicity rates were evaluated with respect to age groups.
RESULTS: There was no significant difference between age and response to treatment, survival, or toxicity. The median progression-free survival and overall survival were 5.3, and 11.8 months respectively. Multivariate analysis indicated that ECOG PS (p<0.001 CI95% 1.5-3.7) and PNI (p<0.001 CI 95% 0.14-0.41) were significant independent prognostic factors for PFS. The independent prognostic factors for OS were choice of frontline regimen, NLR and PNI (p=0.007 CI 95% 0.71 – 0.94, p=0.006 CI 95% 1.2 – 3.1, p=0.001 CI 95% 0.35 – 0.91, respectively).
DISCUSSION AND CONCLUSION: This study confirms the general prognostic relevance of inflammatory parameters and the importance of frontline treatment in elderly patients with advanced-stage biliary tract tumors. Additionally, getting older does not indicate that treatment will be avoided or that they will have a worse prognosis and suffer from more toxicities.