Araştırma Çıktıları

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    Hematopoietic Stem Cell Transplantation in Patients with Heterozygous STAT1 Gain-of-Function Mutation
    (SPRINGER/PLENUM PUBLISHERS, 2019-01-01) Kiykim, Ayca; Charbonnier, Louis Marie; Akcay, Arzu; Karakoc-Aydiner, Elif; Ozen, Ahmet; Ozturk, Gulyuz; Chatila, Talal A.; Baris, Safa
    PurposeHuman signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations present with a broad range of manifestations ranging from chronic mucocutaneous candidiasis and autoimmunity to combined immunodeficiency (CID). So far, there is very limited experience with hematopoietic stem cell transplantation (HSCT) as a therapeutic modality in this disorder. Here, we describe two patients with heterozygous STAT1 GOF mutations mimicking CID who were treated with HSCT.MethodsData on the HSC sources, conditioning regimen, graft-versus-host disease (GvHD) and antimicrobial prophylaxis, and the post-transplant course including engraftment, GvHD, transplant-related complications, infections, chimerism, and survival were evaluated. Pre- and post-transplant immunological studies included enumeration of circulating interferon gamma (IFN-)- and interleukin 17 (IL-17)-expressing CD4(+) T cells and analysis of IFN--induced STAT1 phosphorylation in patient 1 (P1)'s T cells.ResultsP1 was transplanted with cord blood from an HLA-identical sibling, and P2 with bone marrow from a fully matched unrelated donor using a reduced toxicity conditioning regimen. While P1 completely recovered from her disease, P2 suffered from systemic CMV disease and secondary graft failure and died due to severe pulmonary involvement and hemorrhage. The dysregulated IFN- production, suppressed IL-17 response, and enhanced STAT1 phosphorylation previously found in the CD4(+) T cells of P1 were normalized following transplantation.ConclusionHSCT could be an alternative and curative therapeutic option for selected STAT1 GOF mutant patients with progressive life-threatening disease unresponsive to conventional therapy. Morbidity and mortality-causing complications included secondary graft failure, infections, and bleeding.
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    STAT3 expression is correlated with pathological stage in luminal subtypes of breast carcinoma
    (COMENIUS UNIV, 2020-01-01) Eroglu, M.; Kokenek-Unal, T. D.; Akin-Bali, D. F.; Kirimlioglu, S. H.
    AIM: STATs and HIFs in human solid tumors play an important role in mechanisms of tumor growth. The aim of this study was to determine the prognostic role of STATs and HIFs in breast cancers. METHODS: Twenty-four breast carcinoma cases who underwent mastectomy and axillary dissection were included into the study. The presence of STATs and HIFs in 24 breast cancer cases was evaluated immunohistochemically. We evaluated the differences in tumor grade, diameter, limits, intratumor desmoplasia, inflammatory infiltration, necrosis, axillary lymph node involvement, estrogen, progesterone and CerbB2 staining. RESULTS: In this study, the presence of STATs and HIFs expressions in breast tumors is shown. In our study, no statistically significant correlation was found between tumor grade, diameter, limits, intratumor desmoplasia, inflammatory infiltration, necrosis, axillary lymph node involvement, CerbB2 staining status and STATs and HIFs expressions. However, STAT5a and estrogen staining and HIF2 alpha and progesterone staining were found statistically significant. In addition, STAT3 expression was found to have significantly higher correlation with luminal breast cancer. CONCLUSIONS: The findings suggest that STATs and HIFs may play a role in the development of invasive ductal carcinomas