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Summary: Multiple myeloma (MM) is a haematological malignancy primarily affecting the elderly, with a striking male predilection and ethnic disparities in incidence. Familial predisposition to MM has long been recognized, but the genetic underpinnings remain elusive. This study aimed to investigate germline variants in Turkish families with recurrent MM cases. A total of 37 MM‐affected families, comprising 77 individuals, were included. Targeted next‐generation sequencing analysis yielded no previously reported rare variants. Whole exome sequencing analysis in 11 families identified rare disease‐causing variants in various genes, some previously linked to familial MM and others not previously associated. Notably, genes involved in ubiquitination, V(D)J recombination and the PI3K/AKT/mTOR pathway were among those identified. Furthermore, a specific variant in BNIP1 (rs28199) was found in 13 patients across nine families, indicating its potential significance in MM pathogenesis. While this study sheds light on genetic variations in familial MM in Turkey, its limitations include sample size and the absence of in vivo investigations. In conclusion, familial MM likely involves a polygenic inheritance pattern with rare, disease‐causing variants in various genes, emphasizing the need for international collaborative efforts to unravel the intricate genetic basis of MM and develop targeted therapies. [ABSTRACT FROM AUTHOR]

Objectives: The main objective of the present study was to evaluate whether the use of plerixafor in combination with granulocyte colony-stimulating factor (G-CSF) or subsequent use of isolated G-CSF and then plerixafor following disease-specific chemotherapy, and whether it would allow for adequate peripheral stem cell collection in patients. Methods: The retrospective study evaluated 54 patients with previous mobilization failure who were administered plerixafor in 2 centers. In patients without any side effects, CD 34+ cell counts, the percentage of patients who were found eligible for autologous transplantation, the engraftment kinetics of the patients who underwent transplantation, and their overall survival results were compared between the two groups where G-CSF was used with plerixafor, or where plerixafor was used after isolated G-CSF following chemotherapy. Results: The median age of the patients was 49 years (range: 17-70), and 64.8% (n = 35) were males. It was identified that 31 (57.4%) patients underwent mobilization treatment with isolated G-CSF and plerixafor, and 23 (42.6%) patients underwent mobilization treatment with chemotherapy plus G-CSF and plerixafor. In all patients, mean hemoglobin level (11.3 ± 1.5 g/dL vs. 9.3 ± 1.3 g/dL; p < 0.001) and median platelet level (129.2 ×103/µL vs. 58.4 ×103/µL) were found to be higher, while febrile neutropenia rate (3.3% vs. 60.9%), the percentage of replacement patients (6.7% vs. 65.2%), and median days of G-CSF (6 vs. 9) were found to be lower on the day of plerixafor administration in the isolated G-CSF and plerixafor group compared to the chemotherapy and G-CSF and plerixafor group. Conclusions: In conclusion, our study demonstrated that administration of plerixafor is generally safe and well-tolerated. Regardless of the underlying disease, it offers an effective alternative for patients with previous failed mobilization attempts using conventional regimens, and allows stem cell collection with fewer apheresis sessions. [ABSTRACT FROM AUTHOR]

Copyright of Medical Journal of Bakirkoy is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Turkish Journal of Hematology is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Medical Journal of Istanbul Kanuni Sultan Süleyman / İstanbul Kanuni Sultan Süleyman Tıp Dergisi is the property of Logos Medical Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Journal of the Child / Çocuk Dergisi is the property of Journal of Child and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Olgu: Elli yedi yaşında erkek hasta 2017'de tipik göğüs ağrısıyla başvuran hastaya Hb: 5,9 saptanması üzerine anemi etiyolojisi açısından araştırıldığı sırada D. coombs +4 saptanması üzerine OIHA tanısı konuldu. Sedimentasyon yüksekliği nedeniyle ileri tetkik edilen hastada toraks BT'de multipl patolojik görünümde hiler LAP ve her iki akciğerde nodüler kaviter lezyonlar saptandı. Tbc ve fungal enfeksiyon açısından yapılan incelemeler negatif sonuçlandı. LAP eksizyonu yapılan hastada parakortikal alanda trabeküller oluşturan plazma hücreleri izlendi. Ancak klonalite lehine bulgu saptanmadı. Çekilen PET-BT'de sol akciğer alt lobda 18 mm*12 mm boyutlarında malignite açısından kuşkulu görünüm saptanan hastaya eksizyonel biyopsi yapıldı. Biyopsi materyalinin patolojik incelemesi ile IgG kappa hafif zincir fenotipli lenfoplazmositer lenfoma tanısı konuldu. BORID rejimi (borteozomib-ritüksimab-deksametazon) sonrasında remisyona giren hasta takibe alındı. Bir yıl sonra başlayan karın ağrısı ve alt ekstremitede döküntü şikayetiyle tarafımıza başvurdu. Fizik muayenesinde batında yaygın hassasiyeti ve her iki alt ekstremitede palpabl purpura karakterinde döküntüleri saptandı. Batın BT'sinde duodenumda ve proksimal jejunal anslarda duvar kalınlık artışı görüldü. Toraks BT'sinde kaviter komponent dominant multipl sayıda nodül formasyonu izlendi. Ön planda lenfoplazmositer lenfomayla ilişkili düşünüldü. Alt ekstremitedeki döküntülerinden punch biyopsi alındı. Papiller dermiste birkaç küçük çaplı damar duvarında granüler karakterde IgA-C3 birikimi saptandı. Serum kreatinin değerinde progresyon, nefrotik düzeyde proteinüri, aktif idrar sedimenti olması nedeniyle böbrek biyopsisi yapılan hastada 24 glomerülün 12'sinde sellüler kresent ve immünfoloresan incelemede IgA-C3 birikimi saptandı. Kongo ve kriyoglobulin negatif saptandı. Böbrekte selüler kresentik IgA vasküliti saptanan hastaya pulse metilprednizolon ve siklofosfamid indüksiyon tedavisi uygulandı. Lenfoplazmositer lenfoma hastalık durumunu değerlendirmek açısından kemik iliği biyopsisi yapıldı ve PET/BT çekildi. Kemik iliği aspiratı ve biyopsisinin değerlendirmesinde lenfoplazmositer lenfoma lehine infiltrasyon saptanmadı. PET/BT'de sağ akciğer üst lob apikal segmentte 30*20 mm'lik artmış FDG tutulumu saptandı. Klinik olarak lenfoma progresyonu kabul edilerek Ibrutinib-deksametazon tedavisi başlanması planlandı. Sonuç: Vaskülitler malignitelerin seyrinde ortaya çıkabilir. Bu olgu literatürde bildirilen ilk lenfoplazmositer lenfoma seyrinde görülen sistemik IgA vasküliti olgusudur. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Turkish Society for Rheumatology is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Journal of Turkish Society for Rheumatology is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Turkish Journal of Hematology is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)