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1.
J Surg Case Rep ; 2021(5): rjab177, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-34017588

RESUMO

This case report explores the interesting case of a 71-year-old gentleman who presented with a testicular lump following trauma. Ultrasound imaging of the testicle demonstrated malignancy and subsequently orchidectomy was listed. Due to a scheduling difficulty, this was prioritized ahead of his whole-body computed tomography scan. Intraoperatively, he developed electrocardiogram changes suggestive of a non-ST elevated myocardial infarction. Post-operative imaging demonstrated a diffuse large B-cell lymphoma encroaching the heart and greater vessels. This case report highlights the importance of preoperative imaging, even where it may prove challenging. We assess the adequacy of current guidelines within the UK on imaging for new testicular malignancies.

2.
Leukemia ; 33(2): 415-425, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30573779

RESUMO

Determining the underlying cause of persistent eosinophilia is important for effective clinical management but remains a diagnostic challenge in many cases. We identified STAT5B N642H, an established oncogenic mutation, in 27/1715 (1.6%) cases referred for investigation of eosinophilia. Of the 27 mutated cases, a working diagnosis of hypereosinophilic syndrome (HES; n = 7) or a myeloid neoplasm with eosinophilia (n = 20) had been made prior to the detection of STAT5B N642H. Myeloid panel analysis identified a median of 2 additional mutated genes (range 0-4) with 4 cases having STAT5B N642H as a sole abnormality. STAT5B N642H was absent in cultured T cells of 4/4 positive cases. Individuals with SF3B1 mutations (9/27; 33%) or STAT5B N642H as a sole abnormality had a markedly better overall survival compared to cases with other additional mutations (median 65 months vs. 14 months; hazard ratio = 8.1; P < 0.001). The overall survival of STAT5B-mutated HES cases was only 30 months, suggesting that these cases should be reclassified as chronic eosinophilic leukemia, not otherwise specified (CEL-NOS). The finding of STAT5B N642H as a recurrent mutation in myeloid neoplasia with eosinophilia provides a new diagnostic and prognostic marker as well as a potential target for therapy.


Assuntos
Biomarcadores Tumorais/genética , Eosinofilia/genética , Mutação , Transtornos Mieloproliferativos/genética , Fator de Transcrição STAT5/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Eosinofilia/patologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos Mieloproliferativos/patologia , Prognóstico , Estudos Retrospectivos , Taxa de Sobrevida , Adulto Jovem
3.
Ecancermedicalscience ; 7: 322, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23781277

RESUMO

We present a rare case of a multiple recurrent extramedullary plasmacytoma of the breast and spine that showed aggressive behaviour without bone marrow involvement. A 29-year-old woman initially presented with extramedullary plasmacytoma of the left breast that was treated with radiotherapy. Shortly after, a recurrence appeared in the right breast, spine, and in both breasts, despite treatment with local and systemic therapy.

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