RESUMEN
Cutaneous T-cell lymphomas are very rare in children. Although mycosis fungoides is the most common of these rare cutaneous T-cell lymphomas in children, transformation to an aggressive malignancy remains extremely uncommon, and there are no clear guidelines for clinical management in the pediatric population. In addition, the increased usage of next-generation sequencing for pediatric patients with unusual malignancies may result in the discovery of pathogenic germline mutations, though the association between these mutations and the patient's cancer is not always clear. We present here a unique pediatric case of transformed mycosis fungoides in a patient with BRCA2 mutation.
Asunto(s)
Proteína BRCA2/genética , Linfoma Cutáneo de Células T/patología , Mutación , Micosis Fungoide/patología , Neoplasias Cutáneas/patología , Preescolar , Femenino , Humanos , Linfoma Cutáneo de Células T/complicaciones , Linfoma Cutáneo de Células T/genética , Micosis Fungoide/complicaciones , Micosis Fungoide/genética , Pronóstico , Neoplasias Cutáneas/complicaciones , Neoplasias Cutáneas/genéticaRESUMEN
The rarity of mixed phenotype acute leukemia (MPAL) has precluded adequate data to incorporate minimal residual disease (MRD) monitoring into therapy. Fluidity in MPAL classification systems further complicates understanding its biology and outcomes; this includes uncertainty surrounding the impact of shifting diagnostic requirements even between iterations of the World Health Organization (WHO) classification. Our primary objective was to address these knowledge gaps. To do so, we analyzed clinicopathologic features, therapy, MRD, and survival in a centrally-reviewed, multicenter cohort of MPAL uniformly diagnosed by the WHO classification and treated with acute lymphoblastic leukemia (ALL) regimens. ALL induction therapy achieved an EOI MRD negative (<0.01%) remission in most patients (70%). EOI MRD positivity was predictive of 5-year EFS (HR = 6.00, p < 0.001) and OS (HR = 9.57, p = 0.003). Patients who cleared MRD by EOC had worse survival compared with those EOI MRD negative. In contrast to adults with MPAL, ALL therapy without transplantation was adequate to treat most pediatric patients. Earlier MRD clearance was associated with better treatment success and survival. Prospective trials are now necessary to validate and refine MRD thresholds within the pediatric MPAL population and to identify salvage strategies for those with poor predicted survival.
Asunto(s)
Trasplante de Células Madre Hematopoyéticas/mortalidad , Quimioterapia de Inducción/mortalidad , Leucemia/mortalidad , Neoplasia Residual/mortalidad , Leucemia-Linfoma Linfoblástico de Células Precursoras/mortalidad , Niño , Estudios de Cohortes , Femenino , Estudios de Seguimiento , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Humanos , Leucemia/clasificación , Leucemia/patología , Leucemia/terapia , Masculino , Neoplasia Residual/epidemiología , Neoplasia Residual/patología , Fenotipo , Leucemia-Linfoma Linfoblástico de Células Precursoras/patología , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Pronóstico , Tasa de Supervivencia , Estados Unidos/epidemiologíaRESUMEN
Myoid angioendothelioma are rare and benign vascular tumours of the spleen. Radiographic evaluation and diagnosis is often challenging and subjecting tissue samples to immuhistochemical analysis is often required to make a definitive diagnosis. Myoidangioendotheliomas can be managed with open or laparoscopic splenectomy with minimal risk of recurrent disease. Herein, we present a case of a myoid angioendothelioma in a patient with stage IV Wilms' tumour.
Asunto(s)
Hemangioendotelioma/diagnóstico , Neoplasias Renales/patología , Neoplasias Primarias Secundarias/diagnóstico , Neoplasias del Bazo/diagnóstico , Tumor de Wilms/patología , Niño , Diagnóstico Diferencial , Hemangioendotelioma/patología , Humanos , Masculino , Estadificación de Neoplasias , Neoplasias Primarias Secundarias/patología , Bazo/patología , Neoplasias del Bazo/patologíaRESUMEN
To the best of our knowledge, this is the first case report of middle ear extramedullary hematopoiesis (EMH) in a pediatric patient as well as the first bilateral presentation reported in both children and adults. We report a 13-year-old African-American female with sickle cell disease who developed bilateral hearing loss, with magnetic resonance imaging findings consistent with bilateral glomus tympanicum (GT). Upon excisional biopsy, however, EMH was diagnosed histologically. Besides its novelty, this case highlights the importance of considering EMH in the differential diagnosis of GT including cases with bilateral presentation that may be otherwise highly suggestive of the familial form of GT.
Asunto(s)
Neoplasias del Oído/diagnóstico , Oído Medio/patología , Tumor del Glomo Timpánico/diagnóstico , Hematopoyesis Extramedular , Adolescente , Neoplasias del Oído/patología , Femenino , Tumor del Glomo Timpánico/patología , HumanosRESUMEN
Acute leukemia frequently has been described as a late complication of chemotherapy with alkylating agents in patients treated for multiple myeloma. However, the simultaneous occurrence of multiple myeloma and acute leukemia in the same patient, without previous exposure to chemotherapy, is a rare association. We describe a case of concomitant involvement by multiple myeloma and acute monocytic leukemia. To our knowledge, only 9 such cases have been reported in the literature to date. We discuss the criteria used in diagnosing the 2 separate diseases and the possible mechanisms responsible for this occurrence.