Inflammatory Cells in Atypical Eruption of Lymphocyte Recovery Carry the Same Mutations as Neoplastic Myeloid Cells.

Cutaneous eruption of lymphocyte recovery (ELR) during bone marrow (BM) aplasia recovery after intensive chemotherapy has been reported in very few patients. The presence of skin rashes in patients with acute leukemia who are undergoing intensive chemotherapy and BM transplantation is a diagnostic challenge because of the clinical similarity between drug eruptions, infiltrates related to the relapse of the underlying disease, cutaneous graft-versus-host disease, and ELR. IDH1 mutations have been identified as a recurrent genetic anomaly in acute myeloid leukemia and myelodysplastic syndromes. However, until now, this IDH1 mutation has not been reported as being shared by myeloid cells and non-neoplastic inflammatory cells in this clinical setting. Here, we present the rare case of a woman diagnosed with myelodysplastic syndrome that evolved into an acute myelogenous leukemia with leukemic cutaneous infiltrate. The patient developed ELR after the intensive chemotherapy administered before BM transplantation. The IDH1 mutation was identified in BM cells and in myeloid and inflammatory cells in skin biopsies before allogeneic BM transplantation. We discuss the main aspects of the differential diagnosis of these cutaneous reactions in leukemic patients and the biological significance of the IDH1 mutation.

Comparison of Droplet Digital PCR versus qPCR Measurements on the International Scale for the Molecular Monitoring of Chronic Myeloid Leukemia Patients.

BACKGROUND: BCR-ABL1/ABL1 p210 measurement by quantitative polymerase chain reaction (qPCR) is used worldwide to monitor the molecular response in chronic myeloid leukemia (CML) patients. Droplet digital polymerase chain reaction (ddPCR) seems to show a greater sensitivity than qPCR, probably due to the high number of replicates analyzed in ddPCR for the comparison. Additionally, in a recently published comparison, ddPCR measurements were not adequately transformed into International Scale (IS). METHOD: We have analyzed 50 CML patients and ten non-CML donors in parallel by qPCR and ddPCR. To the best of our knowledge, this is the first study comparing both techniques under similar conditions, with BCR-ABL1/ABL1 measurements performed via both techniques transformed into IS. RESULTS: Qualitative and quantitative comparisons showed excellent results. The qualitative correlation showed a Kappa index of 0.94 (95% confidence interval [CI] 0.90-0.98) (P < 0.001). In the quantitative comparison, the absolute intra-class correlation coefficient was 0.868 (95% CI 0.734-0.937; P < 0.001), and Lin's concordance correlation coefficient was 0.863. The Passing-Bablock test indicated a slight proportional difference between qPCR and ddPCR. A quantitative and qualitative subanalysis including 40 patients with a molecular response of 3.0 or deeper showed similar results in every test. In addition, the proportional difference in the Passing-Bablock test disappeared. There were no differences in the sensitivity for BCR-ABL1 detection between qPCR and ddPCR (McNemar test, P = 0.5). CONCLUSIONS: In conclusion, our results show very good quantitative and qualitative correlations between BCR-ABL1/ABL1 p210 results obtained by qPCR and by ddPCR and confirm previous scarce data regarding the lack of an increase in sensitivity of ddPCR over qPCR in this setting.

Transexualidad y reproducción: situación actual desde el punto de vista clínico y legal / Transsexualism and reproduction: Clinical and legal situation

Se diagnostican como transexuales las personas que se identifican con el sexo opuesto y rechazan el género propio. Existen distintas hipótesis que intentan explicar el origen de la transexualidad, siendo las más aceptadas las teorías con bases biológicas. La prevalencia estimada es variable en función de la zona geográfica, siendo más frecuentes los transexuales femeninos que los masculinos. Las técnicas de reproducción asistida facilitan las opciones reproductivas de este colectivo que acude, cada vez más, a los centros clínicos especializados para tratar de formar una familia defendiendo el derecho a la reproducción de todo ser humano. Los transexuales pueden verse favorecidos especialmente por las técnicas de preservación de la fertilidad, pudiendo criopreservar sus gametos antes de la reasignación de sexo como estrategia preventiva en vistas a un posible deseo de reproducción futura. La falta de recomendaciones o guías consensuadas sobre la aplicabilidad de las técnicas de reproducción asistida en individuos transexuales y el vacío normativo existente dificultan su acceso a estas técnicas. Esta revisión recoge las posibles opciones reproductivas de los transexuales desde un punto de vista clínico y analiza la situación actual en el marco de la legislación española vigente (AU)

People who identify themselves with the opposite sex and reject their own gender are diagnosed as transsexuals. Different hypotheses have tried to explain the origin of transsexualism, biological theories being the most accepted. The estimated prevalence is variable, this depending on the geographic area. Female are more frequent than male transsexuals. Assisted reproduction techniques facilitate the reproductive options of this group who increasingly come to specialized clinical centers to try to form a family, defending the reproductive rights of every human being. Transsexuals could be especially favored by fertility preservation techniques, being able to cryopreserve their gametes before sex reassignment as a preventive strategy in view of a possible desire for future reproduction. Lack of recommendations or agreed on guidelines and absence of regulations about the applicability of assisted reproduction in transsexuals hinders their access to these techniques. This review summarizes the possible reproductive options of transsexuals from a clinical point of view and analyzes the current situation in the framework of Spanish law (AU)