Incidence and Prognostic Significance of High-Risk Cytogenetically Abnormalities in Multiple Myeloma Patients in Colombia.

INTRODUCTION: Multiple Myeloma (MM) is the second most common hematological cancer, several cytogenetics abnormalities such as t(4;14), del (17p), and t(14;16) were identified as a high-risk for survival, in Latin America, we have very little data on cytogenetic alterations in MM. This study describes the incidence of high-risk cytogenetically abnormalities in a Colombian population and prognostic significance. METHODS: In a retrospective cohort of new diagnostic Multiple Myeloma between 2016 and 2020, we identified a high-risk cytogenetically abnormalities t(4;14), t(14;16), and 17p deletions by FISH techniques and described incidence. We followed patients until progression or death and comparing progression free survival (PFS) and overall survival (OS), according with high- risk cytogenetically features. RESULTS: We included 135 newly diagnosed MM patients, the incidence of high-risk cytogenetically abnormalities were 30.3%, with 17.1% of 17p deletions, 14.1% of t(4;14) and 2.25% of t(14;16). According to the high risk cytogenetically abnormalities, the median PFS for the group of no abnormalities were 50.2 months 95% CI [25.2-62.4] and for the group of high-risk cytogenetic abnormalities 33.9 months 95% CI [23.6-NA] (P = .2). For OS the median were 76.9 months, 95% CI [67.5-NA] and 42.7 months 95% CI [33.3-NA], respectively (P = .009). CONCLUSION: High-risk cytogenetically abnormalities were independent risk factor for OS but not PFS in this cohort of patients, and the incidence of del (17p) was slightly higher than the literature reports.  MICROABSTRACT: Prognostic significance of high-risk cytogenetic abnormalities in Multiple Myeloma in Colombia is unknown. In a retrospective cohort study of 135 newly, diagnostic Multiple Myeloma we found incidence of high-risk cytogenetic abnormalities was 30.3%. The hazard ratio (HR) for disease progression or death compared high-risk cytogenetic group vs. control was 1.22, (95% CI, 0.73-2.05) (P = .2), and The HR for death for the group of high-risk cytogenetic abnormalities was 2.17, (95% CI, 1.19-3.97). In the group of high-risk cytogenetic abnormalities, if the patient received VRD as induction treatment the median PFS were 41.2 months 95% CI [13.3-NA] and 33.9 months 95% CI [24.9-NA] for patients with different induction treatment (P = .56).

Measurable Residual Disease Assessment and Allogeneic Transplantation as Consolidation Therapy in Adult Acute Lymphoblastic Leukemia in Colombia.

INTRODUCTION: Detectable minimal residual disease (MRD) after therapy for acute lymphoblastic leukemia (ALL) is the strongest predictor of hematologic relapse. The objective of the study was to assess disease-free survival (DFS) and overall survival (OS) of patients with ALL according with MRD status at the end of induction therapy in a Colombian population. PATIENTS AND METHODS: We assessed a retrospective cohort to compare DFS and OS in adults with de novo ALL according to MRD status at the end of induction chemotherapy, and the type of postinduction consolidation strategy used. RESULTS: A total of 165 adults with ALL were included in the MRD part of the study, 73 patients in the MRD-negative group and 92 in the MRD-positive group. Median DFS for the MRD-positive group was 11 months (95% confidence interval, 11.7-22.2) and was not reached for the MRD-negative group (P < .001). At 3 years, DFS was 18% and 55%, respectively (P < .001). The median OS for MRD-positive patients was 16 months (95% confidence interval, 8.8-23.15) and was not reached in the MRD-negative group. At 3 years, OS was 26% and 51% for the former and latter group, respectively. Among subjects who did not receive a transplant, median DFS was 21 months for MRD-negative patients and 9 months for MRD-positive patients (P < .001). The median DFS was not reached in either group, whereas 3-year DFS was 64% for MRD-negative and 70% for MRD-positive patients who underwent transplantation in first remission (P = .861). CONCLUSION: MRD status at the end of induction is an independent prognostic factor for DFS and OS in adult ALL. Allogeneic transplantation in first remission could overcome the adverse prognostic impact of MRD.

[Disseminated juvenile paracoccidioidomycosis diagnosed in a girl in an urban area]. / Paracoccidioidomicosis juvenil diseminada diagnosticada en una niña en área urbana.

INTRODUCTION: Paracoccidioidomycosis is one of the most prevalent systemic fungal infections in Latin American countries. The incidence rate has been increasing and its detection has gotten increasingly common in travelers or immigrants from endemic areas. It is characterized by respiratory symptoms, lymphadenopathies and skin lesions, which gradually progress and subsequently lead to death in some untreated chronic disease cases. OBJECTIVE: To describe the clinical approach and diagnosis of an exotic tropical pathology in an urban area. CASE DESCRIPTION: Case description and extended literature review. We made a case report of urban paracoccidioidomycosis in a young patient, with a clinical syndrome of fever for a month, widespread nodal involvement, cutaneous manifestations and weight loss. During the physical examination, hepatosplenomegaly and a febrile episode were evidenced, whose diagnosis was difficult. Management started with itraconazole and trimethoprim sulfamethoxazole, with subsequent cessation of spiking fevers and significant improvement of the skin lesions. We performed a comprehensive literature review, with search criteria performed in PubMed and adapted for different databases. The review was conducted based on the studies found in Medline, LILACS, SciELO and Cochrane Library, from 1966 up to this moment. Studies were selected by the authors based on their relevance and scientific contribution to the discussion of this case. CONCLUSIONS: There are few cases of paracoccidiomycosis in the pediatric population despite the endemicity of this entity in Latin America. An increasing population influx from endemic areas makes suspecting of this disease a must.

Paracoccidioidomicosis juvenil diseminada diagnosticada en una niña en área urbana / Disseminated juvenile paracoccidioidomycosis diagnosed in a girl in an urban area

Introducción. La paracoccidioidomicosis es una de las infecciones micóticas sistémicas más prevalente en los países latinoamericanos. La tasa de incidencia ha ido en incremento y su detección es cada vez más común en viajeros o inmigrantes de las zonas endémicas. Se caracteriza por un cuadro de síntomas respiratorios, linfadenopatías y lesiones cutáneas que progresan paulatinamente, por lo que la enfermedad crónica no tratada puede llevar a la muerte. Objetivo. Describir el enfoque clínico y diagnóstico de una enfermedad tropical exótica en una zona urbana. Caso clínico. Se describe un caso de paracoccidioidomicosis juvenil en área urbana con un cuadro clínico de síndrome febril de un mes de evolución, compromiso ganglionar generalizado, manifestaciones cutáneas y pérdida de peso; el examen físico evidenció episodio febril y hepatoesplenomegalia, cuyo diagnóstico fue difícil. Se inició manejo con itraconazol y trimetoprim-sulfametozaxol con posterior cese de los picos febriles y mejoría significativa de las lesiones en la piel. Se hizo una revisión extensa de la literatura científica con los criterios de búsqueda de Pubmed adaptados para las diferentes bases de datos; la revisión se basó en los estudios hallados en Medline, LILACS, SciELO y Cochrane Library desde 1966 hasta la fecha. Los estudios fueron seleccionados por los autores con base en su relevancia y aporte científico a la discusión del caso en mención. Conclusiones. Son pocos los casos de paracoccidioidomicosis en la población pediátrica a pesar de ser endémica en América Latina. Las crecientes corrientes de urbanización de las zonas endémicas hacen que este cuadro deba sospecharse.

Introduction: Paracoccidioidomycosis is one of the most prevalent systemic fungal infections in Latin American countries. The incidence rate has been increasing and its detection has gotten increasingly common in travelers or immigrants from endemic areas. It is characterized by respiratory symptoms, lymphadenopathies and skin lesions, which gradually progress and subsequently lead to death in some untreated chronic disease cases. Objective: To describe the clinical approach and diagnosis of an exotic tropical pathology in an urban area. Case description: Case description and extended literature review. We made a case report of urban paracoccidioidomycosis in a young patient, with a clinical syndrome of fever for a month, widespread nodal involvement, cutaneous manifestations and weight loss. During the physical examination, hepatosplenomegaly and a febrile episode were evidenced, whose diagnosis was difficult. Management started with itraconazole and trimethoprim sulfamethoxazole, with subsequent cessation of spiking fevers and significant improvement of the skin lesions. We performed a comprehensive literature review, with search criteria performed in PubMed and adapted for different databases. The review was conducted based on the studies found in Medline, LILACS, SciELO and Cochrane Library, from 1966 up to this moment. Studies were selected by the authors based on their relevance and scientific contribution to the discussion of this case. Conclusions: There are few cases of paracoccidiomycosis in the pediatric population despite the endemicity of this entity in Latin America. An increasing population influx from endemic areas makes suspecting of this disease a must.

Linfoma de Burkitt primario de mama. Presentación de un caso / Burkitt Lymphoma Primary of the Breast. A Case Report

Se presenta el caso de una mujer en el último trimestre de embarazo con mastalgia y cambios inflamatorios en ambos senos, con aumento progresivo después del parto. Se le practicó biopsia por tru-cut que demostró linfoma de Burkitt en el estudio de patología. Los linfomas primarios de seno son raros, más frecuentes en mujeres que en hombres y entre la sexta y la séptima década de la vida. Sin embargo, algunos de ellos, como el linfoma de Burkitt, pueden ocurrir durante el embarazo o el posparto por estimulo hormonal. Debe sospecharse en mujeres en embarazo o puerperio con mastitis que no presenta mejoría con el tratamiento instaurado.

We report the case of a woman in her last trimester of pregnancy with bilateral breast pain and inflammatory changes that increased after delivery. Burkitt lymphoma was reported in the Pathology study of a trucut biopsy. Primary breast lymphomas are rare, being more frequent in women than in men during the sixth or seventh decade of life. However some of these lymphomas, like Burkitt lymphoma, can occur during pregnancy or puerperium due to hormonal stimulation. It should be suspected in pregnant women or in puerperium with mastitis that does not improve with the established treatment.

Leucemia/linfoma T del adulto en pacientes infectados con HTLV-1: reporte de dos casos de Colombia / Adult T-cell leukemia/lymphoma in HTLV-1 infected patients: report of two cases in Colombia

La leucemia/linfoma de células T del adulto ( Adult T-Cell Leukemia/Lymphoma , ATLL) es una neoplasia maligna de los linfocitos T CD4 maduros, que resulta de la infección con el virus T-linfotrópico humano de tipo 1 (HTLV-1), con varias manifestaciones sistémicas y cutáneas. Se presentan dos casos de leucemia/linfoma de células T del adulto en pacientes del suroccidente de Colombia, cuyos diagnósticos fueron confirmados por histología, inmunohistoquímica, citometría de flujo y pruebas ELISA y Western blot. También, se discute acerca del virus y cómo hacer el diagnóstico en países como el nuestro.

Adult T-cell leukemia/lymphoma (ATLL) is a malignant neoplasia of mature CD4+ T lymphocytes,resulting from infection with human T-lymphotropic virus type 1 (HTLV-1), with several systemic and cutaneous manifestations. We present two cases of adult T-cell leukemia/lymphoma, in patients from the Colombian Southwestern region, whose diagnoses were confirmed by histology, immunohistochemistry, flow cytometry, ELISA and Western blot tests. We also discuss about the virus and how to make this diagnosis in countries like Colombia.

[Adult T-cell leukemia/lymphoma in HTLV-1 infected patients: report of two cases in Colombia]. / Leucemia/linfoma T del adulto en pacientes infectados con HTLV-1: reporte de dos casos de Colombia.

Adult T-cell leukemia/lymphoma (ATLL) is a malignant neoplasia of mature CD4+ T lymphocytes,resulting from infection with human T-lymphotropic virus type 1 (HTLV-1), with several systemic and cutaneous manifestations. We present two cases of adult T-cell leukemia/lymphoma, in patients from the Colombian Southwestern region, whose diagnoses were confirmed by histology, immunohistochemistry, flow cytometry, ELISA and Western blot tests. We also discuss about the virus and how to make this diagnosis in countries like Colombia.

B cell chronic lymphocytic leukaemia/small lymphocytic lymphoma: role of ZAP70 determination on bone marrow biopsy specimens.

BACKGROUND: The course of chronic lymphocytic leukaemia/small lymphocytic lymphoma (CLL/SLL) partly depends on the mutational status of the variable region of immunoglobulin heavy chain genes (IgV(H)), which defines two subgroups of tumours: mutated and unmutated. The expression of zeta-associated protein 70 (ZAP70) is significantly associated with the more aggressive unmutated forms. AIMS: To assess the feasibility of the ZAP70 immunohistochemical test on bone-marrow biopsy (BMB) specimens and to compare the results with those of western blotting (WB) and IgV(H) mutational status assessed on neoplastic cells from peripheral blood. METHODS: 26 patients with CLL/SLL detected on BMB and with known IgV(H) mutational status were selected. ZAP70 was determined by immunohistochemistry (IHC) comparing three antibodies from different sources (Upstate, Cell Signaling, Santa Cruz, California, USA) and two different methods (APAAP and EnVision(+)). In 23 cases, ZAP70 WB results were also available. RESULTS: ZAP70 determination on BMB specimens turned out to be easily feasible with routine procedures with reagents from Upstate and Cell Signaling. The results were concordant with those obtained with WB and mutational status analysis in >80% of the cases with both reagents. Three of four discordant cases were mutated/ZAP70 positive, with two staining weakly for ZAP70 on both WB and IHC. CONCLUSIONS: The study confirms the role of ZAP70 as a possible surrogate of mutational status and emphasises its application in routine diagnostics; it discloses a small subset of discordant cases (mutated/ZAP70 weakly positive) that clinically cluster with the more favourable forms.

Chromosomal translocations and their role in the pathogenesis of non-Hodgkin's lymphomas.

The discovery that non-Hodgkin's lymphomas are monoclonal and that recurrent chromosomal translocations are involved in their pathogenesis has greatly revolutionised their diagnosis and improved our understanding of these diseases. In the last decades, many genes deregulated by such recurrent chromosomal translocations have been identified. However, we have also learned that these genetic alterations are apparently insufficient, in themselves, to cause neoplastic cell transformation and that more complex genetic events must be involved. This review examines the involved genes in chromosomal translocations and current evidence and postulated mechanisms for their role in the pathogenesis of non-Hodgkin's lymphomas.