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.

Targeted Capture of Hundreds of Nuclear Genes Unravels Phylogenetic Relationships of the Diverse Neotropical Palm Tribe Geonomateae.

The tribe Geonomateae is a widely distributed group of 103 species of Neotropical palms which contains six ecologically important understory or subcanopy genera. Although it has been the focus of many studies, our understanding of the evolutionary history of this group, and in particular of the taxonomically complex genus Geonoma, is far from complete due to a lack of molecular data. Specifically, the previous Sanger sequencing-based studies used a few informative characters and partial sampling. To overcome these limitations, we used a recently developed Arecaceae-specific target capture bait set to undertake a phylogenomic analysis of the tribe Geonomateae. We sequenced 3,988 genomic regions for 85% of the species of the tribe, including 84% of the species of the largest genus, Geonoma. Phylogenetic relationships were inferred using both concatenation and coalescent methods. Overall, our phylogenetic tree is highly supported and congruent with taxonomic delimitations although several morphological taxa were revealed to be non-monophyletic. It is the first time that such a large genomic dataset is provided for an entire tribe within the Arecaceae. Our study lays the groundwork not only for detailed macro- and micro-evolutionary studies within the group, but also sets a workflow for understanding other species complexes across the tree of life.

Carcinoma escamocelular puro primario de vesícula biliar / Primary pure squamous cell carcinoma of the gallbladder

El carcinoma escamocelular puro primario de vesícula biliar es una neoplasia infrecuente cuya etiología y fisiopatología no están totalmente aclarados. A continuación se presenta el caso de un paciente de género femenino de 68 años de edad, quien presentó un cuadro clínico caracterizado por dolor tipo cólico en hipocondrio derecho, acompañado de náuseas, vómito y fiebre no cuantificada. Se le realizaron pruebas diagnósticas que no fueron concluyentes, por lo cual se ordenó una colecistectomía que reveló un carcinoma escamocelular puro primario de vesícula biliar, que al estudio macro y microscópico revelaba un aumento del volumen del órgano que se asociaba a una distorsión de la arquitectura normal, reemplazada por lesión tumoral infiltrativa. Por tratarse de una variante infrecuente de carcinoma de vesícula biliar, se reporta este caso, además de las dificultades clínicas que genera su diagnóstico.

Primary pure squamous cell carcinoma of the gallbladder is a rare neoplasm whose etiology and pathophysiology are incompletely understood. Here is a case of a 68-year-old female patient, who presented a clinical picture characterized by crampy pain in right hypochondrium, accompanied by nausea, vomiting and unquantified fever, diagnostic tests was performed but it was not so conclusive, for this reason, cholecystectomy was ordered and this revealed a primary pure squamous cell carcinoma of the gallbladder, macro and microscopic study revealed an increased volume of the organ that was associated with a distortion of normal architecture, replaced by diffuse infiltrative tumor. This variant of carcinoma is not common, so is reported this case, besides the clinical difficulties generated by the diagnosis.

Early age renal synovial sarcoma.

OBJECTIVE: We report a primary renal Synovial Sarcoma (SS) case and analyze its features. METHOD: A 15 year old male presented with left abdominal mass and weight loss. CT scan images showed a 13 cm mass located in the lower pole of the left kidney. Renal biopsy recognized an undifferentiated neoplasm, the immunohistochemistry suggesting the probability of neuroectodermic primitive tumor versus SS. Chemotherapy and radical nephrectomy were carried out. Pathological study showed a big multilobulated necrotic tumor 22 x 13 x 12.5 cm. Histopathological study demonstrated a neoplasm composed by immature cells. Currently, patient has survived 1,8 years. A structured bibliographical search was performed in the Medline, Imbiomed and Scielo databases. RESULTS: The final immunohistochemistry studies gave the diagnosis of poorly differentiated renal SS small cell variety. CONCLUSION: The renal SS is extremely infrequent, with less than 40 cases reported, of which this case reports the earlier age. These tumors, when located in the kidney, represent a great diagnostic challenge that requires adequate clinical, radiological, surgical, and pathological correlation for appropriate diagnosis and treatment.

Sarcoma sinovial renal en edad temprana / Early age renal synovial sarcoma

OBJECTIVE: We report a primary renal Synovial Sarcoma (SS) case and analyze its features.METHOD: A 15 year old male presented with left abdominal mass and weight loss. CT scan images showed a 13 cm mass located in the lower pole of the left kidney. Renal biopsy recognized an undifferentiated neoplasm, the immunohistochemistry suggesting the probability of neuroectodermic primitive tumor versus SS. Chemotherapy and radical nephrectomy were carried out. Pathological study showed a big multilobulated necrotic tumor 22x13x12.5 cm. Histopathological study demonstrated a neoplasm composed by immature cells. Currently, patient has survived 1,8 years.A structured bibliographical search was performed in the Medline, Imbiomed and Scielo databases.RESULTS: The final immunohistochemistry studies gave the diagnosis of poorly differentiated renal SS small cell variety.CONCLUSION: The renal SS is extremely infrequent, with less than 40 cases reported, of which this case reports the earlier age. These tumors, when located in the kidney, represent a great diagnostic challenge that requires adequate clinical, radiological, surgical, and pathological correlation for appropriate diagnosis and treatment (AU)

OBJETIVO: Describir un caso de Sarcoma Sinovial (SS) renal primario y realizar una revisión sobre este tema.MÉTODO: Paciente masculino de 15 años de edad, con masa abdominal izquierda y pérdida de peso. A quien se documentaron por imágenes una lesión de 13 cm de diámetro, localizada en el polo inferior del riñón izquierdo, por lo cual, se realizó una biopsia renal, en la que se evidenció un tumor maligno indiferenciado, cuyos estudios de inmunohistoquimica sugerían los diagnósticos de tumor neuroectodermico primitivo Vs SS. Con lo anterior, iniciaron quimioterapia y realizaron nefrectomía radical. Actualmente el paciente presenta una sobrevida de 1.8 años.RESULTADO: Se reconoció gran tumor renal izquierdo, de 22x13x12.5cm, multilobulado, con áreas de necrosis. Cuyo estudio histopatológico mostro una neoplasia maligna indiferenciada, compuesta por sabanas de células inmaduras. Los estudios de inmunohistoquimica permitieron concluir el diagnóstico de sarcoma sinovial renal pobremente diferenciado de variedad de células pequeñas. Estrategia de búsqueda de la literatura. Se realizó una búsqueda estructurada de la literatura, en las bases de datos Medline, Imbiomed y Scielo.CONCLUSIÓN: Los SS de localización renal son extremadamente infrecuentes, con menos de 40 casos reportados, del cual se presenta el caso informado a edad más temprana. Estos tumores cuando se localizan en el riñón, representan un gran reto diagnóstico que requiere de la adecuada correlación clínico, imagenologica, quirúrgica, y patológica para su adecuado diagnóstico y manejo (AU)