Sole trisomy 6 an uncommon finding in pediatric acute myeloid leukemia, probably associated to bad prognosis
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CASE REPORT
Sole trisomy 6 an uncommon finding in pediatric acute myeloid leukemia, probably associated to bad prognosis Sinhue Alejandro Brukman‑Jimenez1,2, Lucina Bobadilla‑Morales1,2, Jorge Román Corona‑Rivera2, Pablo Alejandro Chávez‑Panduro3, Citlalli Ortega‑de‑la‑Torre1, Uriel Francisco Santana‑Bejarano2, Elizabeth Torres‑Anguiano2, Lucero Mendoza‑Maldonado2, Fernando Antonio Sánchez‑Zubieta1,3 and Alfredo Corona‑Rivera1,2*
Abstract Background: Acute leukemias represent the main malignancies occurring among children under the age of 15 years. Around 17% corresponds to acute myeloid leukemia (AML). The cytogenetic analysis of bone marrow com‑ plements the diagnosis of hematological malignancies, therefore finding chromosomal aberrations provides a more reliable prognosis of the disease. Among the cytogenetic aberrations, sole trisomy is frequent in malignant neoplasias, but few cases related to AML have been reported. Case presentation: We report a sole trisomy 6 in a pediatric patient diagnosed as AML M4 and poor progression. We carried out a literature review of AML patients with sole trisomy 6 and compared their evolution against AML patients with normal karyotype. Conclusions: This is the first case of pediatric AML M4 with this cytogenetic finding. Sole trisomy 6 is infrequently reported in AML but scarce in pediatric cases. Based on overall survival analysis, we suggest that sole trisomy 6 could be associated with poor prognosis, in both, adult as well as pediatric AML. Keywords: Sole trisomy 6, Acute myeloid leukemia, Overall survival Background Leukemia is the most frequent malignant neoplasia among the pediatric population. Acute leukemias represent 32% of malignancies occurring in children under the age of 15 years and around 17% of them are due to acute myeloid leukemia (AML) [1]. AML includes a genetically and clinically heterogeneous group classified by cytogenetic, immunophenotypic, and molecular findings in the *Correspondence: [email protected] 2 Instituto de Genética Humana “Dr. Enrique Corona Rivera”, Laboratorio de Citogenética y Genómica, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Sierra Mojada Street #950, CP‑44340 Guadalajara, Jalisco, Mexico Full list of author information is available at the end of the article
patient [2]. Trisomy of chromosome 6 as a sole cytogenetic abnormality has been observed in malignant neoplasias [3, 4]. In the case of trisomies of AML, + 8 is the most frequently observed, followed by trisomy 4, 9, 11, 13 and 21 [5], but trisomy 6 is infrequent [3, 4]. We scored 29 reported cases, 24 of them adults, and only 5 that corresponded to pediatric cases. The presence of AML-M4 cases was scarce in adults and not observed in pediatric cases. Prognosis of these cases has not been clarified [4]. We present a pediatric patient with AML-M4 and trisomy 6 as a sole cytogenetic abnormality confirmed by classical cytogenetics and molecular methods, literature update and prognostic implications.
© The Author(s). 2020 Open Access
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