A CRLF2 Rearrangement in a Pediatric Patient with B-ALL Detected by FISH Within the Context of a Complex Abnormal Karyotype.

OBJECTIVES: B-cell acute lymphoblastic leukemia (B-ALL) is one of the prevalent pediatric leukemias, accounting for 26% of cancers diagnosed in children 0-14 years of age. We present a case report of an 11-year-old girl with B-ALL. The patient was in complete remission nine months after diagnosis but passed away a month later from chemotherapy-induced hepatic failure, renal failure, and febrile neutropenia. Conventional cytogenetics showed a karyotype of 46,XX,del(5)(q31q35),add(6)(q23),del(7)(q32q36),add(11)(q23),ider(21)(q10)add(21) (q22),inc[20]. DNA FISH analysis performed on the bone marrow showed variant rearrangement of CRLF2, as well as loss of ETV6 signals and gain of RUNX1 signals. The presence of CRLF2 rearrangements within the context of a complex karyotype is often associated with CRLF2 overexpression and poor prognosis. The heterogeneity of B-ALL and the variability in the outcomes of patients that lack characteristic genetic abnormalities highlight the importance of profiling unusual genetic cases such as this one and continuing research to understand the molecular mechanisms of rarer mutations.

Monosomy 21, a Sole Abnormality in an Elderly Man with Non-CLL-Type Monoclonal B-cell Lymphocytosis.

OBJECTIVES: Monoclonal B-cell lymphocytosis (MBL) is a light-chain restricted proliferation of mature B cells fewer than 5000 cells/µL without additional clinical or hematologic abnormalities. Sibling studies of individuals genetically susceptible to chronic lymphocytic leukemia (CLL) first identified monoclonal B cells in otherwise healthy persons, and studies show a 3% to 14% prevalence for MBL in persons over 40 years of age. Non-CLL-type MBL accounts for less than 20% of all MBL cases, and its progression is incompletely characterized. Here we present the case of an 85-year-old man with CD5-, CD19+, CD20 bright, and lambda-restricted lymphoid cells whose immunophenotypic findings are suggestive for a precursor lesion to marginal zone lymphoma (MZL). Karyotyping showed monosomy 21 without additional cytogenetic changes in three of the 35 cells examined. Monosomy 21 as a sole abnormality in CLL has been detected in just 11 cases between 1984 and 2003. As a sole abnormality in splenic and nodal marginal zone lymphoma, only three instances of monosomy 21 have been recorded on the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer. The significance of monosomy 21 as a marker for oncogenesis remains unclear.

c-MYC Amplification in AML.

OBJECTIVES: Acute myeloid leukemia (AML) is a clonal disorder of myeloid lineage precursors. Identification of cytogenetic aberrations is essential for classification and risk stratification of AML, with many demonstrating unique associations with various clinicopathologic features. One such abnormality is MYC amplification, a rare occurrence identified in less than 1% of AML patients. MYC is most commonly amplified in the form of double minutes, but may also occur via ring and marker chromosomes or homogeneously staining regions. Amplification of MYC often involves various chromosomal aberrations, including trisomies 4 and 6 and aneusomy of the sex chromosomes. In many cases, the presence of MYC amplicons is also associated with other negative prognostic factors, including complex karyotype and advanced age. Although MYC has been extensively investigated as a therapeutic target in various cancers, there are few studies examining the clinical significance of MYC amplification in AML. In this review, we explore recurrent cytogenetic abnormalities and demographic characteristics associated with amplification of MYC in patients with AML and discuss their diagnostic and therapeutic implications.

Hypodiploidy in AML.

OBJECTIVES: Acute myeloid leukemia (AML) is a heterogeneous malignancy of precursor myeloid cells. Identification and understanding of chromosomal abnormalities are key diagnostic and prognostic factors for patients with AML, as they play an important role in risk stratification algorithms. Hypodiploidy, a rare cytogenetic abnormality resulting in a karyotype with fewer than 46 chromosomes, is a rare finding in AML. It is often characterized by the involvement of chromosomes 5, 7, and/or 17, as well as the structural aberration t(8;21)(q22;q22), which is frequently accompanied by the clonal loss of a sex chromosome. Modal number (MN) has been shown to play a role in prognosis, with lower values associated with poorer survival. While hypodiploidy is frequently discussed within the context of acute lymphoblastic leukemia (ALL), its impact has garnered little relevance within AML studies. In this review, we aim to elucidate the characteristics of hypodiploidy in AML, investigate its prognostic significance, and explore its relationship with monosomal karyotypes, a more favored method of risk stratification.

A Complex Karyotype in a 68-Year-Old Patient With T-PLL.

OBJECTIVES: T-cell prolymphocytic leukemia, or T-PLL, is an extremely rare and highly metastatic neoplasm characterized by proliferating mature T-cells and genetic aberrations that often involve chromosome 14. While T-PLL is commonly accompanied by a complex karyotype, there is little analysis on such cases in existing literature and thorough discussions of the less "characteristic" cytogenetic mutations are particularly lacking. We present a case study of a 68-year-old male T-PLL patient with marked leukocytosis and a history of T-cell lymphoproliferative disorder. Chromosomal analysis revealed a complex karyotype that included a translocation of both copies of chromosome 14, rearrangements on 9p and 5p, isochromosome 8, deletion 11q, and monosomy 17. Molecular cytogenetic analysis indicated a rearrangement of TRD (14q11.2), loss of the ATM and CDKN2A signals, and gains of the RELN, TES and MYC signals. Many of these mutations have strongly corresponded to poor prognoses in patients with T-PLL and other leukemias, especially when appearing concurrently. However, there are still profound knowledge gaps in our understanding of many genetic aberrations and the significance of marker chromosomes in the context of T-PLL. Considering the lack of consensus on the improvement of patient outcomes in the past two decades as well as the frequency of a complex karyotype in T-PLL, this case study highlights the critical need of continued research efforts in profiling complex cases to provide potential avenues for novel therapeutic targets for T-PLL patients.

Ring chromosome 7 in a child with T-cell acute lymphoblastic leukemia with myeloid markers.

Ring chromosomes are uncommon in hematological diseases. Here we present the case of a 13-year-old girl with leukocytosis, anemia, and lymphadenopathy. Flow cytometry analysis revealed a predominant precursor T lymphoid population expressing CD7, CD5, CD2, and cytoplasmic CD3 with partial expression of CD33, CD34, CD117, and CD11c; TdT was positive, and myeloperoxidase was negative. The bone marrow aspirate showed markedly increased blasts that were positive for CD3, CD7, CD34, TdT, and myeloperoxidase (rare positivity) by immunohistochemistry stain, consistent with T-cell acute lymphoblastic leukemia (T-ALL) extensively involving a hypercellular marrow for age. The karyotype showed a ring 7 in 12 of the 21 metaphase cells examined and deletions of the subtelomeric regions on chromosome 7. Deletions in the short arm of chromosome 7 and the long arm of chromosome 7 are present in 2% to 4% of pediatric T-ALL cases. Ring chromosome 7 is typically seen in myeloid malignancies, including acute myeloid leukemia.

Prevalência de sinais de sensibilidade ao látex em pacientes com mielomeningocele submetidos a múltiplos procedimentos cirúrgicos / Prevalence of sensitivity signals to latex in meningomyelocele patients undergoing multiple surgical procedures

JUSTIFICATIVA E OBJETIVOS: O número de pacientes alérgicos ao látex vem aumentando significativamente. É essencial reconhecê-los para preve nir e aplicar o tratamento adequado. O objetivo do estudo foi avaliar a prevalência de alergia ao látex em pacientes com mielomeningocele. MATERIAIS E MÉTODOS: Foram avaliados, retrospectivamente, os prontuários médicos de pacientes com diagnóstico de mielomeningocele no período de janeiro de 2002 a dezembro de 2007. Os pacientes foram agrupados em alérgicos e não alérgicos. A comparação dos grupos em relação ao gênero foi feita pelo teste do Qui-quadrado, pelo teste t de Student em relação à idade, e o teste de Mann-Whitney para comparação entre os grupos em relação as manifestações clínicas de alergia, número de procedimentos sob anestesia, de internações hospitalares e de cateterizações vesicais. RESULTADOS: O número médio de procedimentos sob anestesia foi de 7 no grupo com alergia e 4 no grupo sem alergia, sendo esta diferença estatisticamente significante (p = 0,028). O número médio de internações hospitalares foi de 4,5 no grupo com alergia e 3,4 no grupo sem alergia e a média de cateterização vesical foi 24,5 nos alérgicos e 21,7 nos não alérgicos. CONCLUSÕES: Os pacientes portadores de mielomeningocele submetidos a múltiplos procedimentos sob anestesia apresentam alto risco de desenvolvimento de sinais clínicos de alergia ao látex. Há necessidade de que pacientes com diagnóstico de mielomeningocele sejam submetidos exclusivamente a procedimentos latex-free, evitando o alto risco de sensibilização e suas complicações. Testes específicos para avaliação da sensibilização, marcadores genéticos e relação látex-fruta poderão contribuir para melhor entendimento dos fatores de risco relacionados à alergia ao látex e formas de prevenção.

BACKGROUND AND OBJECTIVES: The number of patients allergic to latex has increased significantly. It is crucial to recognize the cases in order to prevent and apply adequate treatment. The objective of this study was to evaluate the prevalence of allergy to latex in meningomyelocele patients. MATERIALS AND METHODS: A retrospective evaluation of medical records of patients with meningomyelocele diagnosis from January 2002 to December 2007 was conducted. Patients were grouped into allergics and non-allergics. The comparison of groups for gender was made by the Chi-Squared test, the Student's t test was used to compare age, and Mann-Whitney test was used to compare groups for clinical manifestations of allergy, number of procedures under anesthesia, hospital admissions and vesical catheterizations. RESULTS: The mean number of procedures under anesthesia was 7 in the group with allergy and 4 in the group without allergy; this difference was statistically significant (p = 0.028). The mean number of hospital admissions was 4.5 in the group with allergy and 3.4 in group without allergy and mean vesical catheterization was 24.5 in allergic patients and 21.7 in non allergic ones. CONCLUSIONS: Meningomyelocele patients undergoing multiple procedures under anesthesia have high risk of developing clinical signals of allergy to latex. It is necessary that patients with meningomyelocele diagnosis should undergo exclusively latex-free procedures, avoiding high risk of sensitization and its complications. Specific tests to evaluate sensitization, genetic markers and latex-fruit relationship may contribute to a better understanding of risk factors related to allergy to latex and ways to prevent it.

JUSTIFICATIVA Y OBJETIVOS: El número de pacientes alérgicos al látex ha venido aumentando significativamente. Es esencial reconocer los casos para prevenir y aplicar el tratamiento adecuado. El objetivo del estudio, fue evaluar la prevalencia de alergia al látex en pacientes con mielomeningocele. MATERIAL Y MÉTODOS: Fueron evaluadas retrospectivamente, las historias clínicas de pacientes con diagnóstico de mielomeningocele en el período de enero de 2002 a diciembre de 2007. Los pacientes fueron agrupados en alérgicos y no alérgicos. La comparación de los grupos con relación al sexo se hizo por medio del test del Xi-Cuadrado (Xi²), por el test t de Student con relación a la edad, y el test de Mann-Whitney para la comparación entre los grupos, con relación a las manifestaciones clínicas de alergia, número de procedimientos bajo anestesia, de ingresos hospitalarios y de cateterizaciones vesicales. RESULTADOS: El número promedio de procedimientos bajo anestesia fue de 7 en el grupo con alergia y 4 en el grupo sin alergia, siendo que esa diferencia es estadísticamente significativa (p = 0,028). El número promedio de ingresos fue de 4,5 en el grupo con alergia y de 3,4 en el grupo sin alergia, y el promedio de cateterización vesical fue 24,5 en los alérgicos y de 21,7 en los no alérgicos. CONCLUSIONES: Los pacientes portadores de mielomeningocele sometidos a múltiples procedimientos bajo anestesia, presentan un alto riesgo de desarrollar signos clínicos de alergia al látex. Existe la necesidad de que pacientes con diagnóstico de mielomeningocele se sometan exclusivamente a procedimientos latex-free, evitando así el alto riesgo de sensibilización y sus complicaciones. Test específicos para la evaluación de la sensibilización, marcadores genéticos y relación látex-fruta, podrán contribuir para un mejor entendimiento de los factores de riesgo relacionados con la alergia al látex y con las formas de prevención.

Prevalence of sensitivity signals to latex in meningomyelocele patients undergoing multiple surgical procedures.

BACKGROUND AND OBJECTIVES: The number of patients allergic to latex has increased significantly. It is crucial to recognize the cases in order to prevent and apply adequate treatment. The objective of this study was to evaluate the prevalence of allergy to latex in meningomyelocele patients. MATERIALS AND METHODS: A retrospective evaluation of medical records of patients with meningomyelocele diagnosis from January 2002 to December 2007 was conducted. Patients were grouped into allergics and non-allergics. The comparison of groups for gender was made by the Chi-Squared test, the Student's t test was used to compare age, and Mann-Whitney test was used to compare groups for clinical manifestations of allergy, number of procedures under anesthesia, hospital admissions and vesical catheterizations. RESULTS: The mean number of procedures under anesthesia was 7 in the group with allergy and 4 in the group without allergy; this difference was statistically significant (p=0.028). The mean number of hospital admissions was 4.5 in the group with allergy and 3.4 in group without allergy and mean vesical catheterization was 24.5 in allergic patients and 21.7 in non allergic ones. CONCLUSIONS: Meningomyelocele patients undergoing multiple procedures under anesthesia have high risk of developing clinical signals of allergy to latex. It is necessary that patients with meningomyelocele diagnosis should undergo exclusively latex-free procedures, avoiding high risk of sensitization and its complications. Specific tests to evaluate sensitization, genetic markers and latex-fruit relationship may contribute to a better understanding of risk factors related to allergy to latex and ways to prevent it.