Ultraconserved long non-coding RNA uc 112 is highly expressed in childhood T versus B-cell acute lymphoblastic leukemia

ABSTRACT Aberrant expression of long non-coding RNAs (lncRNAs) has been detected in several types of cancer, including acute lymphoblastic leukemia (ALL), but lncRNA mapped on transcribed ultraconserved regions (T-UCRs) are little explored. The T-UCRs uc.112, uc.122, uc.160 and uc.262 were evaluated by quantitative real-time PCR in bone marrow samples from children with T-ALL (n = 32) and common-ALL/pre-B ALL (n = 30). In pediatric ALL, higher expression levels of uc.112 were found in patients with T-ALL, compared to patients with B-ALL. T-cells did not differ significantly from B-cells regarding uc.112 expression in non-tumor precursors from public data. Additionally, among B-ALL patients, uc.112 was also found to be increased in patients with hyperdiploidy, compared to other karyotype results. The uc.122, uc.160, and uc.262 were not associated with biological or clinical features. These findings suggest a potential role of uc.112 in pediatric ALL and emphasize the need for further investigation of T-UCR in pediatric ALL.

Pseudohyperkalemia and Pseudohyponatremia in Two Children with T-Cell Acute Lymphoblastic Leukemia.

Pseudohyperkalemia and pseudohyponatremia are phenomena in which hematologic disorders with high cell counts result in factitious electrolyte measurements that can result in inappropriate treatment. We describe 2 children with leukemia presenting with both disturbances to highlight the importance of correlating electrolyte results from plasma with those from whole blood before intervening.

Immunophenotyping with CD135 and CD117 predicts the FLT3, IL-7R and TLX3 gene mutations in childhood T-cell acute leukemia.

With the combination of immunophenotyping and molecular tests, it is still a challenge to identify the characteristics of T cell acute lymphoblastic leukemia (T-ALL) associated with distinct outcomes. This study tests the possible correlation of cellular expression of CD135 and CD117 with somatic gene mutations in T-ALL. One hundred sixty-two samples were tested, including 143 at diagnosis, 15 from T-lymphoblastic lymphoma at relapse, and four relapse samples from sequential follow-up of T-ALL. CD135 and CD117 monoclonal antibodies were included in the T-ALL panel of flow cytometry. The percentage of cells positivity and the median fluorescence intensity were correlated with gene mutational status. STIL-TAL1, TLX3, FLT3 and IL7R mutations were tested using standard techniques. STIL-TAL1 was found in 24.8%, TLX3 in 12%, IL7R in 10% and FLT3-ITD in 5% of cases. FLT3 and IL7R mutations were mutually exclusive, as were FLT3-ITD and STIL-TAL1. Associations of CD135(high) (p<0.01), CD117(intermediate/high) (p=0.02) and FLT3-ITD, CD117(low) with IL7R(mutated) (p<0.01) and CD135(high) with TLX3(pos) were observed. We conclude that the addition of CD135 and CD117 to the diagnosis can predict molecular aberrations in T-ALL settings, mainly segregating patients with FLT3-ITD, who would benefit from treatment with inhibitors of tyrosine.

[Systemic lymphoma cells with T precursor condition of extreme female genital tract. A case report and literature review]. / Linfoma linfoblástico sistémico de células precursoras T con afección extrema del aparato genital femenino. Reporte de un caso y revisión de la bibliografía.

Primary female genital tract non Hodgkin's lymphoma is a rare presentation for a common disease in the childhood, and its classification as primary extranodal lymphoma is still controversial. There are a few cases reported as a primary precursor B-cell lymphoblastic lymphoma of the female genital tract, but there is not any case reported as primary precursor T-cell lymphoblastic lymphoma of the ovary in childhood. Herein we describe a 16 years old young woman with bilateral ovarian tumors, paraaortic lymphoadenophaty and disseminate disease to the female genital tract including extension of the tumor to neighboring organs like the omentum and the appendix. Exploratory laparatomy were performed with bilateral salpingo-oophorectomy, hysterectomy, omentectomy, appendectomy, pelvic and para-aortic lymphadenectomy, pelvic washings and with biopsy of vaginal vault. The chemotherapy regimen comprised of CHOP (Cyclophosphamide, Hydroxydaunorubicin, Oncovin, Prednisone/Prednisolone) and methotrexate, 3 months later presents left facial hemiparesia follow by right facial hemiparesia, 7 months later presents more Central Nervous System (CNS) complications and apparently was complicated with acute lymphocitic leukemia and after 16 months from the diagnosis, following by a torpid evolution, the pacient finally died.

Dificuldade diagnóstica em dois casos de neoplasia de células linfóides precursoras cutâneas primárias / Diagnostic pitfalls in two cases of primary cutaneous neoplasia of precursor lymphocytes

O linfoma linfoblástico (LLB) é uma neoplasia maligna de linfócitos precursores (B, T ou células NK). O comprometimento primário da pele é raro. Relatamos as características clínicas, anatomopatológicas e imunofenotípicas em dois pacientes com apresentação cutânea primária que, histologicamente, apresentavam infiltrado de células imaturas. A análise imunofenotípica foi realizada com amplo painel de anticorpos. A pesquisa de rearranjo no gene do receptor de células T (TCR-gama) pelo método de reação em cadeia da polimerase (PCR) resultou positiva em um caso, que era CD56 positivo, classificado como linfoma de células NK blásticas-símile. Este caso representa uma entidade distinta derivada de células precursoras num estágio precoce de uma via comum de diferenciação para células T e NK. O outro caso foi classificado como LLB-T com expressão aberrante de CD79a, o que poderia ser erroneamente interpretado. O diagnóstico correto depende da utilização de um amplo painel de anticorpos para caracterização imunofenotípica e avaliação molecular.

The lymphoblastic lymphoma (LBL) is a malignant neoplasm of precursor lymphocytes (B, T or NK-cells). The primary involvement of the skin is rare. We examined the clinical, anatomopathological and immunophenotypic features of two patients with primary cutaneous involvement. Histologically they showed an infiltrate of immature cells. The immunophenotypic analysis was performed with a comprehensive panel of antibodies. T-cell receptor rearrangement (TCR-gamma) was analyzed with polymerase chain reaction (PCR) and it was positive in one case, which was CD56 positive, classified as blastic NK-cell-like lymphoma. This case represents a distinct entity derived from precursor cells at an early stage of a common developmental pathway for T and NK cells. The other case was classified as T-cell lymphoblastic lymphoma with aberrant expression of CD79a, what could be a diagnostic pitfall. The accurate diagnosis depends on the use of a comprehensive panel of antibodies for immunophenotypic characterization and molecular analysis.

The significance of phenotyping leukemias using monoclonal antibodies

1. Acute leukemias have been defined as major types as of lymphoblastic and myeloblastic leuckemias according to morphological and cytochemical criteria. 2. The thecnical improvements and standardization of immunofluorescence and immunocytology staining methods have provied new insights for classifying these disorders on the basis of monoclonal antibodies. 3. The scheme used to describe normal lymphoid and myeloid differentiation, when also used to describe their malignant counterparts, provides a well-established model for the immunological classification of acute leukemias. 4. In this review article, we suggest some guidelines for performing a series of cytochemical reactions using immunological markers to ensure a reliable diagnosis of acute leukemia