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i(3)(q10) in non-Hodgkin's lymphoma (NHL)
Get PDFPartial or complete chromosome 3 gains resulting from the presence of trisomy 3, unbalanced translocation or isochromosome formation has been observed in different types of non-Hodgkin's lymphomas (NHL). Among them, the isochromosome of the long arm of chromosome 3 is a relatively rare chromosome aberration, associated mainly with B-cell NHL. However, its occurrence is not restricted to lymphomas, as the detection of +i(3)(q10) is considered a specific marker of polyclonal B-cell lymphocytosis with binucleated lymphocytes (PPBL) associated with an increase frequency of chromosome 3 instability as well as it may also be found in myeloid malignancies
ins(X;11)(q28;q23q23) KMT2A/FLNA::ins(11;X)(q23;q28q12) KMT2A/FLNA
Get PDFIns(11;X)(q23;q28q12) and ins(X;11)(q28;q23q23) are found so far in acute myelomonocytic leukaemia and carries a poor prognosis. The genes implicated in this disease are KMT2A and FLNA
t(7;14)(p15;q32)
Get PDFRearrangements of T-cell receptor (TCR) genes are characteristic chromosomal abnormalities in a variety of T-cell malignancies, particularly in T-cell lymphoblastic leukemia/lymphomas, but TCR-gamma gene or TCL1A (TCR-T-cell leukemia/lymphoma 1A) rearrangements are rare
Nouveau modèle stratigraphique et génétique pour les réservoirs dolomitiques du Pinda (Crétacé, Angola). IIe Partie – Preuves irréfutables contre une dolomitization et une dissolution précoces
Get PDFThis is the second contribution to the stratigraphic and genetic model of the Pinda Group. The mid-Cretaceous Pinda Group of the Congo basin in the northern Angolan offshore is a transgressive supersequence. Its lower part is made of Bufalo and Pacassa facies that correspond respectively to mixed and calcareous-dolomitic grain-dominated fabrics. Both facies were strongly diagenetically altered, mostly by dolomitic replacement and leaching. Contrary to opinions expressed by other authors that both styles of alteration are early diagenetic phenomena, there is substantial evidence for a burial origin with dolomitic replacement and leaching of calcite having started at depths not less than 150 m and 400 m, respectively.Il s'agit ici de la deuxième contribution au modèle génétique et stratigraphique du Pinda. Le Groupe Pinda du Crétacé moyen constitue une mégaquence transgressive au large de la partie septentrionale de l'Angola dans le bassin du Congo. Sa partie inférieure est constituée par les faciès Búfalo et Pacassa qui correspondent respectivement à des roches sédimentaires mixtes et calcaires-dolomitiques à dominante grenue. Ces deux types de sédiments ont subi de fortes altérations diagénétiques, essentiellement par du remplacement de la calcite par de la dolomite et par dissolution de la calcite restante. Contrairement aux opinions exprimées par d'autres auteurs selon lesquelles ces processus sont attribuables à une diagénèse précoce, il existe un faisceau d'arguments solides en faveur d'une origine liée au processus d'enfouissement avec notamment un remplacement par de la dolomite et de la dissolution ayant débuté respectivement à des profondeurs d'enfouissement d'au moins 150m et 400m
GLS (Glutaminase)
Get PDFAfter metabolic reprogramming, many cancer cells become glutamine addicted, that is, they depend on a high consumption of this amino acid for their survival and proliferation. Glutaminase catalyzes the stoichiometric conversion of L-glutamine to L-glutamate and ammonium ions, the first step of glutaminolysis. GLS gene encodes two isoforms, known as kidney-type glutaminase (KGA) and glutaminase C (GAC). Upregulation of GLS is a common feature of many tumors and, in recent years, this enzyme and its interacting partners have attracted much attention as potential new targets for cancer therapy. Considerable effort is being devoted towards the development of small-molecule inhibitors of GLS
Interdigitating Dendritic Cell Sarcoma
Get PDFInterdigitating Dendritic Cell Sarcoma (IDCS) is a very uncommon neoplasm embedded in the group of histiocytic and dendritic cell neoplasms. IDCS is a diagnosis of exclusion, being mandatory the preclusion of follicular dendritic cell sarcoma, histiocytic sarcoma, melanoma, and metastases, among another neoplasm. The clinical course is aggressive. BRAF V600E has been reported in IDCS
dic(7;9)(p11-13;p11)
Get PDFDicentric (7;9)(p11-13;p11) is a rare but recurrent abnormality in pediatric and adult precursor B acute lymphoblastic leukemia (B-ALL). The rarity precludes a deep understanding of its biology and associated prognosis. However, recent findings have correlated dic(7;9) and PAX5 mutations, highlighting this cytogenetic event's involvement in leukemogenesis and may also shed light on the overall prognosis of dic(7;9) B-ALL