scholarly journals Comorbidity in patients with lymphoproliferative diseases

2020 ◽  
Vol 96 (7) ◽  
pp. 508-514
Author(s):  
E. V. Ignatyeva ◽  
E. V. Kryukov ◽  
V. A. Chernetsov ◽  
О. A. Rukavitsyn
Keyword(s):  
T Cell ◽  
Charlson Comorbidity Index ◽  
Rating Scale ◽  
Cell Leukemia ◽  
Lymphoproliferative Diseases ◽  
Prolymphocytic Leukemia ◽  
Number Of Patients ◽  
Comorbidity Index ◽  
Hodgkin's Lymphomas ◽  
Immunodeficiency States

Purpose of the study. To make an informed assessment of comorbidity in patients with lymphoproliferative diseases. To evaluate the effectiveness of comorbidity scales CCI and CIRS-G in patients with lymphoproliferative diseases under treatment. To evaluate the effect of the conducted immunochemotherapy on the general comorbidity in this category of patients.Material and methods. Two scales were used for calculations: Charlson Comorbidity Index (CCI) and Cumulative Illness Rating Scale for Geriatrics (CIRS-G). 127 primary patients with lymphoproliferative diseases aged 19 to 95 years old (the average age was 51.4) were examined from January 2018 till October 2019. The distribution of patients was based on the types of diseases: non-Hodgkin’s lymphomas — 59 (46.46%), Hodgkin’s lymphoma — 35 (27.56%), multiple myeloma — 20 (15.77%), chronic lymphocytic leukemia — 7 (5.51%) people, Waldenstrom’s macroglobulinemia — 3 (2.36%); each of the following diseases: hairy cell leukemia, T-cell leukemia of large granular lymphocytes, T-cell prolymphocytic leukemia - 1, amounted to 0.78% each.Results. Comorbidity was detected in 46 patients who received immunotherapy, chemotherapy, combined chemoradiotherapy, which amounted to 36.22% of the total number of patients. Lesions of the peripheral and central nervous system — 20 (43.48%) patients, were diagnosed most frequently. Immunodefi ciency states — 19 (41.30%) people, came next, and diseases of the cardiovascular system — 12 (26.08%) patients, appeared to be least frequent.Conclusions. When recalculating comorbidity on the CCI and CIRS-G scales, a significant aggravation of comorbidity after treatment, an increase in moderate and severe comorbidity were noted. According to the effectiveness of the CCI and CIRS-G scales in the treated patients, comorbidity is evaluated only approximately, since the Charlson Comorbidity Index does not include polyneuropathy, immunodeficiency states, thrombosis, ischemic heart disease, cardiac arrhythmias, gastritis, and thromboembolic complications and immunodeficiency states are absent in the CIRS-G scale. It is advisable to develop scales for assessing comorbidity, free from disadvantages mentioned above.

Risikoabschätzung einer akuten Exazerbation bei COPD-Patienten im Rahmen einer pneumologischen Anschluss-Rehabilitation anhand der Prävalenz und Schwergradausprägung von Komorbiditäten

Pneumologie ◽  
2021 ◽  
Author(s):  
P. Luu ◽  
S. Tulka ◽  
S. Knippschild ◽  
W. Windisch ◽  
M. Spielmanns
Keyword(s):  
Receiver Operating Characteristic ◽  
Charlson Comorbidity Index ◽  
Operating Characteristic ◽  
Rating Scale ◽  
Area Under The Curve ◽  
Sensitivität Und Spezifität ◽  
Comorbidity Index ◽  
Receiver Operating

Zusammenfassung Einleitung Akute COPD-Exazerbationen (AECOPD) im Rahmen einer pneumologischen Rehabilitation (PR) sind häufige und gefährliche Komplikationen. Neben Einschränkungen der Lebensqualität führen sie zu einem Unterbrechung der PR und gefährden den PR-Erfolg. Eine Abhängigkeit zwischen dem Krankheitsstatus und einem erhöhten Risiko für eine AECOPD ist beschrieben. Dabei stellt sich die Frage, ob der Charlson Comorbidity Index (CCI) oder die Cumulative Illness Rating Scale (CIRS) dafür geeignet sind, besonders exazerbationsgefährdete COPD-Patienten in der PR im Vorfeld zu detektieren. Patienten und Methoden In einer retrospektiven Untersuchung wurden die Daten von COPD-Patienten, welche im Jahr 2018 eine PR erhielten, analysiert. Primärer Endpunkt der Untersuchung war die Punktzahl im CCI. Alle Daten wurden dem Klinikinformationssystem Phönix entnommen und COPD-Exazerbationen erfasst. Die laut Fallzahlplanung benötigten 44 Patienten wurden zufällig (mittels Zufallsliste für jede Gruppe) aus diesem Datenpool rekrutiert: 22 Patienten mit und 22 ohne Exazerbation während der PR. CCI und CIRS wurden für die eingeschlossenen Fälle für beide Gruppen bestimmt. Die Auswertung des primären Endpunktes (CCI) erfolgte durch den Gruppenvergleich der arithmetischen Mittel und der Signifikanzprüfung (Welch-Tests). Weitere statistische Lage- und Streuungsmaße wurden ergänzt (Median, Quartile, Standardabweichung).Zusätzlich wurde mittels Receiver Operating Characteristic (ROC)-Analyse sowohl für den CCI als auch für den CIRS ein optimaler Cutpoint zur Diskriminierung in AECOPD- und Nicht-AECOPD-Patienten gesucht. Ergebnisse 244 COPD-Patienten erhielten eine stationäre PR von durchschnittlich 21 Tagen, wovon 59 (24 %) während der PR eine behandlungspflichtige AECOPD erlitten. Die ausgewählten 22 Patienten mit einer AECOPD hatten einen mittleren CCI von 6,77 (SD: 1,97) und die 22 Patienten ohne AECOPD von 4,32 (SD: 1,17). Die Differenz von –2,45 war zu einem Signifikanzniveau von 5 % statistisch signifikant (p < 0,001; 95 %-KI: [–3,45 ; –1,46]). Die ROC-Analyse zeigte einen optimalen Cutpoint für den CCI bei 6 mit einer Sensitivität zur Feststellung einer AECOPD von 81,8 % und einer Spezifität von 86.,4 % mit einem Wert der AUC (area under the curve) von 0,87. Der optimale Cutpoint für den CIRS war 19 mit einer Sensitivität von 50 %, einer Spezifität von 77,2 % und einer AUC von 0,65. Schlussfolgerung COPD-Patienten mit einer akuten Exazerbation während der pneumologischen Rehabilitation haben einen höheren CCI. Mithilfe des CCI lässt sich mit einer hohen Sensitivität und Spezifität das Risiko einer AECOPD von COPD-Patienten im Rahmen eines stationären PR-Programms einschätzen.

scholarly journals CARD11 Mutation Induces Oligoclonal Expansion of T-Cells, and Accelerates ATL Development in Combination with HBZ

Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 17-18
Author(s):  
Takuro Kameda ◽  
Kotaro Shide ◽  
Ayako Kamiunten ◽  
Tahira Yuki ◽  
Masaaki Sekine ◽  
...  
Keyword(s):  
T Cell ◽  
Research Funding ◽  
Gene Mutations ◽  
Cd4 T Cell ◽  
Cell Leukemia ◽  
Cd4 Cells ◽  
Lymphoproliferative Diseases ◽  
Proliferation Indices ◽  
Alveolar Septum ◽  
Oligoclonal Expansion

Adult T-cell leukemia/lymphoma (ATL) is an aggressive peripheral T-cell lymphoma that develops in about 5% of human T-cell leukemia/lymphoma virus 1 (HTLV-1) carriers. In addition to viral oncogenes, namely tax and HTLV-1 bZIP factor (HBZ), gene mutations, highly enriched for T-cell receptor (TCR)-NF-kB signaling, should be involved in the development of ATL. Among gene mutations, mutation in CARD11, a cytoplasmic scaffolding protein required for TCR-induced NF-kB activation, was detected in 24% of ATL patients. Here we generated a mouse model for conditional expression of a human ATL-derived CARD11(E626K) gain-of-function mutant, and demonstrated CARD11 activation induced oligoclonal expansion of T-cell and infiltration to many organs. We also showed that expression of HBZ accelerated mutant CARD11-induced lymphoproliferative diseases. We introduced a human Card11(E626K) into the mouse genome at the ROSA26 locus. After crossing with CD4-Cre Tg, CARD11(E626K)CD4-Cre mice was obtained. In CD4+ cells from CARD11(E626K)CD4-Cre, the amount of cleaved BCL-10 and NF-kBp65 increased compared with those in WT CD4+cells, confirming the activation of NF-kB. About half of CARD11(E626K)CD4-Cre mice died on or after 6 months after birth. At 6 months, leukocytosis was observed in CARD11(E626K)CD4-Cre, and accordingly the number of CD4+ cells cells was about 1.43 times greater than those in WT mice. The most affected organ in CARD11(E626K)CD4-Cre mice was lung. Alveolar septum was thickened by infiltrated cells at 6 months, and worsened subsequently. CD3+ T-cell accumulated around capillary blood vessels, and had high proliferation indices (&gt;50%), as assayed by Ki-67 staining. CARD11(E626K)CD4-Cre mice developed lymphadenopathy (4/8 mice (50%) at 6M and 4/6 mice (66.7%) at 12M). Normal lymph node (LN) architecture was barely preserved, and medullary sinus was expanded with CD3+ T-cell. Some of them were positive for FoxP3, and had moderate proliferation indices (25%-50%). Among CD4+ T-cell, the proportion of naive T-cell (Tn) decreased, and that of effector/memory T-cell (Tem) and regulatory T-cell (Treg) increased compared to WT LNs. The proportion of Treg in CD4+ T-cell from LN of 6M- and 12M-old CARD11(E626K)CD4-Cre mice was 25% and 40%, respectively, which values were much larger than the normal range as 10-15%. We next examined the clonality of CD4+ cells in spleen and swollen LNs from CARD11(E626K)CD4-Cre mice. The clonality of the TCR repertoires of 20 individual Vb gene famines from Vb1-20 was assessed by a PCR. The clonality assay using the TCR repertoires exhibited an oligoclonal pattern in 4 of 5 splenic CD4+ cells, and 1 of 2 LN CD4+ cells from CARD11(E626K)CD4-Cre mice. To assess the effect of HBZ constant expression on CARD11(E626K)CD4-Cre mice, we generated HBZ Tg, in which HBZ cDNA was expressed under the CD4 promoter. Similar to the previous report (by Satou et al.), our HBZ Tg showed increased number of Tem, destroyed architecture of lung such as thickened alveolar septum by infiltrated cells and decreased alveolar space by edema, and the lymphadenopathy after 12M (66.7%). We then crossed CARD11(E626K)CD4-Creand HBZ Tg, and obtained the compound mice. The compound mice caused more aggressive lymphoproliferative diseases compared with CARD11(E626K)CD4-Cre mice. Most of compound mice died within 8M. At 6M, architecture of lung, kidney, spleen, and LN was destroyed. In lung, alveolar space of lung was scarcely observed caused of T-cell invasion. Alveolar septum was thickened with infiltrated cells, and CD3+ cells accumulated around capillary blood vessel. Some of them were positive for FoxP3, and indicated moderate proliferation indices (25-50%). T-cell invasion was also observed in kidney. Lymphadenopathy was detected in 6 of 9 (66.7%) with completely destroyed architecture, increment of the proportion of Fox3+ cells, and moderate proliferation indices (25-50%). The clonality assay using the TCR repertoires exhibited an oligoclonal pattern in 4 of 4 splenic CD4+ cells, and 2 of 2 LNs CD4+ cells from compound mice. These results suggest that CARD11 mutant-induced NFkB activation and constant HBZ expression may have similar effects, such as T-cell infiltration into organs and LN adenopathy, and that the simultaneous occurrence of both may have additive effects. Disclosures Sugiyama: Chordia Therapeutics, Japan.: Current Employment. Morishita:Chordia Therapeutics Inc.: Current Employment, Current equity holder in private company. Shimoda:Perseus Proteomics: Research Funding; PharmaEssentia Japan: Research Funding; AbbVie Inc.: Research Funding; Astellas Pharma: Research Funding; Merck & Co.: Research Funding; CHUGAI PHARMACEUTICAL CO., LTD.: Research Funding; Kyowa Hakko Kirin Co., Ltd.: Research Funding; Pfizer Inc.: Research Funding; Otsuka Pharmaceutical: Research Funding; Asahi Kasei Medical: Research Funding; Japanese Society of Hematology: Research Funding; The Shinnihon Foundation of Advanced Medical Treatment Research: Research Funding; Celgene: Honoraria; Shire plc: Honoraria; Novartis: Honoraria, Research Funding; Takeda Pharmaceutical Company: Honoraria; Bristol-Myers Squibb: Honoraria.

scholarly journals Nonnasal Lymphoma Expressing the Natural Killer Cell Marker CD56: A Clinicopathologic Study of 49 Cases of an Uncommon Aggressive Neoplasm

Blood ◽  
1997 ◽  
Vol 89 (12) ◽  
pp. 4501-4513 ◽  
Author(s):  
John K.C. Chan ◽  
V.C. Sin ◽  
K.F. Wong ◽  
C.S. Ng ◽  
William Y.W. Tsang ◽  
...  
Keyword(s):  
T Cell ◽  
Natural Killer ◽  
Nk Cell ◽  
Cell Lymphoma ◽  
T Cell Lymphoma ◽  
Cell Leukemia ◽  
Neoplastic Cells ◽  
Prolymphocytic Leukemia ◽  
Nasal Type ◽  
Nk T Cell

Abstract Expression of the natural killer (NK) cell antigen CD56 is uncommon among lymphomas, and those that do are almost exclusively of non–B-cell lineage and show a predilection for the nasal and nasopharyngeal region. This study analyzes 49 cases of nonnasal CD56+ lymphomas, the largest series to date, to characterize the clinicopathologic spectrum of these rare neoplasms. All patients were Chinese. Four categories could be delineated. (1) Nasal-type NK/T cell lymphoma (n = 34) patients were adults 21 to 76 years of age (median, 50 years), including 25 men and 9 women. They presented with extranodal disease, usually in multiple sites. The commonest sites of involvement were skin, upper aerodigestive tract, testis, soft tissue, gastrointestinal tract, and spleen. Only 7 cases (21%) apparently had stage I disease. The neoplastic cells were often pleomorphic, with irregular nuclei and granular chromatin, and angiocentric growth was common. The characteristic immunophenotype was CD2+ CD3/Leu4− CD3ε+ CD56+, and 32 cases (94%) harbored Epstein-Barr virus (EBV). Follow-up information was available in 29 cases: 24 died at a median of 3.5 months; 3 were alive with relapse at 5 months to 2.5 years; and 2 were alive and well at 3 and 5 years, respectively. (2) Aggressive NK cell leukemia/lymphoma (n = 5) patients presented with hepatomegaly and blood/marrow involvement, sometimes accompanied by splenomegaly or lymphadenopathy. The neoplastic cells often had round nuclei and azurophilic granules in the pale cytoplasm. All cases exhibited an immunophenotype of CD2+ CD3/Leu4− CD56+ CD16− CD57− and all were EBV+. All of these patients died within 6 weeks. (3) In blastoid NK cell lymphoma (n = 2), the lymphoma cells resembled those of lymphoblastic or myeloid leukemia. One case studied for CD2 was negative and both cases were EBV−. One patient was alive with disease at 10 months and one was a recent case. (4) Other specific lymphoma types with CD56 expression (n = 8) included one case each of hepatosplenic γδ T-cell lymphoma and S100 protein+ T-cell lymphoproliferative disease and two cases each of T-chronic lymphocytic/prolymphocytic leukemia, lymphoblastic lymphoma, and true histiocytic lymphoma. All of these cases were EBV−. Six patients died at a median of 6.5 months. Nonnasal CD56+ lymphomas are heterogeneous, but all pursue a highly aggressive clinical course. The nasal-type NK/T-cell lymphoma and aggressive NK cell leukemia/lymphoma show distinctive clinicopathologic features and a very strong association with EBV. Blastoid NK cell lymphoma appears to be a different entity and shows no association with EBV.

scholarly journals Leukopenic chronic T cell leukemia mimicking hairy cell leukemia: association with human retroviruses

Blood ◽  
1986 ◽  
Vol 67 (4) ◽  
pp. 949-956 ◽  
Author(s):  
CC Sohn ◽  
DW Blayney ◽  
JL Misset ◽  
G Mathe ◽  
G Flandrin ◽  
...  
Keyword(s):  
T Cell ◽  
Hairy Cell Leukemia ◽  
Sheep Erythrocyte ◽  
The Other ◽  
Leukemic Cells ◽  
Type I ◽  
T Cell Leukemia ◽  
Hairy Cell ◽  
Cell Leukemia ◽  
Prolymphocytic Leukemia

Abstract We report two cases of a T cell lymphoproliferative disease not previously described, with cytologic and clinical features similar to those associated with Galton's “prolymphocytic” leukemia (PL). Our patients, like those with Galton's PL, had massive splenomegaly and minimal or absent hepatomegaly and lymphadenopathy. In contrast, however, our patients had leukopenia, as well as low percentages of leukemic cells in the peripheral blood and in the bone marrow. In splenic imprints, the nuclear chromatin pattern of most of the leukemic cells was intermediate between those of mature lymphocytes and those of lymphoblasts, and the nuclei contained single, centrally located, conspicuous nucleoli. In sections of the spleen, the leukemic cells diffusely infiltrated the red pulp in a pattern strikingly similar to that of hairy cell leukemia; however, when the leukemic cells were studied cytochemically, the cytoplasmic acid phosphatase positivity was punctate and tartrate-sensitive. The leukemic cells were sheep erythrocyte rosette-positive and expressed T cell-associated antigens. Initially, both patients responded well to therapeutic splenectomy. One patient received combination chemotherapy after splenectomy and is alive and well 24 months after diagnosis. The other patient was in complete clinical remission for one year after splenectomy and received chemotherapy at relapse. He died, however, 23 months after splenectomy, with disseminated disease. IgG antibody titers against human T lymphotropic virus type I (HTLV-I) were detected in one patient and against HTLV-II in the other. The leukemia in these patients represents a distinct clinicopathologic entity within the spectrum of peripheral T cell lymphoproliferative diseases that includes Galton's PL of T cell derivation, T cell chronic lymphocytic leukemia, T cell hairy cell leukemia, and adult T cell leukemia/lymphoma.

scholarly journals Μελέτη συσχέτισης προεγχειρητικών και διεγχειρητικών δεικτών συννοσηρότητας σε ουρολογικές επεμβάσεις

2021 ◽  
Author(s):  
Ειρήνη Σαρρή
Keyword(s):  
Apgar Score ◽  
Charlson Comorbidity Index ◽  
Rating Scale ◽  
Comorbidity Index ◽  
American Society ◽  
American Society Of Anesthesiologists

Συσχέτιση των προεγχειρητικών δεικτών συνοδού νοσηρότητας με δείκτες περι- και μετεγχειρητικού κινδύνου σε ασθενείς που υποβάλλονται σε ουρολογικές επεμβάσεις. Εισαγωγή και σκοπός: Η συχνότητα της μετεγχειρητικής νοσηρότητας και θνητότητας χρησιμοποιείται σαν ποιοτικός δείκτης των υπηρεσιών υγείας. Τα μεγέθη προβλέπονται με δείκτες όπως ο POSSUM, ενώ ο μετεγχειρητικός κίνδυνος μπορεί να υπολογισθεί με βάση το χειρουργικό Apgar score. Η προεγχειρητική συνοδός νοσηρότητα μπορεί όμως να επηρρεάζει τους περιεγχειρητικούς δείκτες και συνακόλουθα, την νοσηρότητα και θνησιμότητα. Σκοπός της μελέτης ήταν η εκτίμηση της συσχέτισης της προεγχειρητικής συνοδού νοσηρότητας και άλλων προεγχειρητικών δεικτών με δείκτες περι- και μετεγχειρητικού κινδύνου. Υλικό και Μέθοδοι: Στη μελέτη συμπεριελήφθησαν 100 ασθενείς που υπεβλήθησαν σε μείζονες, ανοικτές, ουρολογικές επεμβάσεις (39 νεφρεκτομές, 43 ριζικές προστατεκτομές, 18 ριζικές κυστεκτομές). Η προεγχειρητική συνοδός νοσηρότητα υπολογίσθηκε με τους δείκτες: Charlson Comorbidity Index (CCI), age-adjusted CCI (AA-CCI), Cumulative Illness Rating Scale (CIRS), Index of Co-Existent Diseases (ICED). Ο προεγχειρητικός κίνδυνος εκτιμήθηκε με τον δείκτη ASA (American Society of Anesthesiologists) και η προεγχειρητική λειτουργική κατάσταση με τα μεταβολικά ισοδύναμα (MET). Οι περιεγχειρητικοί δείκτες ήταν ο POSSUM και το χειρουργικό Apgar score. Αποτελέσματα: Οι τιμές (min-max, μέση±ΣΑ) των διαφόρων δεικτών ήταν: CCI: 0-8, 1,5±1,8, AA-CCI: 0-11, 3,7±2,4, CIRS: 0-8, 3,0±2,1, ICED: 0-16, 4,7±3,9, ASA: 0-4, 2,2±0,7, MET: 2-6, 3,8±0,9, POSSUM: 20-44, 27,6±5,1 και χειρουργικό Apgar: 0-10, 6,2±1,4. Ολοι οι προεγχειρητικοί δείκτες έδειξαν στατιστικά σημαντική συσχέτιση με τον POSSUM (αντίστοιχα r2: 0,146, 0,148, 0,191, 0,260, 0,135 και 0,061), ενώ δεν σημειώθηκε στατιστικά σημαντική συσχέτιση κάποιου από αυτούς με το χειρουργικό Apgar score. Συμπεράσματα: Η μετεγχειρητική κατάσταση (χειρουργικό Apgar score) είναι ανεξάρτητη της προεγχειρητικής συνοδού νοσηρότητας, άρα απαιτείται καλύτερος προσδιορισμός των διεγχειρητικών παραγόντων που καθορίζουν τον μετεγχειρητικό κίνδυνο νοσηρότητας/θνησιμότητας. Αντίθετα, οι προεγχειρητικοί δείκτες συνοδού νοσηρότητας και χειρουργικού κινδύνου συσχετίζονται με περιεγχειρητικούς δείκτες πρόβλεψης κινδύνου νοσηρότητας/θνητότητας. Η αναφορά των δεικτών αυτών θα πρέπει να γίνεται ανάλογα με την προεγχειρητική νοσηρότητα προκειμένου να μπορεί να γίνει με δίκαιο τρόπο η σύγκριση της απόδοσης χειρουργών και νοσοκομείων σε συγκεκριμένες επεμβάσεις.

Mutational Analysis of NOTCH1 Gene in Mature T-Cell Leukemia/Lymphoma.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 4656-4656
Author(s):  
Daisuke Shimizu ◽  
Tomohiko Taki ◽  
Atae Utsunomiya ◽  
Hitoshi Nakagawa ◽  
Kenichi Nomura ◽  
...  
Keyword(s):  
T Cell ◽  
High Performance ◽  
Mutational Analysis ◽  
Lymphoblastic Leukemia ◽  
Chromosomal Rearrangements ◽  
T Cell Leukemia ◽  
Cell Leukemia ◽  
Prolymphocytic Leukemia ◽  
Adult T Cell Leukemia ◽  
Non Hodgkin Lymphoma

Abstract A somatic mutation of the NOTCH1 gene is frequently observed in T-cell acute lymphoblastic leukemia (T-ALL) of immature T-cell leukemia, but its prevalence in mature T-cell leukemia/lymphoma remains unknown. T-cell non-Hodgkin lymphomas (T-NHL) are relatively uncommon malignancies that represent approximately 12% of all lymphomas. The current WHO/EORTC classification recognizes 9 distinct clinicopathologic peripheral T-NHLs. The identification of genetic abnormalities and chromosomal rearrangements has been helpful in recognizing and defining lymphoma entities according to the WHO classification. However, the molecular changes that could play a role in leukemogenesis and progression remain unknown. NOTCH1 gene mutation was analyzed in 53 mature T-cell leukemia/lymphoma in adults, comprising 21 with adult T-cell leukemia (ATL), 25 with T-cell non-Hodgkin lymphoma (T-NHL), seven with T-cell prolymphocytic leukemia (T-PLL). We analyzed the hotspots of the NOTCH1 activating mutation in T-ALL cases located in exons 26 and 27, which encodes the N-terminal and C-terminal region of the heterodimerization (HD-N, HD-C) domain, and in exon 34, which encodes the PEST domain and terminal activation domain (TAD). Mutation detection in these two locations was performed by means of PCR-based denaturing high-performance liquid chromatography (dHPLC) using a WAVE DNA fragment analysis system followed by sequencing. We detected a nonsense mutation, C7249T, resulting in Q2417X, in an ATL patient, and a missense mutation, A6955G, resulting in M2319V, as well as a 3-bp deletion between 7234 and 7236 that resulted in deletion of the proline at codon 2412 in the same allele in a T-NHL, peripheral T-cell lymphoma, unspecified (PTCL-u), patient. NOTCH1 mutation was infrequent in mature T-cell leukemia/lymphoma, but NOTCH1 may be involved in leukemogenesis associated with a variety of T-cell leukemia/lymphoma rather than only with T-ALL. Figure 1. (A) ATL case No.9, (B) T-NHL case No.38, (C) T-NHL case No.38 Figure 1. (A) ATL case No.9, (B) T-NHL case No.38, (C) T-NHL case No.38

scholarly journals Abnormalities of chromosome 7q and Tac expression in T cell leukemias

Blood ◽  
1986 ◽  
Vol 67 (2) ◽  
pp. 516-521 ◽  
Author(s):  
V Brito-Babapulle ◽  
E Matutes ◽  
L Parreira ◽  
D Catovsky
Keyword(s):  
T Cell ◽  
Leukemia Virus ◽  
Growth Factor Receptor ◽  
Chromosome Abnormalities ◽  
Lymphocytic Leukemia ◽  
Chromosome 7 ◽  
T Cell Leukemia ◽  
Cell Leukemia ◽  
Prolymphocytic Leukemia ◽  
Human T Cell

Abstract Clonal chromosome abnormalities were demonstrated in 13 cases of T cell leukemia with a mature membrane phenotype. The cases comprised two adult T cell lymphoma leukemia (ATLL), five Sezary syndrome (SS), three T prolymphocytic leukemia (T-PLL), and three T chronic lymphocytic leukemia (T-CLL). The presence of clonal chromosome abnormalities in the three cases of T-CLL supports the view that although clinically benign, this disorder probably represents a neoplastic process. Cells from six of 11 patients were tested and found to be reactive with monoclonal antibody (McAb) anti-Tac in the absence of mitogens (two ATLL, two SS, and two T-PLL). Only the two ATLL patients were serologically positive for the human T cell leukemia virus I (HTLV-I), and their cells showed a higher anti-Tac reactivity. Chromosome 7 abnormalities were observed in seven cases (two ATLL, three SS, two T- PLL), and a strong correlation was seen between the presence of a 7q abnormality and the expression of the Tac antigen (T cell growth factor receptor). These findings are discussed in relation to the localization of T cell receptor genes on chromosome 7 and possible mechanisms for the activation of the Tac gene.

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