ABSTRACT
Objective:To improve the understanding of chronic lymphoblastic leukemia (CLL) with t(14;18)(q32;q21).Methods:The clinical data of 3 cases diagnosed as CLL with t(14;18)(q32;q21) in the Tianjin KingMed Medical Laboratory from January 2020 to January 2021 were retrospectively analyzed. The clinicopathological data, morphological examination, immunophenotype, cytogenetics and somatic mutation of immunoglobulin heavy chain variable region genes of patients were comprehensively analyzed, and the literature was reviewed.Results:All the 3 patients showed lymphatic proliferative diseases, and their morphological characteristics and immunophenotype were typical characteristics of CLL.Conclusions:The diagnosis of CLL is mainly based on the typical morphology and immunophenotype of tumor cells. The presence of t(14;18) should not be used to exclude the diagnosis of CLL.
ABSTRACT
Chronic lymphocytic leukemia (CLL) is the most common chronic lympho‑proliferative disorder. This study done to detect the level of cluster of differentiation (CD)49d in CLL patients by flow cytometry and itscorrelation with the prognosis (survival) and with (trisomy12) detected by fluorescent in situ hybridization (FISH).Methods:Clinico-hematological profiles done to fourty CLL patients. CD49d tested by flow cytometry and trisomy12 was detected by FISH.Results:CLL patients classified according to modified Rai staging system into: low risk 12.5%, intermediate risk 22.5% and high risk 65%. CD49d and trisomy12 positivitywere detected in 29Original Research Article patients (72.5%) and 22 patients (55%), respectively. There was a significant positive correlation between the percentage of trisomy12 and of CD49d cells in CLL patients (P =0.034). And also, between CD49d and CD38 (P =0.034). On the other hand, there was no significant relation between both CD49d and trisomy12 expression and modified Rai staging system.As regard to overall survival (O.S) and disease free survival (DFS), both CD49d, trisomy12 positive cases were associated with shorter disease free, and overall survivals compared to the negative cases.Regarding to the relation between the use of combination of fludarabine, cyclophosphamide, and rituximab (FCR) as a standard treatment in CLL and OS and DFS of patients in our study, we found that FCR account for the better outcome associated with its use.Conclusion:CLL B-cell membrane expression of CD49d as measured by flow cytometry is a powerful prognostic parameter in patients with CLL. Its positive correlation with the trisomy12 and CD38 and the association of both CD49d and trisomy12 with short survival times indicate that they may have roles in the prognosis of CLL
ABSTRACT
Objective To explore the clinical features, cytogenetic and molecular genetics characteristics of trisomy 12 p in neonates. Method The clinical data were reviewed in a neonate with trisomy 12 p confirmed by routine G-banding chromosome karyotype analysis, high throughput sequencing chromosome copy number variation analysis (CNV) and lymphocyte interphase fluorescence in situ hybridization (FISH) . Results The chromosome karyotype in peripheral blood of the neonate was 47, XX, +mar, and the karyotypes of her parents were normal. CNV detected a regional duplication of 12 p13.33-p11.1 (160001-34860000) with a fragment size of 34.7 Mb. Peripheral blood lymphocyte interphase FISH showed that there were 3 signals in the short arm of chromosome 12 in all interphase nuclei of the neonate, and no chimera existed. It was finally confirmed to be trisomy 12 p. Conclusion The combination of clinical features, peripheral blood karyotype analysis, CNV and FISH techniques can effectively confirm the diaganosis of trisomy 12 p.
ABSTRACT
Objective: To summarize and investigate the characteristics, prognosis and treatments of chronic lymphocytic leukemia (CLL) patients with trisomy 12 by using FISH (CEP12). Methods: Clinical data of 330 CLL patients were analyzed retrospectively by using FISH (CEP12) to detect trisomy 12 from May 2003 to April 2015. The clinical data and laboratory characteristics of CEP12 positive patients (70 cases) were compared with those CEP12 negative patients (260 cases). Results: Compared with CEP12 negative CLL patients, the proportion of hepatomegaly (13.6% vs 4.0%, P=0.011) and LDH>247 U/L (43.3% vs 18.5%, χ(2)=15.892, P<0.001) in CEP12 positive CLL patients were much higher, respectively. There were no significant differences between age, sex, clinical stage, β(2)-microglobulin level, IGHV mutation ratio and splenomegaly/lymphadenopathy in these two subgroups. However, compared with CEP12 negative patients, CEP12 positive patients had higher ratio of FMC7 (23.8% vs 12.7%, χ(2)=4.730, P=0.030), and lower ratio of CD23 (95.2% vs 99.6%, P=0.033). The overall response rates (ORR) in Fludarabine (without Rituximab), Rituximab (with or without Fludarabine) and the traditional chemotherapy group (chlorambucil, CHOP or CHOP-like) were 77.5% (31/40), 84.8% (56/66) and 45.4% (50/110), respectively. The ORR of the traditional chemotherapy group was lower than that of the Fludarabine group and Rituximab group. For CEP12 positive patients, the ORR was inferior to CEP12 negative patients when only using Fludarabine (P<0.05). However, when using Rituximab, the difference could be eliminated, and the ORR was even a little higher in CEP12 negative patients (91.7% vs 81.0%, P=0.306). Compared with CEP12 negative patients, there were no significant differences in progression-free survival (PFS) (χ(2)=0.410, P=0.478) and overall survival (OS) (χ(2)=0.052, P=0.180) for CEP12 positive patients whom the median time from diagnosis to start treatment and OS time was 22.6 (95%CI 15.4-31.7) and 118.5 (95%CI 74.5-162.4) month while the 5-year PFS and OS were (52.9±7.6)% and (74.8±6.6)%. Conclusions: CEP12 positive CLL patients are more common in hepatomegaly and higher level of LDH. The traditional chemotherapy treatment had the lowest efficacy, and the curative effect of single use of fludarabine is not as good as that of CEP12 negative patients, however, when using Ritaximab, the efficacy could be comparable.
Subject(s)
Humans , Antibodies, Monoclonal, Murine-Derived , Antineoplastic Combined Chemotherapy Protocols , Leukemia, Lymphocytic, Chronic, B-Cell , Retrospective Studies , Rituximab , Trisomy , VidarabineABSTRACT
Objective@#To summarize and investigate the characteristics, prognosis and treatments of chronic lymphocytic leukemia (CLL) patients with trisomy 12 by using FISH (CEP12).@*Methods@#Clinical data of 330 CLL patients were analyzed retrospectively by using FISH (CEP12) to detect trisomy 12 from May 2003 to April 2015. The clinical data and laboratory characteristics of CEP12 positive patients (70 cases) were compared with those CEP12 negative patients (260 cases).@*Results@#Compared with CEP12 negative CLL patients, the proportion of hepatomegaly (13.6% vs 4.0%, P=0.011) and LDH>247 U/L (43.3% vs 18.5%, χ2=15.892, P<0.001) in CEP12 positive CLL patients were much higher, respectively. There were no significant differences between age, sex, clinical stage, β2-microglobulin level, IGHV mutation ratio and splenomegaly/lymphadenopathy in these two subgroups. However, compared with CEP12 negative patients, CEP12 positive patients had higher ratio of FMC7 (23.8% vs 12.7%, χ2=4.730, P=0.030), and lower ratio of CD23 (95.2% vs 99.6%, P=0.033). The overall response rates (ORR) in Fludarabine (without Rituximab), Rituximab (with or without Fludarabine) and the traditional chemotherapy group (chlorambucil, CHOP or CHOP-like) were 77.5% (31/40), 84.8% (56/66) and 45.4% (50/110), respectively. The ORR of the traditional chemotherapy group was lower than that of the Fludarabine group and Rituximab group. For CEP12 positive patients, the ORR was inferior to CEP12 negative patients when only using Fludarabine (P<0.05). However, when using Rituximab, the difference could be eliminated, and the ORR was even a little higher in CEP12 negative patients (91.7% vs 81.0%, P=0.306). Compared with CEP12 negative patients, there were no significant differences in progression-free survival (PFS) (χ2=0.410, P=0.478) and overall survival (OS) (χ2=0.052, P=0.180) for CEP12 positive patients whom the median time from diagnosis to start treatment and OS time was 22.6 (95%CI 15.4-31.7) and 118.5 (95%CI 74.5-162.4) month while the 5-year PFS and OS were (52.9±7.6)% and (74.8±6.6)%.@*Conclusions@#CEP12 positive CLL patients are more common in hepatomegaly and higher level of LDH. The traditional chemotherapy treatment had the lowest efficacy, and the curative effect of single use of fludarabine is not as good as that of CEP12 negative patients, however, when using Ritaximab, the efficacy could be comparable.
ABSTRACT
Lymphocytic hypophysitis (LH) is an uncommon inflammatory disease of the hypophysis. It's female to male ratio of appearance is 9:1. Pregnant women are more affected during the third trimester of pregnancy or postpartum. Clinical and radiological presentation can simulate a hypophyseal adenoma. We report a nonpregnant 13 years old adolescent, with a trisomy 12p, with panhypopituitarism, diabetes insipidus and a selar tumor. It was necessary to differentiate between a germinoma and a LH. The latter was confirmed with the hypophyseal biopsy.
Subject(s)
Humans , Female , Pregnancy , Adolescent , Diabetes Insipidus/etiology , Pituitary Diseases/surgery , Pituitary Diseases/complications , Hypopituitarism/etiology , Trisomy , Diabetes Insipidus/surgery , Pituitary Diseases/diagnosis , Hypopituitarism/surgery , Inflammation , Lymphocytes/pathologyABSTRACT
Trisomy 12p is an extremely rare disorder, in fact approximately 30 cases have been reported around the world. This disorder results from a malsegregation or non-disjunction of a balanced translocation of t(12;18), thus the offspring inherit such a gene. In this report, the father's chromosomal arrangement was 46, XY, t(12;18)(p12.1;p11.31) and the mother had a normal chromosomal arrangement. We identified a neonate with a short- neck, round face, prominent forehead, long philtrum, low-set ears, imperforated anus and congenital megacolon. We then carried out a chromosomal study and diagnosed the trisomy 12p. If one or both parents are known carriers, it is strongly suggested to perform amniocentesis or chorionic villus sampling for every pregnancy and it is also recommended that potential parents receive genetic counseling before any pregnancy.