9 research outputs found
Pre-B-cell acute lymphoblastic leukemia with bulk extramedullary disease and chromosome 22 (EWSR1) rearrangement masquerading as Ewing sarcoma
We report a 2-year-old female with a subcutaneous tumor who was initially misdiagnosed as suffering from Ewing sarcoma with a positive EWSR1 rearrangement and EWS/FLI1 transcript. After finding lymphoblasts in peripheral blood, the diagnosis of acute lymphoblastic leukemia was established. This necessitated further analysis of the subcutaneous tumor. The tissue was positive for immature B-cell markers and an immunoglobulin heavy chain gene rearrangement, which confirmed the final diagnosis of common type acute lymphoblastic leukemia with bulk extramedullary disease. The patient was treated with chemotherapy and was in remission 30 months after the diagnosis
Kompleksna varijantna translokacija Philadelphia kromosoma koja ukljuÄuje kromosome 1, 9, 12 i 22 u sluÄaju kroniÄne mijeloiÄne leukemije (KML)
Aim: Chronic myeloid leukemia (CML) is characterized by the Philadelphia (Ph) chromosome created by the reciprocal translocation t(9;22)(q34;q11), resulting in the hybrid gene breakpoint cluster region - Abelson (BCR-ABL1). Around 5ā10% of CML cases develop complex variant Ph translocations involving one or more chromosomal regions besides 9 and 22. We report in this study a case of acute lymphoblastic leukemia (ALL) developed from CML displaying a novel four-way translocation.
Case report: Complete blood analysis of 46-year-old male patient showed an increase in white blood cells, lower levels of red blood cells and platelets. Bone-marrow sample was subjected to conventional cytogenetic (Giemsa-banding) and fluorescence in situ hybridization methods and four - way translocation was identified. Considering hepatosplenomegaly and breakpoint cluster region that was characterized as major (M-bcr) on quantitative real-time polymerase chain reaction (RQ-PCR), ALL was diagnosed as a transformation from CML.
Conclusion: This study reports new four-way translocation ins(22;1)(q11.2;q31q32)t(1;9;12;22)(q32;q34;q13;q11.2) in an ALL patient developed from the CML and was cross-checked in Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer.Cilj: KroniÄna mijeloiÄna leukemija (KML) karakterizirana je Philadelphia kromosomom (Ph), koji nastane reciproÄnom translokacijom t(9;22)(q34;q11.2), i rezultira fuzijskim genom BCR-ABL1. Kompleksna varijantna translokacija ukljuÄuje jos jedan ili viÅ”e kromosoma uz kromosome 9 i 22, te se javlja u 5-10% svih sluÄajeva KML. U ovoj studiji prijavljujemo novi sluÄaj varijantne akutne limfoblastiÄne leukemije (ALL) koja se transformirala iz KML.
Prikaz sluÄaja: Kompletna krvna slika 46-godiÅ”njeg pacijenta pokazala je poveÄane vrijednosti bijelih krvnih stanica, a snižene vrijednosti crvenih krvih stanica i trombocita. Uzorak koÅ”tane srži (KS) poslan je na klasiÄnu citogenetiÄku (Giemsa-pruganje) i fluorescentu in situ hibridizacijsku (FISH) analizu kojima je potvrÄena nova varijantna translokacija izmeÄu Äetiri kromosoma. Obzirom na hepatosplenomegaliju i podruÄje prijelomne toÄke koja je karakterizirana kao āmajorā (M-bcr) koriÅ”tenjem kvantitativne polimerazne lanÄane reakcije u stvarnom vremenu, dijagnosticirana je ALL u transformaciji iz KML.
ZakljuÄak: Ova studija prijavljuje novu varijantnu translokaciju koja obuhvaÄa 4 kromosoma ins(22;1)(q11.2;q31q32)t(1;9;12;22)(q32;q34;q13;q11.2) kod pacijenta sa ALL transformiranom iz KML, na temelju provjere u bazama podataka āMitelman Database of Chromosome Aberrations and Gene Fusions in Cancerā
Coexistence of trisomy 12 and del(13)(q14.3) in two patients with chronic lymphocytic leukemia
We describe two patients with diagnosis of chronic lymphocytic leukemia (CLL) in whom interphase fluoĀrescence in situ hybridization (FISH) analysis revealed trisomy 12 and del(13)(q14.3) occurring in the same clone. These abnormalities are rarely seen together and the prognostic relevance of their coexistence is still unclear. According to some data, a probable adverse prognosis for this group of patients is suggested. Our patients have been in a stable phase of the disease for more than one year since the given abnormalities were documented in their karyotypes. Further study is necessary to determine the prognostic significance of coexistence of these abnormalities in CLL patients
Prognostic factors in myelodysplastic syndromes: single-center experience
Uvod: MijelodisplastiÄni sindrom (MDS) jedna je od najÄeÅ”Äih klonskih hematoloÅ”kih neoplastiÄnih neoplazma starije dobi karakterizirana jednom ili s viÅ”e citopenija te ograniÄenim terapijskim rjeÅ”enjima. Cilj je
ovog rada bila retrospektivna analiza klasiÄnih prognostiÄkih Äimbenika kod bolesnika dijagnosticiranih u jednom centru. Kao glavni ishod uzeto je ukupno preživljenje (engl. Overall survival ā OS) definirano kao smrt od posljedica same bolesti ili nekoga drugog uzroka. Metode: Retrospektivno smo analizirali povijesti bolesti svih bolesnika dijagnosticiranih u jednom centru u razdoblju od 1. sijeÄnja 2013. do 31. prosinca 2016. godine. Rezultati: U istraživanje je ukljuÄeno ukupno 58 bolesnika s medijanom dobi od 69 godina. Nakon medijana praÄenja od 12 mjeseci medijan OS-a iznosio je 17 mjeseci s procijenjenom trogodiÅ”njom stopom OS-a od 25%. U analizi prognostiÄkih Äimbenika zbrojevi riziÄne stratifikacije prema IPSS-u, R-IPSS-u i WPSS-u bili su statistiÄki znaÄajni te su jasno diskriminirali OS ispitanika s nižim rizikom u odnosu prema OS-u ispitanika s visokom rizikom, no zbog malenog broja bolesnika nije bilo moguÄe odgovoriti na pitanje koji je bodovni sustav najprikladniji u ovoj populaciji. CitogenetiÄke kategorije prema IPSS-u i R-IPSS-u bile su statistiÄki znaÄajni prediktori OS-a. Usprkos statistiÄkoj tendenciji morfoloÅ”ke karakteristike (podtip MDS-a, broj blasta u koÅ”tanoj srži) nisu se pokazale statistiÄki znaÄajnim Äimbenicima prognoze u ovih bolesnika. Od kliniÄkih karakteristika jedino su prisutnost anemije i njezina težina, odnosno transfuzijska ovisnost bile znatno povezane s loÅ”ijim ishodom. ZakljuÄak: Na naÅ”oj kohorti bolesnika veÄina tradicionalnih faktora pokazala se važnom u skladu s literaturnim podacima.Introduction: Myelodysplastic syndrome (MDS) is one of the most common myeloid neoplasms of elderly characterized by cytopenias and limited therapeutic options. The main aim of this retrospective singlecenter study was to examine the value of classical prognostic factors. The main outcome of the study was overall survival (OS) defined as death from MDS or any other reason. Methods: We analyzed the medical records of patients diagnosed with MDS at single centre in the period from beginning of 2013 to the end of 2016. Results:
Total of 58 patients (median age of diagnosis being 69 years) were included in the study. After median of follow-up of 12 months, median OS was 17 months and estimated 3-year OS rate 25%. Classical prognostic systems such as IPSS, WPSS and R-IPSS were statistically significant prognostic factors discriminating adequately between low and high risk groups in terms of outcome. However , due to small sample size, we were not able to distinguish the most appropriate scoring system. The cytogenetics subgroups according to IPPS and R-IPSS were significant predictors of outcomes underlying its crucial role in MDS diagnosis. Despite the statistical tendency morphological features of MDS (2008 World Health Organization subtype and number of blasts in bone marrow) were not significant predictors of OS. Among clinical features, only presence and degree of anemia and transfusion dependency were significant predictors of inferior survival. Conclusion: The majority of traditional prognostic factors were significant in our cohort in concordance with literature review
The value of chromosomal findings in treatment of acute myeloid leukemia
U istraživanje je ukljuÄeno 536 bolesnika s novootkrivenom akutnom mijeloiÄnom leukemijom. Medijan dobi iznosio je 36 godine u rasponu od 16-60 godina. Akutna mijeloiÄna leukemija M2 podtipa dijagnosticirana je u 31% sluÄajeva, dok je AML-M6 dijagnosticirana u 3% sluÄajeva. Akutna promijelocitna leukemija dijagnosticirana je u 76/536 (14%). Akutna mijeloiÄna leukemija M4 podtipa dijagnosticirana je u 75/536 (14%), dok je AML-M5 dijagnosticirana u 62/536 (12%) bolesnika. Eritroleukemija (AML-M6) dijagnosticirana je u 18/536 (3%) bolesnika. Medijan leukocita pri dijagnozi iznosio je 19x109/L, raspona od 0.8-323x109/L. Za analizu kromosoma primjenjene su standardne metode pruganja. Prema nalazu citogenetske analize bolesnici su razdijeljeni u tri prognostiÄke skupine. Bolesnici s translokacijom t(8;21), inverzijom inv(16), translokacijom t(15;17) nalaze se u tzv. povoljnoj skupini. Bolesnici s urednim nalazom bez kromosomskih promjena u kariotipu odnosno bolesnici sa citogenetskim promjenama nepoznate prognoze Äine posebnu skupinu intermedijarne prognoze. Bolesnici u kojih je naÄena trisomija 8, ili promjene kromosoma 5, 7, promjene lokusa 11q23, 3q26 nalaze se u nepovoljnoj skupini. Citogenetske promjene naÄene su u 363 (68%) bolesnika. Povoljan citogenetski nalaz naÄen je u 118 (22%) bolesnika. Intermedijarni tip citogenetske promjene utvrÄen je u 260 (49%) bolesnika, dok je u 158 (30%) bolesnika utvrÄena nepovoljna citogentska promjena. Kompletna remisija postignuta je u 76% bolesnika dobre citogenetske prognoze, u 70% bolesnika intermedijarne citogenetske prognoze, te u samo 45% bolesnika nepovoljne citogenetske prognoze (p=0.001). Vjerojatnost petogodiÅ”njeg preživljenja bez znakova bolesti u bolesnika s povoljnom, intermedijarnom i nepovoljnom citogenetskom promjenom iznosi 43%, 34% i 9% (p=0.05). Vjerojatnost relapsa bolesti iznosi 82% za bolesnike s nepovoljnom citogenetskom promjenom, 68% za bolesnike s intermedijarnom citogenetskom promjenom i 56% za bolesnike s povoljnim citogenetskim nalazom (p=0.05).In our investigation 536 patients with de novo acute leukemia were included into prospective study. Median age was 36 years, ranged 16-60. The majority of patients have AML-M2 (31%) or AML-M6 subtype (3%) according to French-American-British classification. 14% patients have AML-M3 subtype. AML-M4 was observed in 75/536 (14%) and AML-M5 in 62/536 (12%) patients. In 3% patients AML-M6 was documented. Median WBC at diagnosis was 19x109/l, ranged 0.-323x109/l. For chromosome analysis standard banding was done. According to the cytogenetic finding patients were classified in three prognostic groups. Patients with translocations t(8;21) or t(15;17), inversion inv(16) were classified as a good prognostic group, while patients with trisomy 8, patients with chromosome 3, 11q23 abnormalities and patients with changes of chromosome 5 and 7 were classified as a poor prognostic group. Other patients were classified as an intermediate prognostic group. Cytogenetic abnormalities were found in 363 (68%) patients. 22% patients were classified as a good prognostic group and 158 (30%) as a poor prognosis group. Complete remission was obtained in 76% of patients with good karyotype, in 70% patients with intermediate karyotype and only 45% in poor prognostic group (P=0.001). Five year probability of disease free survival for patients with good, intermediate and poor karyotype is 43%, 34% and 9% respectively (P=0.05). Probability of relapse for patients with poor karyotype is 82%, for intermediate karyotype 68% and for patients with good karyotype is 56% (P=0.05)
PrognostiÄka vrijednost citogenetskih promjena u lijeÄenju akutne leukemije [The value of chromosomal findings in treatment of acute myeloid leukemia]
In our investigation 536 patients with de novo acute leukemia were included into prospective study. Median age was 36 years, ranged 16-60. The majority of patients have AML-M2 (31%) or AML-M6 subtype (3%) according to French-American-British classification. 14% patients have AML-M3 subtype. AML-M4 was observed in 75/536 (14%) and AML-M5 in 62/536 (12%) patients. In 3% patients AML-M6 was documented. Median WBC at diagnosis was 19x109/l, ranged 0.-323x109/l. For chromosome analysis standard banding was done. According to the cytogenetic finding patients were classified in three prognostic groups. Patients with translocations t(8;21) or t(15;17), inversion inv(16) were classified as a good prognostic group, while patients with trisomy 8, patients with chromosome 3, 11q23 abnormalities and patients with changes of chromosome 5 and 7 were classified as a poor prognostic group. Other patients were classified as an intermediate prognostic group. Cytogenetic abnormalities were found in 363 (68%) patients. 22% patients were classified as a good prognostic group and 158 (30%) as a poor prognosis group. Complete remission was obtained in 76% of patients with good karyotype, in 70% patients with intermediate karyotype and only 45% in poor prognostic group (P=0.001). Five year probability of disease free survival for patients with good, intermediate and poor karyotype is 43%, 34% and 9% respectively (P=0.05). Probability of relapse for patients with poor karyotype is 82%, for intermediate karyotype 68% and for patients with good karyotype is 56% (P=0.05)
The value of chromosomal findings in treatment of acute myeloid leukemia
U istraživanje je ukljuÄeno 536 bolesnika s novootkrivenom akutnom mijeloiÄnom leukemijom. Medijan dobi iznosio je 36 godine u rasponu od 16-60 godina. Akutna mijeloiÄna leukemija M2 podtipa dijagnosticirana je u 31% sluÄajeva, dok je AML-M6 dijagnosticirana u 3% sluÄajeva. Akutna promijelocitna leukemija dijagnosticirana je u 76/536 (14%). Akutna mijeloiÄna leukemija M4 podtipa dijagnosticirana je u 75/536 (14%), dok je AML-M5 dijagnosticirana u 62/536 (12%) bolesnika. Eritroleukemija (AML-M6) dijagnosticirana je u 18/536 (3%) bolesnika. Medijan leukocita pri dijagnozi iznosio je 19x109/L, raspona od 0.8-323x109/L. Za analizu kromosoma primjenjene su standardne metode pruganja. Prema nalazu citogenetske analize bolesnici su razdijeljeni u tri prognostiÄke skupine. Bolesnici s translokacijom t(8;21), inverzijom inv(16), translokacijom t(15;17) nalaze se u tzv. povoljnoj skupini. Bolesnici s urednim nalazom bez kromosomskih promjena u kariotipu odnosno bolesnici sa citogenetskim promjenama nepoznate prognoze Äine posebnu skupinu intermedijarne prognoze. Bolesnici u kojih je naÄena trisomija 8, ili promjene kromosoma 5, 7, promjene lokusa 11q23, 3q26 nalaze se u nepovoljnoj skupini. Citogenetske promjene naÄene su u 363 (68%) bolesnika. Povoljan citogenetski nalaz naÄen je u 118 (22%) bolesnika. Intermedijarni tip citogenetske promjene utvrÄen je u 260 (49%) bolesnika, dok je u 158 (30%) bolesnika utvrÄena nepovoljna citogentska promjena. Kompletna remisija postignuta je u 76% bolesnika dobre citogenetske prognoze, u 70% bolesnika intermedijarne citogenetske prognoze, te u samo 45% bolesnika nepovoljne citogenetske prognoze (p=0.001). Vjerojatnost petogodiÅ”njeg preživljenja bez znakova bolesti u bolesnika s povoljnom, intermedijarnom i nepovoljnom citogenetskom promjenom iznosi 43%, 34% i 9% (p=0.05). Vjerojatnost relapsa bolesti iznosi 82% za bolesnike s nepovoljnom citogenetskom promjenom, 68% za bolesnike s intermedijarnom citogenetskom promjenom i 56% za bolesnike s povoljnim citogenetskim nalazom (p=0.05).In our investigation 536 patients with de novo acute leukemia were included into prospective study. Median age was 36 years, ranged 16-60. The majority of patients have AML-M2 (31%) or AML-M6 subtype (3%) according to French-American-British classification. 14% patients have AML-M3 subtype. AML-M4 was observed in 75/536 (14%) and AML-M5 in 62/536 (12%) patients. In 3% patients AML-M6 was documented. Median WBC at diagnosis was 19x109/l, ranged 0.-323x109/l. For chromosome analysis standard banding was done. According to the cytogenetic finding patients were classified in three prognostic groups. Patients with translocations t(8;21) or t(15;17), inversion inv(16) were classified as a good prognostic group, while patients with trisomy 8, patients with chromosome 3, 11q23 abnormalities and patients with changes of chromosome 5 and 7 were classified as a poor prognostic group. Other patients were classified as an intermediate prognostic group. Cytogenetic abnormalities were found in 363 (68%) patients. 22% patients were classified as a good prognostic group and 158 (30%) as a poor prognosis group. Complete remission was obtained in 76% of patients with good karyotype, in 70% patients with intermediate karyotype and only 45% in poor prognostic group (P=0.001). Five year probability of disease free survival for patients with good, intermediate and poor karyotype is 43%, 34% and 9% respectively (P=0.05). Probability of relapse for patients with poor karyotype is 82%, for intermediate karyotype 68% and for patients with good karyotype is 56% (P=0.05)
The value of chromosomal findings in treatment of acute myeloid leukemia
U istraživanje je ukljuÄeno 536 bolesnika s novootkrivenom akutnom mijeloiÄnom leukemijom. Medijan dobi iznosio je 36 godine u rasponu od 16-60 godina. Akutna mijeloiÄna leukemija M2 podtipa dijagnosticirana je u 31% sluÄajeva, dok je AML-M6 dijagnosticirana u 3% sluÄajeva. Akutna promijelocitna leukemija dijagnosticirana je u 76/536 (14%). Akutna mijeloiÄna leukemija M4 podtipa dijagnosticirana je u 75/536 (14%), dok je AML-M5 dijagnosticirana u 62/536 (12%) bolesnika. Eritroleukemija (AML-M6) dijagnosticirana je u 18/536 (3%) bolesnika. Medijan leukocita pri dijagnozi iznosio je 19x109/L, raspona od 0.8-323x109/L. Za analizu kromosoma primjenjene su standardne metode pruganja. Prema nalazu citogenetske analize bolesnici su razdijeljeni u tri prognostiÄke skupine. Bolesnici s translokacijom t(8;21), inverzijom inv(16), translokacijom t(15;17) nalaze se u tzv. povoljnoj skupini. Bolesnici s urednim nalazom bez kromosomskih promjena u kariotipu odnosno bolesnici sa citogenetskim promjenama nepoznate prognoze Äine posebnu skupinu intermedijarne prognoze. Bolesnici u kojih je naÄena trisomija 8, ili promjene kromosoma 5, 7, promjene lokusa 11q23, 3q26 nalaze se u nepovoljnoj skupini. Citogenetske promjene naÄene su u 363 (68%) bolesnika. Povoljan citogenetski nalaz naÄen je u 118 (22%) bolesnika. Intermedijarni tip citogenetske promjene utvrÄen je u 260 (49%) bolesnika, dok je u 158 (30%) bolesnika utvrÄena nepovoljna citogentska promjena. Kompletna remisija postignuta je u 76% bolesnika dobre citogenetske prognoze, u 70% bolesnika intermedijarne citogenetske prognoze, te u samo 45% bolesnika nepovoljne citogenetske prognoze (p=0.001). Vjerojatnost petogodiÅ”njeg preživljenja bez znakova bolesti u bolesnika s povoljnom, intermedijarnom i nepovoljnom citogenetskom promjenom iznosi 43%, 34% i 9% (p=0.05). Vjerojatnost relapsa bolesti iznosi 82% za bolesnike s nepovoljnom citogenetskom promjenom, 68% za bolesnike s intermedijarnom citogenetskom promjenom i 56% za bolesnike s povoljnim citogenetskim nalazom (p=0.05).In our investigation 536 patients with de novo acute leukemia were included into prospective study. Median age was 36 years, ranged 16-60. The majority of patients have AML-M2 (31%) or AML-M6 subtype (3%) according to French-American-British classification. 14% patients have AML-M3 subtype. AML-M4 was observed in 75/536 (14%) and AML-M5 in 62/536 (12%) patients. In 3% patients AML-M6 was documented. Median WBC at diagnosis was 19x109/l, ranged 0.-323x109/l. For chromosome analysis standard banding was done. According to the cytogenetic finding patients were classified in three prognostic groups. Patients with translocations t(8;21) or t(15;17), inversion inv(16) were classified as a good prognostic group, while patients with trisomy 8, patients with chromosome 3, 11q23 abnormalities and patients with changes of chromosome 5 and 7 were classified as a poor prognostic group. Other patients were classified as an intermediate prognostic group. Cytogenetic abnormalities were found in 363 (68%) patients. 22% patients were classified as a good prognostic group and 158 (30%) as a poor prognosis group. Complete remission was obtained in 76% of patients with good karyotype, in 70% patients with intermediate karyotype and only 45% in poor prognostic group (P=0.001). Five year probability of disease free survival for patients with good, intermediate and poor karyotype is 43%, 34% and 9% respectively (P=0.05). Probability of relapse for patients with poor karyotype is 82%, for intermediate karyotype 68% and for patients with good karyotype is 56% (P=0.05)
COEXISTENCE OF TRISOMY 12 AND DEL(13)(Q14.3) IN TWO PATIENTS WITH CHRONIC LYMPHOCYTIC LEUKEMIA
Abstract ā We describe two patients with diagnosis of chronic lymphocytic leukemia (CLL) in whom interphase fluorescence in situ hybridization (FISH) analysis revealed trisomy 12 and del(13)(q14.3) occurring in the same clone. These abnormalities are rarely seen together and the prognostic relevance of their coexistence is still unclear. According to some data, a probable adverse prognosis for this group of patients is suggested. Our patients have been in a stable phase of the disease for more than one year since the given abnormalities were documented in their karyotypes. Further study is necessary to determine the prognostic significance of coexistence of these abnormalities in CLL patients