The detection of specific chromosomal abnormalities is important in the diagnostic workup of aggressive lymphomas, giving its impact on the treatment strategies and prognosis. This has been ...accomplished by using the fluorescent in situ hybridisation method (FISH) performed on fine needle aspiration (FNA) specimens what is attractive in the diagnosis of lymphoma in the comparation with other methods for collecting samples. The cytogenetic analyses were performed in series of 80 patients with lymphoma (43 women and 37 men, median age 48, range 3-90 years). In our series 89.0% (71) of the specimens yield sufficient numbers of analysable metaphases, comprising 63 non-Hodgkin lymphomas (NHL) and 8 examples of Hodgkin disease (HD). Among 71 successful karyotyped specimens 58 (82.0%) showed clonal karyotypic abnormalities. Numerical changes in 4, structural changes in 20 and both and numerical with structural changes in 30 of 54 NHL cases. Trisomies 3, 7, 8, 12, 18, X and monosomies 1 were most common numerical abnormalities. The NHL cases were typically characterised by structural rather than numerical aberrations with chromosome arms 1p/q, 3p/q, 6q, 11q, 17p and 14q most frequently involved. The expected translocation (14;18) (q32;q21) in 8 and t(8;14) (q24;q34) in 6 cases, both translocations at the same time in three cases, complex rearrangement with chromosome 8, 14, and 18, namely t(8;14;18) (q24;q32;q21) in one case, t(11;14) (q13;q32) in three and one case with translocation 14q32 with chromosome 3q27, 6q and 14q32 were found. In 28 of 54 (52%) NHL cases t(14;v) was present. Four abnormal clones detected in Hodgkin disease were typically consisted of a small percentage of metaphases. The use of FISH method enable the detection of loss or gain of genetic material and reveal rearrangements unsuspected by conventional cytogenetics in 34 (48.0%) cases.
Cytogenetics of multiple myeloma Trcić, Ruzica Lasan; Skelin, Ika Kardum; Sustercić, Dunja ...
Collegium antropologicum
34, Issue:
1
Journal Article
Peer reviewed
Great studies of multiple myeloma (MM) strongly suggested that specific chromosomal changes are of prognostic significance in patients with MM1. We have performed cytogenetic analysis and recently ...fluorescent in situ hybridization (FISH) on 43 cases of MM. Clonal chromosomal changes were present in 24 (56%) cases. Hyperdiploid karyotype was found in 12 (50%) cases, hypodiploid in 8 (33%) cases, and 4 (17%) cases had a pseudodiploid karyotype. The most common numerical abnormalities were gains of whole chromosomes 15, 11, 3 and 6. Whole chromosome losses were also frequent involving chromosomes X, 13, 14, and 8. Most cases showed also structural rearrangements 71% (n = 17): del(1p), dup(1q), del(5q), del(13q), del(17p) and t(11;14)(q13;q32) (n = 4, 17%). Chromosome -13/13q deletion was found in 42% (n = 10) cases; complete loss of 13 was observed in 67% (n = 7) cases, whereas 33% (n = 3) had interstitial deletions. In the majority of the cases there was a mixture of abnormal and normal metaphases.
Pallister Killian syndrome (PKS) is a rare genetic disorder caused by tetrasomy of the short arm of chromosome 12, revealed usually in mosaic distribution of an extra i (12) (p10) chromosome in ...fibroblasts. The syndrome presents with a recognizable pattern of findings including pigmentary skin changes, coarse face, high forehead, sparse anterior scalp hair, hypertelorism, seizures and progressive psychomotor developmental delay. It was first described independently by Pallister in 1977 and by Killian and Teschler-Nikola in 1981. We report a case of 21 month old girl with PKS and significant overgrowth. Cytogenetic analysis was performed using the GTG banding technique. The karyotype of cultured lymphocytes was normal. The karyotype from skin fibroblasts was established as mosaic tetrasomy of 12p 47,XX,+i (12) (p10)/46,XX. The origin of the extra marker chromosome was determinated by fluorescence in situ hybridization with chromosome 12 specific DNA probes confirming that supernumerary marker is chromosome i (12p) in 68% of cells. Despite the excessive postnatal growth we found low serum growth hormone levels and reduced response to pharmacological stimulation test. This is also the first report of a postnatal patient in our country.
Fanconijeva anemija (FA) rijetka je nasljedna bolest karakterizirana kongenitalnim anomalijama, progresivnim poremećajem funkcije koštane srži i predispozicijom za razvoj hematoloških i ...nehematoloških malignih boles-ti. Poremećaj funkcije koštane srži inicijalno se očituje trombocitopenijom, makrocitozom eritrocita, a zatim granulocitopenijom i anemijom. Alogena transplantacija krvotvornih matičnih stanica (TKMS) jedina je tera-pijska opcija koja pruža konačno izlječenje hematoloških poremećaja u oboljelih od FA. Prikazujemo dječaka s Fanconijevom anemijom, koja se klinički prezentirala pancitopenijom u dobi od 5 godina. Kod dječaka je prvi put u našoj domovini učinjen alogeni TKMS u djeteta oboljelog od FA. Radilo se o nesrodnom davatelju košta-ne srži, a kao režim kondicioniranja primijenjen je protokol GEFA03, koji uključuje fludarabin, busulfan i ciklofosfamid uz prevenciju reakcije presatka protiv primatelja alemtuzumabom, ciklosporinom i mikofenolat mofetilom.
Cilj: Ispitati kliničke i biološke (citomorfologija, imunofenotipizacija, citogenetika) značajke te stopu preživljenja pedijatrijskih bolesnika s akutnom mijeloičnom leukemijom (AML) liječenih u ...tercijarnom centru.
Ispitanici i Metode: Epidemiološko, retrospektivno, deskriptivno istraživanje u koje su uključeni bolesnici s novodijagnosticiranom AML mlađi od 18 godina, u razdoblju od 01.01.2002. do 31.12.2013. godine.
Rezultati: U dvanaestogodišnjem razdoblju je hospitalizirano devetero djece s AML, 5 (55,6%) djevojčica i 4 (44,4%) dječaka. Prosječna dob je bila 11 (± 3,8 SD) godina. Najčešći simptomi i znaci su bili astenija (66,7%), perzistentna vrućica (55,6%), bljedoća (44,4%) i krvarenje (44,4%). Limfadenopatija i hepatomegalija su bile prisutne u 3 (33,3%), a splenomegalija u jednog (11,1%) bolesnika. Jedan (11,1%) bolesnik je imao inicijalno zahvaćen centralni nervni sustav. Trombocitopenija je bila prisutna u 8 (88,9%) bolesnika, anemija u 7 (77,8%) bolesnika, leukocitoza u 4 (44,5%) bolesnika, a leukopenija u 3 (33,3%) bolesnika. Svi bolesnici su imali blaste u razmazu periferne krvi. Utvrđeno je 7 citomorfoloških podtipova s karakterističnim imunofenotipskim značajkama. Sedam (77,8%) bolesnika je imalo numeričke i strukturne aberacije kromosoma. Tri (33,3%) bolesnika su svrstana u grupu standardnog rizika, a 6 (66,7%) u grupu visokog rizika. Remisija je postignuta petnaestog dana kemoterapije u 6 (66,7 %) bolesnika. Alogena transplantacija krvotvornih matičnih stanica je učinjena u 3 (33,3%) bolesnika. Osam (88,9%) bolesnika je u kompletnoj remisiji s medijanom praćenja od 10,1 godina. Smrtni ishod je nastupio u 1 (11,1%) bolesnika uslijed septičkog šoka.
Zaključci: Pedijatrijska AML je heterogena hematološka neoplazma. Agresivna kemoterapija i transplantacija krvotvornih matičnih stanica omogućuju visoku stopu izlječenja.
Conventional cytogenetics detected an interstitial deletion of proximal region of p-arm of chromosome 2 in a 6-month-old boy with a phenotype slightly resembling Down's syndrome. The deletion was ...inherited from the father, whose karyotype revealed a small ring-shaped marker chromosome, in addition to interstitial deletion. Fluorescence in situ hybridization identified the marker, which consisted of the proximal region of the p-arm of chromosome 2, including a part of its centromere. This case shows that molecular cytogenetic analysis can reveal the mechanism of the formation of the marker chromosome.
Myelodysplastic syndrome Working Group of the Croatian Cooperative Group for Hematologic Diseases (CROHEM), Referral center of the Ministry of Health of the Republic of Croatia for diagnostics and ...treatment of MDS, as well as the Croatian Society for Haematology of the Croatian Medical Association have made Croatian guidelines for diagnosis and treatment of myelodysplastic syndrome (MDS). MDS is a heterogeneous group of clonal hematopoietic stem cell disorders characterized by ineffective hematopoiesis, dysplasia, cytopenia and risk of transformation to acute myeloid leukemia (AML). Diagnosis is based on morphological characteristics of hematopoietic cells supplemented with the cytogenetic analysis and bone marrow flow cytometry. Due to great differences in the natural course of the disease, i.e. time
to progression to AML and the expected time of survival several scoring systems have been developed to determine the disease risk. The treatment of patients with MDS is based on the risk factors of the disease as well as the individual risk of treatment.
We report a case of familial small supernumerary marker chromosome 15 in a phenotypically normal female with 4 recurrent spontaneous abortions and a healthy child. The initial karyotype showed a ...small, bisatellited, apparently metacentric marker chromosome, 47,XX,+idic(15)(q11.1), maternally inherited. The proband's mother was mosaic for the idic(15)(q11.1) without pregnancy loss. Reexamination of the proband's karyotype revealed cryptic mosaicism for 1 ring and 1 minute chromosome derived de novo from chromosome 9 in 2% of the metaphases. In FISH analysis, the patient's karyotype was mos 47,XX,+idic(15)(q11.1)mat100/49,XX,+idic(15)(q11.1)mat,+r(9;9;9;9),+der(9)dn2. The second spontaneous abortion had trisomy 9 (47,XX,+9); the third had mosaic trisomy 9 in 21% of the nuclei and isodicentric chromosome 15 in 36% of the nuclei (mos 48,XN,+9,+idic(15)(q11.1)/47,XN,+9/47,XN,+idic(15)(q11.1)/46,XN). The first and fourth abortions were not cytogenetically studied. The cause of the spontaneous abortions in this patient is likely the cryptic mosaicism for ring and minute chromosomes 9, and gonadal mosaicism is most probable, due to the 2 abortions.
Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare type of T-cell lymphoma of CD3+CD8+ phenotype characterized by deep-seated skin nodules or plaques mimicking panniculitis, a result of ...neoplastic lymphocytes infiltrating the subcutaneous fatty tissue. We present a case of a 19-month year old boy with SPTCL diagnosed and successfully treated in our institution. Disease first presented with symptoms of high fever and painful erythematous nodule located below the umbilicus. Later on the infiltrates appeared on the face, legs, arms and the back of the body. As the most decisive in obtaining the diagnosis, skin biopsy showed atypical, small to medium-sized lymphatic cells infiltrating the deeper dermal layers as well as the subcutaneous adipous tissue surrounding the adipocytes. Immunohystochemical analysis showed neoplastic lymphocytes positive for CD2, CD3, CD5, CD7, CD8, Tia-1, granzyme B and perforine, and negative for CD20, CD34, TDT and CD56. No infiltration of blood vessels or epidermis was evident. Specific T-cell lymphomas protocol (EURO-LB 02) was then initiated which resulted with rapid regression of all general and local symptoms. The treatment was completed according to schedule and the child is now, 24 months after the initiation of the treatment, in complete remission.
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