Author/Editor		Frković-Grazio, Snježana; Bračko, Matej; Dobnik, Sonja; Grat, Mateja
Title		Sindrom 5q-
Translated title		5q-syndrome
Type		članek
Source		Med Razgl
Vol. and No.		Letnik 39, št. Suppl 5
Publication year		2000
Volume		str. 161-3
Language		slo
Abstract		5q-syndrome is a rare form of myelodysplastic syndrome (MDS) characterized by deletion in the region of the long arm of chromosome 5. Clinically, it presents as mild or moderate anemia accompanied by elevated or normal platelet count and normal or slightly elevated leukocyte count. Clinical and laboratory findings are nonspecific and may mimic those in myeloproliferative disorder, especially essential thrombocytemia. Bone marrow changes are often inconspicuous and may be more easily found in bone marrow biopsy specimens. Cytogenetic confirmation is required for definite diagnosis. Since 5q-syndrome has favorable prognosis, its delineation from other forms of MDS is clinically important. We report a 69-year-old female patient who had been treated for hypertension and throm- bembolisms and in whom a mild anemia and thrombocytosis were found in 1995. A myelo- proliferative disorder was suspected and bone marrow aspiration was performed which was unremarkable. Bone marrow biopsy showed morphologic changes suggestive of 5q-syndrome and cytogenetic examination was recommended. It revealed a 46, XX, del (5)(q13q33) karyotype and confirmed the diagnosis. During the 4-year follow-up there were no major changes in laboratory findings: a mild macrocytic anemia with variable elevation of platelet count and normal leukocyte count persisted. The patient was treated with packed red blood cell transfusions.
Summary		Sindrom 5q- je redka oblika mielodisplastičnega sindroma (MDS), za katero je značilna delecija v področju dolgega kraka kromosoma 5. Klinično se bolezen kaže z blago do zmerno anemijo ob istočasno povečanem ali normalnem številu trombocitov in normalnem ali blago povečanem številu levkocitov. Klinična slika in laboratorijski izvidi so pri sindromu 5q- neznačilni in lahko posnemajo mieloproliferativno bolezen, zlasti esencialno trombocitemijo. Tudi spremembe v kostnem mozgu so pogosto le diskretne in jih pogosto spoznamo le v histološkem vzorcu. Za dokončno potrditev diagnoze je potrebna citogenetska preiskava. Ker je sindrom 5q- ugodna oblika MDS, je njena pravilna opredelitev klinično pomembna. V članku je prikazan primer 69-letne bolnice, ki se je zdravila zaradi arterijske hipertenzije in tromboembolizmov. Leta 1995 so ugotovili blago anemijo in trombocitozo. Zaradi suma na mieloproliferativno bolezen je bila narejena citološka punkcija kostnega mozga, ki je bila brez posebnih patoloških sprememb. S histološkim pregledom kostnega mozga pa smo ugotovili morfološke spremembe, značilne za sindrom 5q-. Zato smo opravili citogenetsko prei- skavo in ugotovili kariotip 46, XX, del (5) (q13q33), kar je dokončno potrdilo histološko diagnozo. Krvna slika se v naslednjih 4 letih ni spreminjala: persistirala je zmerna makrocitna anemi- ja z različno visoko trombocitozo ob normalnem številu levkocitov. Bolnica je bila zdravlje- na s transfuzijami koncentriranih eritrocitov.
Descriptors		MYELODYSPLASTIC SYNDROMES CHROMOSOMES, HUMAN, PAIR 5 CHROMOSOME DELETION AGED