Klinefelter syndrome and acute basophilic leukaemia--case report

Ljubić, Nives and Lang, Nada and Kardum Skelin, Ika and Lasan, Ružica and Dominis, Mara and Perković, Leila and Županić-Krmek, Dubravka and Grgurević-Batinica, Anita (2010) Klinefelter syndrome and acute basophilic leukaemia--case report. Collegium Antropologicum, 34 (2). pp. 657-60. ISSN 0350-6134

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Abstract

Patients with 47, XXY karyotype (Klinefelter syndrome) appear to have increased risk of developing cancer, especially male breast cancer, germ cell tumours and non Hodgkin lymphomas, but rarely acute myeloid leukaemia. We report a patient with acute basophilic leukaemia with 47, XXY karyotype in both the tumour and constitutional cells. Acute basophilic leukaemia is very rare disease comprising less than 1% of all acute myeloid leukaemias. Morphological characteristic of leukaemic blast cells is moderately basophilic cytoplasm containing a variable number of coarse basophilic granules. The most characteristic cytochemical reaction is metachromatic positivity with toluidine blue. Blast are myeloperoxidase negative. Also leukemic blasts express myeloid and monocyte markers. There is no consistent chromosomal abnormality identified in this leukaemia. This is the first reported case of acute basophilic leukaemia in patient with Klinefelter syndrome. In this article the medical history of the patient is given and the possible connection between Klinefelter syndrome and acute myeloid leukaemia is discussed.

Abstract in Croatian

PRIKAZ SLUČAJA KLINEFELTEROVA SINDROMA I AKTUNE BAZOFILNE LEUKEMIJE ----- Bolesnici s 47, XXY kariotipom (Klinefelterovim sindromom) pokazuju veći rizik razvoja karcinoma dojke, karcinoma zametnih stanica i non-Hodgkin limfoma, ali rijetko dolazi do razvoja akutne mijeloične leukemije. Prikazali smo bolesnika s akutnom bazofilnom leukemijom, s ranije dijagnosticiranim Klinefelterovim sindromom, kod kojeg se i u tumorskim stanicama nalazi 47, XXY kariotip. Akutna bazofilna leukemija je veoma rijetka bolest, koja sačinjava manje od 1% svih akutnih mijeloičnih leukemija. Kod nje se u koštanoj srži nalaze nezrele bazofilne stanice, gdje se u citoplazmi nalaze bazofilne granule. Blasti su izrazito pozitivni na toluidin dok su mijeloperoksidaza negativni. PAS reakcija i klor-acetat-esteraza u bazofilnim blastima su često pozitivni. Imunološki blasti nose mijeloidne i monocitne biljege. Kod ovog oblika leukemije nije dokazana povezanost sa specifičnim kromosomskim poremećajima. Ovo je prvi prikazani slučaj akutne bazofilne leukemije kod bolesnika s Klinefelterovim sindromom. U ovom radu smo iznijeli medicinsku povijest bolesti bolesnika, a također smo razmotrili moguću vezu Klinefelterovog sindroma i akutne mijeloične leukemije.

Item Type: Article
MeSH: Blast Crisis ; Bone Marrow Cells/pathology ; Chromosome Aberrations ; Chromosome Mapping ; Fatal Outcome ; Humans ; Karyotyping ; Klinefelter Syndrome/complications ; Klinefelter Syndrome/genetics ; Klinefelter Syndrome/pathology ; Leukemia, Basophilic, Acute/complications ; Leukemia, Basophilic, Acute/genetics ; Leukemia, Basophilic, Acute/pathology ; Male ; Middle Aged ; Multiple Organ Failure/pathology
Departments: Katedra za internu medicinu
Katedra za patologiju
Depositing User: Marijan Šember
Status: Published
Creators:
CreatorsEmail
Ljubić, NivesUNSPECIFIED
Lang, NadaUNSPECIFIED
Kardum Skelin, IkaUNSPECIFIED
Lasan, RužicaUNSPECIFIED
Dominis, MaraUNSPECIFIED
Perković, LeilaUNSPECIFIED
Županić-Krmek, DubravkaUNSPECIFIED
Grgurević-Batinica, AnitaUNSPECIFIED
Date: June 2010
Date Deposited: 24 Nov 2010
Last Modified: 23 Sep 2011 16:11
Subjects: /
Related URLs:
    URI: http://medlib.mef.hr/id/eprint/897

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