Familial hemophagocytic lymphohistiocytosis (FLH) is an autosomal recessively inherited multisystem disease. This defect in cellular cytotoxicity is a life threatening condition characterized by ...fever, rash, splenomegaly, cytopenias and neurologic manifestations. PRF1, UNC13D and STX11 gene defects underlie in about 40-50% of primary cases. Chemoimmunotherapy followed by hematopoietic stem cell transplantation improved disease outcome. We report a case of a 6-week-old boy who presented with a fever, diffuse rash, disseminated intravascular coagulation, hypofibrinogenemia, hypertrigliceridemia, hepatosplenomegaly, leukocytosis with 90% of lymphocytes, granulocytopenia, anemia, trombocytopenia, hyperferritinemia and pathological findings in cerebrospinal fluid. The patient had decreased frequency of NK cells and low NK cell activity in peripheral blood. Bone marrow aspiration analysis showed degenerative changes of histocyte cells, with preserved cytophages (lymphophages and erythrophages) consistent with hematophagocytic syndrome. Given that the molecular diagnosis of the known mutations in genes PRF1 and UNC13D showed a mutation in UNC13D, the diagnosis of familial hemophagocytic lymphohistiocytosis subtype 3 was established. HLH-2004 chemotherapy protocol was performed and partial remission with residual central nervous system disease was achieved. Hematopoietic stem cell transplantation was successfully performed with an unrelated HLA-matched donor. Familiar HLH is generally a progressive and fatal disease. Early diagnosis with molecular genetic analysis and chemoimmunotherapy followed by hematopoietic stem-cell transplantation is the best approach.
Uspješno liječenje dječjih leukemija Konja, Josip; Aničić, Mirna; Glavaš, Blanka ...
Libri oncologici,
11/2005, Volume:
33, Issue:
1-3
Journal Article
Peer reviewed
Open access
Nakon nesretnih slučajeva i prometnih nesreća maligne bolesti su na drugom mjestu me|u uzrocima smrtnosti u djece. Od malignih bolesti u djece najčešće su leukemije. Posljednjih desetak godina su ...dijagnostika i liječenje malignih bolesti u djece znatno napredovali. Najveći napredak postignut je u liječenju dječjih leukemija, tako da se većina djece s leukemijom danas može izliječiti. U radu se iznose načela dijagnostike i liječenja dječjih leukemija.
Maligne bolesti su jedan od vodećih uzroka smrtnosti djece u Europi i Americi. Posljednjih desetak godina učinjen je bitan napredak kako u dijagnostici tako i u njihovom liječenju, naročito u ...liječenju malignih limfoma. Uvođenjem novih metoda liječenja (nove kombinacije citostatika, zračenja, kirurškog zahvata, monoklonskih antitijela te transplantacije koštane srži) i u ovih bolesnika danas je moguće postići visok postotak dugotrajnih remisija i izlječenja.
In the course of continuing education for physicians on nongynaecological cytology, together with the topics about development and actual situation in clinical cytology, especially in Croatia, as ...well as those about the technical procedures in cytology, the clinicians' participation in the interpretation of cytological diagnosis was discussed. The term "clinicians" is used here for those physicians who need a rapid, accurate and nonaggressive morphological diagnostic method for the treatment of their patients. The central part of the course was a round-table discussion about the role of clinicians in making cytological diagnosis, with participation of cytologists and clinicians from various branches of medicine, who are either cytologists, or have a good contact with cytologists. They answered questions about the clinicians' information on cytology, about the contact and collaboration between cytologists and clinicians, and about their own experience in everyday cytological practice. The aim of this discussion was to provide sufficient information to clinicians on cytological diagnostics, and the emphasis on team-work was made.
Biljezi i citološke osobitosti tumora Nakić, Melita; Žižić, Vesna
Medicus (Zagreb, Croatia : 1992),
11/2001, Volume:
10, Issue:
2_Maligni tumori
Journal Article
Peer reviewed
Open access
Članak daje pregled mogućnosti citodijagnostike
i tumorskih biljega u ranom otkrivanju i dijagnosticiranju
malignih bolesti, posebno u djece, te prognostičko značenje
u terapijskom praćenju ...bolesnika. Obrađene su citodijagnostičke
metode uz suvremenu uporabu novih tehničkih mogućnosti
na citološkim razmazima. U dijagnostici malignih tumora,
među ostalim dijagnostičkim postupcima, važno mjesto
ima i određivanje tumorskih biljega u serumu. Tumorski su biljezi
tvari kojih prisutnost ili povišenje koncentracije ili aktivnosti
s velikom vjerojatnošću označuje prisutnost malignog
tumora. Tumorski biljezi mogu biti antigeni, hormoni, proteini
i enzimi. Niz godina su napori istraživača i kliničara usmjereni
otkrivanju tzv. idealnog tumorskog biljega visoke dijagnostičke
osjetljivosti i specifičnosti.
Ispitivanja spontane pojave prematurne kondenzacije kromosoma (PCC) u djece s malignom bolešću su oskudna. Nije poznata učestalost PCC-a i njegovo biološko i kliničko značenje. U ovom radu ...prikazujemo rezultate ispitivanja spontane pojave fuzijom-potaknute-PCC u 85-ero djece s akutnom leukemijom. Analiza je obavljena u vrijeme postavljanja dijagnoze na preparatima dobivenim 24-satnom kulturom stanica koštane srži i/ili periferne krvi bez stimulacije mitogenom. PCC je otkriven u 6-ero (7,1%) pacijenata, u 3-je (9,4%) od 32-je bolesnika s AML-om i u 3-je (5,7%) od 53-je djece s ALL-om (uključujući 3-je bolesnika s morfološki nediferenciranom leukemijom, i fenotipskim svojstvima ALL-a). Rezultati upućuju na to da PCC nije rijetka pojava u djece s hemoblastozama. Ispitivanje, međutim, ne potvrđuje pretpostavku da je fenomen PCC jedan od mehanizama nastanka varijabilnosti genoma i evolucije tumorskog klona u djece s akutnom leukemijom.
Juvenile myelomonocytic leukemia (JMML) is a rare clonal myeloproliferative disorder affecting young children. The natural course of JMML is rapidly fatal with 80% of patients surviving less than ...three years. Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment of JMML. We report a case of a 23-month-old girl who presented with an upper respiratory tract infection, fever, rash, diarrhea, hepatosplenomegaly and abdominal distention. Severe elevation of white blood cell count with monocytosis and myeloid progenitors in the peripheral blood was also detected. Bone marrow smear showed morphology suggestive of JMML, an unspecific immune phenotype and a normal karyotype. DNA analysis revealed a mutation in the PTPN11 gene. Therefore, the final diagnosis of JMML with somatic PTPN11 mutation was established. Following three months of cytostatic therapy with 6-mercaptopurine and low doses of cytarabine partial remission was achieved and allogeneic HSCT was successfully performed. Six months after the diagnosis, the girl was in a good condition and in a complete remission of JMML. Early diagnosis and allogeneic HSCT were crucial for successful treatment outcome.
