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Pregled bibliografske jedinice broj: 460501

Juvenile Myelomonocytic Leukemia with PTPN11 Mutation in a 23-Month-Old Girl


Jakovljević, Gordana; Kardum-Skelin, Ika; Rogošić, Srđan; Nakić, Melita
Juvenile Myelomonocytic Leukemia with PTPN11 Mutation in a 23-Month-Old Girl // Collegium antropologicum, 34 (2010), 1; 251-254 (podatak o recenziji nije dostupan, prethodno priopćenje, stručni)


CROSBI ID: 460501 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Juvenile Myelomonocytic Leukemia with PTPN11 Mutation in a 23-Month-Old Girl

Autori
Jakovljević, Gordana ; Kardum-Skelin, Ika ; Rogošić, Srđan ; Nakić, Melita

Izvornik
Collegium antropologicum (0350-6134) 34 (2010), 1; 251-254

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, prethodno priopćenje, stručni

Ključne riječi
juvenile myelomonocytic leukemia; JMML; PTPN11 gene mutation

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA


Projekti:
108-1081873-1893 - Prognostički faktori, dijagnostika i terapija hemoblastoza (Jakšić, Branimir, MZOS ) ( POIROT)
198-1980955-0953 - Imunobiologija kronične B-limfocitne leukemije i mikrookoliš (Jakšić, Ozren, MZOS ) ( POIROT)

Ustanove:
Klinička bolnica "Merkur",
Klinika za dječje bolesti Medicinskog fakulteta,
Medicinski fakultet, Zagreb

Citiraj ovu publikaciju

Jakovljević, Gordana; Kardum-Skelin, Ika; Rogošić, Srđan; Nakić, Melita
Juvenile Myelomonocytic Leukemia with PTPN11 Mutation in a 23-Month-Old Girl // Collegium antropologicum, 34 (2010), 1; 251-254 (podatak o recenziji nije dostupan, prethodno priopćenje, stručni)
Jakovljević, G., Kardum-Skelin, I., Rogošić, S. & Nakić, M. (2010) Juvenile Myelomonocytic Leukemia with PTPN11 Mutation in a 23-Month-Old Girl. Collegium antropologicum, 34 (1), 251-254.
@article{article, year = {2010}, pages = {251-254}, keywords = {juvenile myelomonocytic leukemia, JMML, PTPN11 gene mutation}, journal = {Collegium antropologicum}, volume = {34}, number = {1}, issn = {0350-6134}, title = {Juvenile Myelomonocytic Leukemia with PTPN11 Mutation in a 23-Month-Old Girl}, keyword = {juvenile myelomonocytic leukemia, JMML, PTPN11 gene mutation} }
@article{article, year = {2010}, pages = {251-254}, keywords = {juvenile myelomonocytic leukemia, JMML, PTPN11 gene mutation}, journal = {Collegium antropologicum}, volume = {34}, number = {1}, issn = {0350-6134}, title = {Juvenile Myelomonocytic Leukemia with PTPN11 Mutation in a 23-Month-Old Girl}, keyword = {juvenile myelomonocytic leukemia, JMML, PTPN11 gene mutation} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Social Science Citation Index (SSCI)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE





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