Malignant myeloid transformation with isochromosome 7q in Shwachman–Diamond syndrome
نویسندگان
چکیده
منابع مشابه
Allogeneic Bone Marrow Transplantation in Shwachman-Diamond Syndrome with Malignant Myeloid Transformation. A Case Report
Shwachman-Diamond syndrome (SDS) is a rare genetic disorder of unknown pathogenesis involving exocrine pancreatic insufficiency and hematological and skeletal abnormalities. About 25% of patients develop hematopoietic malignancies. We report on a case of acute myeloid leukemia (M2) in a 21-year-old woman affected by SDS. She was treated with conventional chemotherapy (idarubicin plus cytarabine...
متن کاملMalignant myeloid transformation in a child with severe congenital neutropenia (Kostmann's syndrome).
We report a case of a child with severe congenital neutropenia (Kostmann's syndrome) who was treated with daily prophylactic subcutaneous granulocyte colony-stimulating factor (G-CSF) from the age of eight to sixteen years before being discontinued for poor haematological and clinical response. She did not have a HLA-matched sibling to enable bone marrow transplantation. She subsequently develo...
متن کاملConcomitant isochromosome 17q and trisomy 14 in a patient with myelodysplastic syndrome in leukemic transformation.
We describe a novel case of simultaneous karyotypic abnormalities of isochromosome 17q and trisomy 14 in a patient with myelodysplastic syndrome (MDS) in leukemic transformation. A 66-yr-old Korean man was admitted to Severance Hospital for evaluation of pancytopenia. On the basis of bone marrow studies at 3 different stages, he was diagnosed with MDS in leukemic transformation. Chromosome kary...
متن کاملIsochromosome Xq in Mosaic Turner syndrome
A 17-year old female has been referred for karyotyping and genetic counseling. Proband had primary amenorrhea, short stature and poorly developed secondary sexual characteristics. Ultrasound scanning showed hypoplastic uterus and gonadal dysgensis. Chromosomal analysis revealed the mosaic status for the isochromosome formation in the long arm of X, i(Xq). Proband had 3 cell lines. Her karyotype...
متن کاملOverexpression of p53 protein in Barrett's syndrome with malignant transformation.
AIMS To study the overexpression of p53 protein in Barrett's oesophagus with adenocarcinoma, and to correlate this expression with the pathological features of Barrett's syndrome. METHODS Immunohistochemical staining was performed on frozen sections with a monoclonal antibody directed against wild type and mutated p53 protein (Pab 1801). Eleven cases of Barrett's adenocarcinoma were studied, ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Leukemia
سال: 1998
ISSN: 0887-6924,1476-5551
DOI: 10.1038/sj.leu.2401147