Familial Acute Myeloid Leukaemia with Acquired Pelger-Huet Anomaly and Aneuploidy of C Group
| Autor: | H. Valdimarsson, A.S.D. Spiers, O. Jensson, Daniel Catovsky, Juginder Kaur |
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| Rok vydání: | 1972 |
| Předmět: |
Adult
Male Adolescent Iceland Clone (cell biology) Aneuploidy Chromosome Disorders Biology Bone Marrow hemic and lymphatic diseases medicine Humans Myelofibrosis Aged General Environmental Science Chromosome Aberrations Chromosomes Human 6-12 and X medicine.diagnostic_test Immunologic Deficiency Syndromes General Engineering Anemia Aplastic Chromosome Bone Marrow Examination Karyotype Papers and Originals General Medicine Middle Aged medicine.disease Clone Cells Pedigree Bone marrow examination Leukemia Myeloid Acute medicine.anatomical_structure Karyotyping Immunology Pelger–Huet anomaly General Earth and Planetary Sciences Female Bone marrow Warts Oncogenic Viruses Pelger-Huet Anomaly Precancerous Conditions Osteosclerosis |
| Zdroj: | BMJ. 4:327-331 |
| ISSN: | 1468-5833 0959-8138 |
| DOI: | 10.1136/bmj.4.5836.327 |
| Popis: | All five members of one generation in an Icelandic family were affected by acute myeloid leukaemia or preleukaemia. Two sibs died of acute myeloid leukaemia and another of myelofibrosis associated with leukaemic changes. The other two sibs are alive; one of them (the propositus) has haematological features consistent with preleukaemia; both of them have evidence of an abnormal cytogenetic clone in the bone marrow with 47 chromosomes, an extra chromosome in the C group. The finding of the acquired Pelger-Huët anomaly in the neutrophils of the five affected sibs suggests that a specific genetic cell defect has been transmitted with autosomal dominant characteristics. The presence of immunological deficiencies and an undue susceptibility to oncogenic viruses, as suggested by warts affecting three family members, may have played a part in the pathogenesis of the leukaemic process. |
| Databáze: | OpenAIRE |
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