Cytogenetic Studies of Peripheral Myeloblasts and Bone Marrow Fibroblasts in Acute Myelofibrosis

Abstract

Chromosome analysis with giemsa-trypsin banding was performed on circulating myeloblasts and cultured bone marrow fibroblasts from a patient with acute myelofibrosis. Major karyotypic abnormalities were found in the myeloblasts involving chromosomes #1, 3, 5, 13, and 16; no chromosome abnormalities were detected in the fibroblasts. In addition, a pericentric inversion of number 7 was present in the circulating blasts but not the fibroblasts. Pericentric inversions have not previously been associated with acquired abnormalities of malignant cells. These findings support the concept that acute myelofibrosis is a primary malignancy of hematopoietic cells associated with secondary marrow fibrosis. The entity of acute myelofibrosis is discussed and the results of cytogenetic studies of previous reports are reviewed.

Leukemia with Megakaryocytic Differentiation following Essential Thrombocythemia and Myelofibrosis

“…Clinical observations also suggest a role for platelet factor 4 released from a-granules as a fibroblast mitogen pathogenetically related to the devel opment of marrow fibrosis in patients with myeloprolifer ative disorders [21]. Furthermore, various cytogenetic studies failed to demonstrate chromosomal abnormalities in fibroblasts in spite of multiple changes in hematopoiet- ic cells, corroborating the nature of a primary hemopoiet ic defect in myelofibrosis, possibly in a pluripotent cell [22][23][24][25].…”

“…How ever, in this case the abnormal karyotype was identified in the preterminal stage and it is uncertain if it was present in the bone marrow at presentation. Cytogenetic studies in myelofibrosis and megakaryoblastic leukemia have been reported by several investigators [21][22][23]42,43] and were recently reviewed by Lu et al [44], Most patients were younger than 4 years and less than 30% were older than 16 years. Approximately 40% of the 115 cases reviewed were pediatric patients with Down's syndrome.…”

Acute Promyelocytic Leukemia with Marrow Fibrosis at Initial Presentation: Possible Involvement of Transforming Growth Factor-β₁

“…Bone marrow fibroblasts obtained from patients with marrow fibrosis have a normal karyotype, while their blasts show chromosomal abnormalities [12], suggesting that cytokines secreted by leukemic cells may be responsible for the fibrosis. The important cytokines participating in marrow fibrosis are TGF-β 1 , PDGF, and bFGF.…”

New Сytogenetic Approaches in Patients with Primary Myelofibrosis

“…По итогам ранее выполненных работ [8][9][10][11][12][13][14][15] в список вовлеченных в перестройки были включены хромосомы 1, 3, 7, 8, 9, 11, 13, 17, 21 и 22. Основной акцент делался на повреждения хромосом 3, 1 и 13 [9,13].…”

“…В тетраплоидных метафазах эта аномалия не обнаружена. Обобщенный кариотип клеток выглядел следующим образом: 46,XX, der(16)t(1;16) (q21;p13) [5]/92,XXXX [5]/46,XX [10].…”