Rarity of dominant-negative mutations of the G-CSF receptor in patients with blast crisis of chronic myeloid leukemia or de novo acute leukemia

Blast crisis, closely resembling acute leukemia, is the usual terminal event in chronic myeloid leukemia. Using physical (“fingerprint”) and cultural (colony-forming) methods, we have demonstrated distinctive patterns in the stable phase of chronic myeloid leukemia and in blast crisis. An unusual fingerprint alteration preceding the onset of the terminal phase is noted, and cell culture perturbation is evident at different stages of the disease. Our findings indicate that the application of these methods to the study of hemopoietic disorders is valid, and suggest that the use of such techniques may allow a better understanding of the complex cellular events occurring in the course of chronic myeloid leukemia.

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Pediatric Chronic Myeloid Leukemia with Megakaryocytic Blast Crisis as Initial Presentation: Case Report and Review of Literature

National Journal of Health Sciences ◽

10.21089/njhs.54.0171 ◽

2021 ◽

Vol 5 (4) ◽

pp. 171-174

Author(s):

Tuba Iqbal ◽

◽

Amber Younus ◽

Uzma Zaidi ◽

Jawad Hassan ◽

...

Keyword(s):

Bone Marrow ◽

Chronic Myeloid Leukemia ◽

Myeloid Leukemia ◽

Kinase Inhibitor ◽

De Novo ◽

Pediatric Population ◽

Blast Crisis ◽

Chronic Phase ◽

Transcript Level ◽

Young Female

Abstract: Background: Pediatric Chronic Myeloid Leukemia (CML) is a rare entity accounting for 2-3% of pediatric malignancies. CML rarely presents as Blast Crisis (BC) at the time of diagnosis, and megakaryocytic blast crisis is even rarer. Case Presentation: We herein, report a case of a young female, 10-year-old who presented with anemia, leukocytosis and massive splenomegaly. Clinical features, peripheral film and bone marrow findings were consistent with CML in megakaryocytic blast crisis. Bone marrow cytogenetic analysis revealed karyotype of 46, XX, t(9:22)(q34;q11.2) in 20 metaphases and BCR-ABL P210 by PCR was detected with transcript level of 83%, which further confirmed our diagnosis. Conclusion: De novo presentation of chronic myeloid leukemia with megakaryocytic blast crisis is rarely observed in pediatric population with very few cases published till now. We are presenting this case because of its rarity, likelihood of misdiagnosis as AML (M7) and poor prognosis, if not treated precisely. Keywords: Chronic Myeloid Leukemia (CML), Acute Myeloid Leukemia (AML), Blast Crisis (BC), Acute Megakaryocytic Leukemia (AMKL), Chronic Phase (CP), Accelerated Phase (AP), Tyrosine Kinase Inhibitor (TKI).

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Phenotype of early erythroblastic leukemias

Blood ◽

10.1182/blood.v68.5.1167.bloodjournal6851167 ◽

1986 ◽

Vol 68 (5) ◽

pp. 1167-1174 ◽

Cited By ~ 1

Author(s):

JL Villeval ◽

P Cramer ◽

F Lemoine ◽

A Henri ◽

A Bettaieb ◽

...

Keyword(s):

Chronic Myeloid Leukemia ◽

Myeloid Leukemia ◽

De Novo ◽

Chromosomal Abnormalities ◽

Blast Crisis ◽

Down's Syndrome ◽

Down’S Syndrome ◽

Intermediate Phenotype ◽

Erythroid Progenitor ◽

Frequent Event

Nine cases of early erythroblastic leukemia, unidentified by usual criteria, have been diagnosed using a panel of antibodies. Three cases arose in patients with Down's syndrome, one in a patient with therapy- related leukemia, and four patients were in blast crisis of chronic myeloid leukemia; only one case arose de novo. Blast cells could be assigned to two main stages of erythroid differentiation: presence of all erythroid-specific proteins in two patients, a phenotype corresponding to an immature erythroblast; absence of the erythroid markers such as glycophorin A and spectrin in the presence of carbonic anhydrase isoenzyme I, ABH group antigens, and the antigen defined by FA6 152 monoclonal antibody in six patients, a phenotype related to a late erythroid progenitor (CFU-E). One patient had an intermediate phenotype. All patients except one demonstrated a megakaryocytic component. In three patients, chromosomal abnormalities were present, detected both in blasts and in erythroid colonies. In conclusion, these findings indicate that most “cryptic erythroleukemias” are blocked at a “CFU-E-like” stage of differentiation, it may be a frequent event in Down's syndrome and chronic myeloid leukemia, and these erythroleukemias are phenotypically heterogeneous.

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Chronic myeloid leukemia: physical and functional similarities to acute leukemia

Blood ◽

10.1182/blood.v49.6.913.913 ◽

1977 ◽

Vol 49 (6) ◽

pp. 913-923 ◽

Cited By ~ 4

Author(s):

JS Senn ◽

GB Price

Keyword(s):

Cell Culture ◽

Chronic Myeloid Leukemia ◽

Acute Leukemia ◽

Myeloid Leukemia ◽

Blast Crisis ◽

Terminal Phase ◽

Stable Phase ◽

Terminal Event ◽

Cellular Events ◽

Forming Methods

Abstract Blast crisis, closely resembling acute leukemia, is the usual terminal event in chronic myeloid leukemia. Using physical (“fingerprint”) and cultural (colony-forming) methods, we have demonstrated distinctive patterns in the stable phase of chronic myeloid leukemia and in blast crisis. An unusual fingerprint alteration preceding the onset of the terminal phase is noted, and cell culture perturbation is evident at different stages of the disease. Our findings indicate that the application of these methods to the study of hemopoietic disorders is valid, and suggest that the use of such techniques may allow a better understanding of the complex cellular events occurring in the course of chronic myeloid leukemia.

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Unrelated Allogeneic Stem Cell Transplantation in a Patient with Chronic Myeloid Leukemia in Blast Crisis

Journal of Interdisciplinary Medicine ◽

10.1515/jim-2017-0049 ◽

2017 ◽

Vol 2 (2) ◽

pp. 160-163

Author(s):

István Benedek ◽

Erzsébet Lázár ◽

Judit Beáta Köpeczi ◽

István Benedek ◽

Aliz Beáta Tunyogi ◽

...

Keyword(s):

Stem Cell ◽

Chronic Myeloid Leukemia ◽

Acute Leukemia ◽

Hematopoietic Stem Cell ◽

Myeloid Leukemia ◽

Hematopoietic Stem Cell Transplant ◽

Blast Crisis ◽

Chronic Phase ◽

Cell Transplant ◽

Hematopoietic Stem

Abstract Chronic myeloid leukemia (CML) is a clonal myeloproliferative disorder, which can involve the hematopoietic stem cell or early progenitor cells, without the loss of their capacity to differentiate. Typically, CML has three clinical phases: a chronic phase, an accelerated phase, and an aggressive transformation in blast crisis, analogous to acute leukemia. The following article presents the case of a 49-year-old patient diagnosed with Philadelphia-negative CML in blastic transformation, where after multiple conventional acute leukemia induction chemotherapy regimens an unrelated allogeneic hematopoietic stem cell transplant was performed.

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Phenotype of early erythroblastic leukemias

Blood ◽

10.1182/blood.v68.5.1167.1167 ◽

1986 ◽

Vol 68 (5) ◽

pp. 1167-1174 ◽

Cited By ~ 55

Author(s):

JL Villeval ◽

P Cramer ◽

F Lemoine ◽

A Henri ◽

A Bettaieb ◽

...

Keyword(s):

Chronic Myeloid Leukemia ◽

Myeloid Leukemia ◽

De Novo ◽

Chromosomal Abnormalities ◽

Blast Crisis ◽

Down's Syndrome ◽

Down’S Syndrome ◽

Intermediate Phenotype ◽

Erythroid Progenitor ◽

Frequent Event

Abstract Nine cases of early erythroblastic leukemia, unidentified by usual criteria, have been diagnosed using a panel of antibodies. Three cases arose in patients with Down's syndrome, one in a patient with therapy- related leukemia, and four patients were in blast crisis of chronic myeloid leukemia; only one case arose de novo. Blast cells could be assigned to two main stages of erythroid differentiation: presence of all erythroid-specific proteins in two patients, a phenotype corresponding to an immature erythroblast; absence of the erythroid markers such as glycophorin A and spectrin in the presence of carbonic anhydrase isoenzyme I, ABH group antigens, and the antigen defined by FA6 152 monoclonal antibody in six patients, a phenotype related to a late erythroid progenitor (CFU-E). One patient had an intermediate phenotype. All patients except one demonstrated a megakaryocytic component. In three patients, chromosomal abnormalities were present, detected both in blasts and in erythroid colonies. In conclusion, these findings indicate that most “cryptic erythroleukemias” are blocked at a “CFU-E-like” stage of differentiation, it may be a frequent event in Down's syndrome and chronic myeloid leukemia, and these erythroleukemias are phenotypically heterogeneous.

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Differential expression of adenosine deaminase isozymes in acute leukemia

Blood ◽

10.1182/blood.v72.5.1627.bloodjournal7251627 ◽

1988 ◽

Vol 72 (5) ◽

pp. 1627-1632

Author(s):

H Ratech ◽

F Martiniuk ◽

WZ Borer ◽

H Rappaport

Keyword(s):

Acute Leukemia ◽

Adenosine Deaminase ◽

Myeloid Leukemia ◽

De Novo ◽

Blast Crisis ◽

Cell Types ◽

Information Analysis ◽

Exact Test ◽

Acute Nonlymphoblastic Leukemia ◽

Discriminatory Information

Total adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP) activities were measured in cell samples from 13 cases of de novo acute leukemia and from three cases of chronic myeloid leukemia in blast crisis (CMLBC). These cases could be separated into lymphoid and nonlymphoid types on the basis of enzyme activity, with two misclassifications. However, PNP activity added little or no discriminatory information. Analysis for expression of the various molecular weight (mol wt) ADA isozymes, ADA1 (40 Kd) and ADA2 (110 Kd), revealed that ADA2 was expressed exclusively in nonlymphoid cells whereas ADA1 was found in both lymphoid and nonlymphoid cell types. Identification of ADA2 divided these leukemia cases into lymphoid and nonlymphoid types with no misclassifications (P = .0002; Fisher's exact test). Acute nonlymphoblastic leukemia (ANLL) with a monocytic component tended to have a greater percentage of ADA2 than ANLL without a monocytic component. These studies suggest that ADA2 may be a novel biochemical marker for an immature nonlymphoid cell.

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