Lineage Specificity in Haematological Neoplasms

Knuutila, Sakari

doi:10.1046/j.1365-2141.1997.d01-1988.x

Cited by 26 publications

(16 citation statements)

References 35 publications

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“…Although heterogeneity of lineage involvement by specific chromosome aberrations was documented in myeloid neoplasias, 15,43 our data show a relatively lineage-specific distribution of cryptic chromosome lesions. Indeed, with the exception of patient No.…”

Section: Discussionmentioning

confidence: 90%

“…When used in interphase cells FISH analysis may also enable detection of minor abnormal clones, which may sometimes be difficult to detect by CCA due to their low mitotic index. 6,15 Indeed, there are some recent reports in the literature, supporting the existence of occult chromosome deletions and trisomies in some patients with myeloid neoplasias bearing a normal karyotype, [16][17][18][19] but scant information is available on AML. 20 We carried out a FISH study of 82 cytogenetically normal AMLs with the the following aims: (1) to determine the frequency of occult chromosome deletions and trisomies; (2) to sort out whether the failure of CCA to detect a chromosome anomaly derived from a low mitotic index of the aberrant clone or by the sub-microscopic nature of the rearrangement; (3) to identify the cell-lineage involved by the occult chromosome anomaly; and (4) to describe salient hematologic and clinical features of patients with cryptic deletions or trisomies.…”

Section: Introductionmentioning

confidence: 99%

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Incidence and significance of cryptic chromosome aberrations detected by fluorescence in situ hybridization in acute myeloid leukemia with normal karyotype

et al. 2002

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To better define the incidence and significance of cryptic chromosome lesions in acute myeloid leukemia (AML), fluorescence in situ hybridization (FISH) studies were performed in interphase cells and, when appropriate, in metaphase cells and in morphologically intact BM smears. Fifty-five adult de novo AML (group A) and 27 elderly AML or AML after myelodysplastic syndrome (AML-MDS) (group B) were tested using probes detecting the following anomalies: −5, −7, +8, deletions of 5q31, 7q31, 12p13/ETV6, 17p13/p53, 20q11. All the patients had a normal karyotype in more than 20 cells and tested negative for the common AML-associated fusion genes. No patient in group A was found to carry occult chromosome anomalies, whereas 8/27 patients in group B (P Ͻ 0.0001) showed 5q31 or 7q31 deletion (three cases each), a 17p13/p53 deletion or trisomy 8 (one case each) in 33-60% interphase cells. Metaphase cells showed only one hybridization signal at 5q31 (three cases) and 7q31 (one case), whereas two normal signals at 7q31 and chromosome 8 centromeres were seen in two patients with 7q deletion and trisomy 8 in interphase cells. The majority of blast cells (76-94%) carried the chromosome anomaly in all cases; erythroid involvement in a minority of cells was seen in three patients. In group B, the presence of occult chromosome anomalies was associated with exposure to myelotoxic agents in the workplace (5/8 cases vs 3/19, P = 0.026) and with a lower complete remission rate (0/6 patients vs 7/12, P = 0.024). We arrived at the following conclusions: (1) cryptic chromosome deletions in the order of a few hundred kb magnitude may be found in a fraction of elderly AML or MDS-related AML and not in de novo adult AML with normal karyotype; (2) these chromosome lesions are usually represented by submicroscopic rearrangements; (3) they display a specific pattern of cell-lineage involvement arguing in favor of their role in the outgrowth of the leukemic blast cells; (4) they are associated with a history of exposure to myelotoxic agents in the workplace and, possibly, with resistance to induction treatment.

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Section: Discussionmentioning

confidence: 90%

Section: Introductionmentioning

confidence: 99%

Incidence and significance of cryptic chromosome aberrations detected by fluorescence in situ hybridization in acute myeloid leukemia with normal karyotype

et al. 2002

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“…25,47 Pro-B-cell involvement has been shown for patients with 5q-syndrome and monosomy 7. 25,48 Conversely, trisomy 8 has not been shown in the B progenitors, 26 although this may reflect functionally defective HSCs in trisomy 8 MDS.…”

Section: Discussionmentioning

confidence: 98%

Evidence for reduced B-cell progenitors in early (low-risk) myelodysplastic syndrome

Sternberg¹

2005

Blood

127

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“…Based on the recently supported thesis that CML originates from an early uncommitted haemopoietic stem cell and is thus a multilineage disease (Haferlach et al, 1997), whereas Phpositive ALL was postulated to involve the lymphoid lineage only (Anastasi et al, 1996;Knuutila, 1997), the current study investigated the lineage-specific involvement of Ph-positive ALL. For this purpose a combination of the standard MayGrü nwald-Giemsa (MGG) staining and fluorescence in situ hybridization (FISH) was applied to detect the Ph translocation in interphase nuclei in four cases of Ph-positive ALL.…”

mentioning

confidence: 99%

New insights into the biology of Philadelphia‐chromosome‐positive acute lymphoblastic leukaemia using a combination of May‐Grünwald‐Giemsa staining and fluorescence in situ hybridization techniques at the single cell level

Haferlach

Winkemann²,

Ramm‐Petersen³

et al. 1997

Br J Haematol

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It is sometimes difficult to discriminate chronic myeloid leukaemia (CML) in lymphatic blast crisis from Ph‐chromosome positive acute lymphoblastic leukaemia (ALL). Previous studies have suggested that ALL is restricted to the lymphatic lineage only, whereas CML involves all cell lineages. In four cases of Ph‐positive ALL we combined the standard May‐Grünwald‐Giemsa staining with FISH at the single cell level and were able to demonstrate that 98% of lymphatic blasts carried the Philadelphia chromosome. Erythropoiesis was not involved when this technique was applied. Using immunological identification of single cells (FICTION), we detected the t(9;22) in 100% of CD19‐positive B lymphoblasts in all four cases, in some CD3‐positive T cells in two patients, and in 98% of CD34‐positive precursor cells. However, in two out of four patients the myeloid cell compartment was involved in the malignant transformation, unequivocally demonstrated not only by the combination of MGG and FISH but also by FICTION using the antibodies CD13 and CD33. The observation that both patients with myeloid cell lineage involvement had a myeloid co‐expression on their blasts and a better survival supports the concept of a separate, biologically determined subgroup in Ph‐positive ALL, leading to further investigations, and individually tailored treatment strategies.

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Lineage Specificity in Haematological Neoplasms

Cited by 26 publications

References 35 publications

Incidence and significance of cryptic chromosome aberrations detected by fluorescence in situ hybridization in acute myeloid leukemia with normal karyotype

Incidence and significance of cryptic chromosome aberrations detected by fluorescence in situ hybridization in acute myeloid leukemia with normal karyotype

Evidence for reduced B-cell progenitors in early (low-risk) myelodysplastic syndrome

New insights into the biology of Philadelphia‐chromosome‐positive acute lymphoblastic leukaemia using a combination of May‐Grünwald‐Giemsa staining and fluorescence in situ hybridization techniques at the single cell level

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