Involvement of erythrocytic and granulomonocytic lineages by trisomy 11 in two cases of acute myelomonocytic leukemia with trilineage myelodysplasia

Cuneo, Antonio; Balboni, Massimo; Carli, Maria Gretel; Bigoni, Renato; Roberti, G.; Pazzi, Isabella; Previati, Rita; Castoldi, Gianluigi

doi:10.1016/0165-4608(94)90145-7

Cited by 8 publications

(11 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In our study none of the four patients with exclusively abnormal metaphases (cases 1, 6, 7 and 10) achieved a CR compared to six of nine (67%) patients with a karyotypically normal clone. However, the CR rate in a subgroup of six previously reported þ11 patients with de novo AML who had only abnormal cells was almost the same as in a subgroup of 21 patients with a normal clone present in addition to a clone with þ11 (67% v 71%) (Li et al, 1983;Ohyashiki et al, 1988;Weh et al, 1988;Nakamura et al, 1989;Bilhou-Nabera et al, 1994;Cuneo et al, 1994;Slovak et al, 1995;Caligiuri et al, 1996;Satake et al, 1997). Thus at present it is unclear if the presence of a cytogenetically normal clone influences prognosis of patients with þ11.…”

Section: Discussionmentioning

confidence: 99%

“…Similarly, a cytogenetically normal cell line has been detected in most published þ11 cases with de novo AML (Yunis et al, 1981;Fitzgerald et al, 1983;Li et al, 1983;Gustavsson et al, 1984;Testa et al, 1985;Berger et al, 1987;Ohyashiki et al, 1988;Weh et al, 1988;Nakamura et al, 1989;Keinänen et al, 1989;Kadam et al, 1991;Furuya et al, 1992;Marosi et al, 1992;UKCCG, 1992;Fagioli et al, 1993;Suciu et al, 1993;Bilhou-Nabera et al, 1994;Cuneo et al, 1994;Bernard et al, 1995;Slovak et al, 1995;Caligiuri et al, 1996;Satake et al, 1997). In two-thirds of patients with normal metaphase cells in our series we observed more abnormal than normal cells, and this was the case in previous studies as well.…”

Section: Discussionmentioning

confidence: 99%

“…The reason why other groups did not recognize the correlation between þ11 and de novo AML of M2 and M1 subtypes may be that they reviewed not only þ11 cases with de novo AML but also patients with secondary AML and MDS (Bilhou-Nabera et al, 1994;Slovak et al, 1995). When we restricted our review of the literature to AML patients with no history of antecedent neoplasia, 80% of them (37/46 FAB classified patients) had M1 or M2 morphology (Yunis et al, 1981;Fitzgerald et al, 1983;Li et al, 1983;Testa et al, 1985;Berger et al, 1987;Ohyashiki et al, 1988;Weh et al, 1988;Keinänen et al, 1989;Nakamura et al, 1989;Tien et al, 1990;Kadam et al, 1991;Cuneo et al, 1992Cuneo et al, , 1994Hurwitz et al, 1992;Marosi et al, 1992;UKCCG, 1992;Fagioli et al, 1993;Suciu et al, 1993;Bilhou-Nabera et al, 1994;Bernard et al, 1995;Slovak et al, 1995;Caligiuri et al, 1996;Satake et al, 1997).…”

Section: Discussionmentioning

confidence: 99%

“…This is true for isolated trisomy 11 (þ11) despite the fact that þ11 is the third most common sole trisomy in de novo AML, following trisomies of chromosomes 8 and 13 [Cancer and Leukemia Group B (CALGB) cytogenetic data base, C. D. Bloomfield, personal communication, April 1996]. Many cases with þ11 have been reported as part of large series of AML patients with divergent cytogenetic abnormalities and often limited clinical data (Yunis et al, 1981;Fitzgerald et al, 1983;Li et al, 1983;Gustavsson et al, 1984;Testa et al, 1985;Berger et al, 1987;Keinänen et al, 1989;Kadam et al, 1991;Cuneo et al, 1992;Hurwitz et al, 1992;Marosi et al, 1992;UKCCG, 1992) or as case reports (Ohyashiki et al, 1988;Nakamura et al, 1989;Cuneo et al, 1994). The three largest series of de novo AML patients with þ11 detected at diagnosis we know of, were composed of 10 (Caligiuri et al, 1996), seven (Bilhou-Nabera et al, 1994) and six (Slovak et al, 1995) patients.…”

mentioning

confidence: 99%

See 3 more Smart Citations

Clinical characteristics of patients with de novo acute myeloid leukaemia and isolated trisomy 11: a Cancer and Leukemia Group B study

et al. 1998

View full text Add to dashboard Cite

Isolated trisomy 11 is the third most common sole trisomy in de novo acute myeloid leukaemia (AML). However, only 49 cases have been published, and for only a fraction of these cases has full description of clinical and haematological features been provided. As a result, little is known about the clinical characteristics of de novo AML patients with solitary trisomy 11. We have identified 13 patients (0.9%) with isolated trisomy 11 among a total of 1496 consecutive adult patients successfully karyotyped as part of a prospective Cancer and Leukemia Group B (CALGB) cytogenetic study (CALGB 8461). Nine patients (69%) were over the age of 60 (range 29–73 years). Eight patients (62%) were diagnosed with AML of FAB M2 subtype, three patients (23%) had FAB M1 AML and one patient each had AML of FAB M0 and M7, respectively. Seven patients (54%) had high, >100 × 109/l, platelet counts (median 102 × 109/l; range 17–207 × 109/l). All patients received CALGB induction therapy with standard doses of cytarabine and daunorubicin. Six patients (46%) achieved a complete remission (CR). The median CR duration was 17.5 months (range 8.7–49.8). Only one patient, who underwent bone marrow transplantation in first CR, continues in initial CR. The median survival was 14.3 months (range 0.5–50.7); only one patient survives. We conclude that de novo AML with isolated trisomy 11 is predominantly associated with older age, M2 and M1 FAB subtypes, high platelet count and few long‐term disease‐free survivals, although it is currently unknown whether isolated trisomy 11 constitutes an independent prognostic factor.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

See 2 more Smart Citations

Clinical characteristics of patients with de novo acute myeloid leukaemia and isolated trisomy 11: a Cancer and Leukemia Group B study

et al. 1998

View full text Add to dashboard Cite

show abstract

“…20 To date, information on lineage involvement in AML is scarce and usually limited to small series of patients. 1,2,4,6,[38][39][40] In AML with recurrent chromosomal abnormalities, such as t(15; 17), t(8;21), or inv (16), only a single-cell lineage appears to be involved. [41][42][43][44] Multilineage involvement is frequently observed in patients with AML carrying the inv(3)(q21q26).…”

Section: Discussionmentioning

confidence: 99%

Mutated nucleophosmin detects clonal multilineage involvement in acute myeloid leukemia: impact on WHO classification

Pasqualucci¹,

Liso²,

Martelli³

et al. 2006

Blood

View full text Add to dashboard Cite

Because of a lack of specific clonality markers, information on lineage involvement and cell of origin of acute myeloid leukemia with normal karyotype (AML-NK), is missing. Because Nucleophosmin (NPM) gene is frequently mutated in AML-NK and causes aberrant NPM cytoplasmic localization (NPMc ؉ ), it was used as an AML lineage clonality marker. Clonal NPM exon 12 mutations were detected in myeloid, monocytic, erythroid, and megakaryocytic cells but not in fibroblasts or endothelia that were lasermicrodissected from 3 patients with NPMc ؉ AML. Aberrant cytoplasmic expression of mutated NPM proteins was identified with anti-NPM antibodies in 2 or more myeloid hemopoietic cell lineages in 99 (61.5%) of 161 of NPMc ؉ AML paraffin-embedded bone marrow biopsies; lymphoid involvement was excluded in 3 investigated cases. These findings suggest that NPMc ؉ AML derives from either a common myeloid or earlier progenitor. IntroductionClonal cell lineage involvement in myelodysplastic syndrome and acute myeloid leukemia (AML) carrying recurrent genetic abnormalities can be successfully investigated by a number of techniques, including cytogenetics, fluorescence in situ hybridization (FISH), FISH combined with immunophenotyping, and polymerase chain reaction (PCR) on purified cell populations, which are all able to detect leukemia-specific molecular alterations. 1-7 Unfortunately, no specific genetic markers are as yet available for a significant proportion of AML. Under these circumstances, cell lineage clonality can be investigated by analysis of X-chromosome inactivation patterns, 8 but this technique has not been applied widely to AML. Thus, no or scarce information is available on cell lineage involvement or cell of origin in most AMLs, especially those with normal karyotype (AML-NK), 9 which lack specific clonality markers and account for 40% to 50% of de novo adult AML. 10 All genetically poorly defined AMLs, including AML-NK, are now included into the category of "acute myeloid leukemia not otherwise characterized" of the World Health Organization (WHO) classification. 11 This large, poorly characterized subgroup of AML is currently defined according to criteria of the French-AmericanBritish (FAB) classification 12 (with some modification), which is based on morphologic and cytochemical features of the leukemic cells and degree of maturation. Given its frequency and extreme heterogeneity, AML not otherwise characterized clearly needs to be defined better.We recently identified mutations of the NPM gene exon 12 as the most common and specific genetic lesion associated with AML-NK, 13 being observed in 50% to 60% of cases, as confirmed to date in more than 3500 patients with AML. [14][15][16][17][18][19] At the NPM protein C-terminus, these mutations modify critical tryptophan(s) and create a new nuclear export signal (NES) motif, which act together to aberrantly localize NPM leukemic mutants in the cytoplasm 20,21 -hence the term NPMc ϩ (cytoplasmic-positive) AML. 13 As the NPM mutant protein dislocates the NPM wild-t...

show abstract

Lymphoid involvement in a patient with acute myeloid leukemia: A direct phenotypic and genotypic study of single cells

El–Rifai

Larramendy

Ruutu

et al. 1996

Genes Chromosom. Cancer

View full text Add to dashboard Cite

Involvement of erythrocytic and granulomonocytic lineages by trisomy 11 in two cases of acute myelomonocytic leukemia with trilineage myelodysplasia

Cited by 8 publications

References 25 publications

Clinical characteristics of patients with de novo acute myeloid leukaemia and isolated trisomy 11: a Cancer and Leukemia Group B study

Clinical characteristics of patients with de novo acute myeloid leukaemia and isolated trisomy 11: a Cancer and Leukemia Group B study

Mutated nucleophosmin detects clonal multilineage involvement in acute myeloid leukemia: impact on WHO classification

Lymphoid involvement in a patient with acute myeloid leukemia: A direct phenotypic and genotypic study of single cells

Contact Info

Product

Resources

About