Trisomy 14 in hematologic diseases

Mancini, Marco; Cedrone, Michele; Nanni, Mauro; Rondinelli, Maria Beatrice; Petti, Maria Concetta; Cuia, Maria Rosaria De

doi:10.1016/0165-4608(93)90146-d

Cited by 19 publications

(6 citation statements)

References 15 publications

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“…In a literature review, survival data from 18 patients suggest an intermediate prognosis. 51 These data are supported by the findings of Cui et al who reported a median survival of 28 months in MDS, 31.5 months in MDS/MPN and nine months in AML. 50 …”

Section: Introductionsupporting

confidence: 75%

“…Hb values ranged between 4.0 g/dl and 12.0 g/dl (median 9.8 g/dl) in the review of Mancini with comparable data (median 10.0 g/dl) in the series of Cui. 50 , 51 Leukocytes ranged between 2.6/nl and 9.2/nl (median 3.8/nl) in Mancini’s series and between 1.6 and 8.8/nl (median 4.2/nl) in Cui’s cohort thus being moderately reduced to normal.…”

Section: Introductionmentioning

confidence: 85%

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Rare Cytogenetic Abnormalities in Myelodysplastic Syndromes

Schanz¹,

Braulke²,

Haase

2015

Mediterr J Hematol Infect Dis

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The karyotype represents one of the main cornerstones for the International Prognostic Scoring System (IPSS) and the revised IPSS-R (IPSS-R) that are most widely used for prognostication in patients with myelodysplastic syndromes (MDS). The most frequent cytogenetic abnormalities in MDS, i.e. del(5q), -7/del(7q), +8, complex karyotypes, or −Y have been extensively explored for their prognostic impact. The IPSS-R also considers some less frequent abnormalities such as del(11q), isochromosome 17, +19, or 3q abnormalities. However, more than 600 different cytogenetic categories had been identified in a previous MDS study. This review aims to focus interest on selected rare cytogenetic abnormalities in patients with MDS. Examples are numerical gains of the chromosomes 11 (indicating rapid progression), of chromosome 14 or 14q (prognostically intermediate to favorable), -X (in females, with an intermediate prognosis), or numerical abnormalities of chromosome 21. Structural abnormalities are also considered, e.g. del(13q) that is associated with bone marrow failure syndromes and favorable response to immunosuppressive therapy. These and other rare cytogenetic abnormalities should be integrated into existing prognostication systems such as the IPSS-R. However, due to the very low number of cases, this is clearly dependent on international collaboration. Hopefully, this article will help to inaugurate this process.

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Section: Introductionsupporting

confidence: 75%

Section: Introductionmentioning

confidence: 85%

Rare Cytogenetic Abnormalities in Myelodysplastic Syndromes

Schanz¹,

Braulke²,

Haase

2015

Mediterr J Hematol Infect Dis

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“…In addition, we noted a male predominance with a male to female ration of 12 : 4. Hematological features in those patients with trisomy 14 described previously included monocytosis and relatively preserved platelet count [5, 7, 8, 14, 17]. Absolute monocytosis was present in 4 cases of CMML and 1 case of RAEB-2 in our cohort.…”

Section: Discussionmentioning

confidence: 49%

“…Emerging new clone with del(20q) was previously reported in one MDS patient with isolated +14 during disease progression [5]. Toze et al also showed an acquired trisomy 21 in an AML patient with isolated +14 during disease relapse [8].…”

Section: Discussionmentioning

confidence: 99%

Trisomy 14 as a Sole Chromosome Abnormality Is Associated with Older Age, a Heterogenous Group of Myeloid Neoplasms with Dysplasia, and a Wide Spectrum of Disease Progression

Cui

Bueso‐Ramos

Yin

et al. 2010

Journal of Biomedicine and Biotechnology

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Trisomy 14 is a rare recurrent cytogenetic abnormality in myeloid neoplasms; however, its clinicopathologic features have not been well described. We report the clinicopathologic, immunophenotypic, and molecular genetic features of 16 cases of myeloid neoplasms with isolated trisomy 14. Our results show that cases with isolated trisomy 14 encompass a heterogenous group of myeloid neoplasms including myelodysplastic syndrome (MDS, 44%), myelodysplastic/myeloproliferative neoplasms (31%), and acute myeloid leukemia (25%). The patients are usually elder (median age 71 years), and there is a male predominance (82%). Multilineage dysplasia is noted in all cases. Oncogenic mutations of genes involved in cell proliferation and/or survival rarely occur. Compared with cases of MDS with diploid karyotype, patients of MDS with isolated trisomy 14 demonstrate a similar overall survival and rate of leukemia transformation.

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“…In the literatures, several CML cases with t(9;22;21) have been reported [1,[3][4][5][6][7]. The vast majority of these display t(9;22;21)(q34;q11;q22).…”

mentioning

confidence: 99%