Acute monocytic leukemia and multiple abnormalities in a child with duplication of 1q detected by GTG-banding and SKY

Scrideli, Carlos Alberto; Baruffi, Marcelo Razera; Squire, Jeremy A.; Ramos, Ester Silveira; Karásková, Jana; Heck, Benjamin; Tone, Luíz Gonzaga

doi:10.1016/j.leukres.2005.04.022

Cited by 5 publications

(5 citation statements)

References 6 publications

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“…Recently, several new cases of partial trisomy 1q in pediatric patients have been reported associated with different types of neoplasia [Chan et al, 2002;Christiansen et al, 2005;Mark et al, 2005;Scrideli et al, 2005]. One patient was ascertained because of a diagnosis of T lymphoblastic lymphoma/leukemia [Chan et al, 2002]; surprisingly, this patient demonstrated a familial constitutional dup (1)(q11q22) and an apparently normal phenotype.…”

Section: Discussionmentioning

confidence: 99%

“…It is well known that there is an increased incidence of leukemia in individuals with constitutional aberrations such as trisomy 21, but an association with other constitutional trisomies is less clear. Recently, several other neoplastic disorders including acute monocytic leukemia [Scrideli et al, 2005], nephroblastomatosis [Christiansen et al, 2005], and Wilms tumor [Mark et al, 2005] have been reported in association with partial trisomy 1q. This has prompted the speculation that partial duplications of 1q may provide a predisposition to neoplastic transformation [Christiansen et al, 2005].…”

Section: Discussionmentioning

confidence: 99%

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De novo proximal duplication of 1(q12q22) in a female infant with multiple congenital anomalies

Sawyer

Binz

Swanson

et al. 2007

American J of Med Genetics Pt A

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Reports of small proximal 1q duplications are rare. We report a 1 month-old female who was referred to clinic because she was believed to have features suggestive of Turner syndrome. The patient's dysmorphic features included a prominent nose, low-set and crumpled ears, slightly high palate, short neck, high-pitched cry, mild micrognathia, hypoplastic labia majora, and somewhat deep palmar creases. Traditional G-band chromosome studies of the patient were interpreted as 46,XX,dup(1)(q12q21). To further evaluate the extent of the chromosome 1 duplication, Spectral Karyotyping and a series of six fluorescence in situ hybridization (FISH) probes were utilized. The FISH probes refined the extent of the duplication to involve the region 1(q12q22) indicating the duplicated segment was larger than interpreted by the G-banding studies. This first case of non-mosaic proximal duplication of 1q to be characterized by multiple locus specific FISH probes should allow a more refined delineation of the phenotypic findings and clinical significance associated with this rare chromosomal duplication.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

De novo proximal duplication of 1(q12q22) in a female infant with multiple congenital anomalies

Sawyer

Binz

Swanson

et al. 2007

American J of Med Genetics Pt A

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“…Recently several cases of partial trisomy 1q in children have been reported associated with different types of neoplasia, including Wilms tumor, acute monocytic leukemia, and nephroblastomatosis [Christiansen et al, 2005; Mark et al, 2005; Scrideli et al, 2005]. Two patients with a myelodysplastic syndrome were reported with partial trisomy of 1q (q21q32) as the sole cytogenetic change in their bone marrow cells [Alfaro et al, 2007], which is rarely observed as a primary change.…”

Section: Discussionmentioning

confidence: 99%

Mosaic trisomy 1q: The longest surviving case

Patel

Hardy

Cox

et al. 2009

American J of Med Genetics Pt A

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We present the longest known surviving case of a male infant with a mosaic complete trisomy 1q. Born at 39 weeks of gestation with respiratory distress, his weight was 3,330 g (25th centile); he had micrognathia, a posterior cleft of palate, abnormal ears and left thumb, syndactyly, and an absent corpus callosum. Initial blood karyotype was normal (46,XY). He died at age 5 months. Autopsy suggested aspiration as the primary cause of death and confirmed the antemortem findings of an absent corpus callosum and atrial septal defect. It also identified some central nervous system, cardiac, gastrointestinal, and lung anomalies not previously recognized. Cytogenetic analysis of skin fibroblasts obtained at autopsy showed a de novo unbalanced translocation between chromosomes 1 and 22: 46,XY,+1,der(1;22)(q10;q10)[25]/46,XY[65] in the cells examined. The previously reported cases had a similar phenotype with birth weight above the 50th centile for gestational age, small mouth, micrognathia, abnormal ears, abnormal fingers, microphthalmia, and hydrocephalus. The present case and a review of the literature delineates the phenotype in trisomy 1q, and reinforces the critical importance of effective communication between specialists, and obtaining permission for autopsy and skin biopsy, in the pursuit of a diagnosis.

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“…Besides, patients with 1q duplication showed worse survival and high risk in acute lymphoid leukemia, Burkitt lymphoma, and myeloproliferative neoplasms [41][42][43][44]. Moreover, previous studies suggest that partial trisomy for the 1q impacts the prognosis of AML, the 1q duplication portends the evolution of disease progression in hematological malignancies as a sole anomaly or associated with other changes [45][46][47]. As a very rare abnormality in AML patients, t(8;16)(p11.2;p13.3) was seldom reported compared to other chromosomal aberrations.…”

Section: Gain Of Chromosome 1q Is Often Involved In Chromosomal Transmentioning

confidence: 99%

Characterization of 1q Duplication by Array Comparative Genomic Hybridization in Acute Myeloid Leukemia Patients with t(8;16)(p11.2;p13.3)

Li¹,

Ren²,

Wang³

et al. 2020

Preprint

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Background: Acute myeloid leukemia (AML) is a complex hematological disease characterized by genetic and clinical heterogeneity. The identification and understanding of chromosomal abnormalities are important for the diagnosis and management of AML patients. Compared to recurrent chromosomal translocations in AML, t(8;16)(p11.2;p13.3) can be found in any age group, but is very rare and typically associated with poor prognosis. Methods: Cytogenetic studies were performed among 1,824 AML patients from our oncology database in the last 20 years by karyotype analysis. Fluorescence in situ hybridization (FISH) was used to further confirm the chromosomal translocation fusion. Array comparative genome hybridization (aCGH) was carried out to characterize the additional chromosomal segments in patients with t(8;16)(p11.2;p13.3). Results: Three patients with t(8;16)(p11.2;p13.3) were identified. One patient was pure t(8;16)(p11.2;p13.3), and the other two had an additional chromosomal anomaly of 1q duplication. Interestingly, the molecular size and position of this 1q duplication were similar in both patients, showing as 46.7 Mb and 49.9 Mb, respectively. Conclusion: 1q duplication is a recurrent event in AML patients with t(8;16)(p11.2;p13.3), indicating it could also play a role of an unfavorable prognostic factor.

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Acute monocytic leukemia and multiple abnormalities in a child with duplication of 1q detected by GTG-banding and SKY

Cited by 5 publications

References 6 publications

De novo proximal duplication of 1(q12q22) in a female infant with multiple congenital anomalies

De novo proximal duplication of 1(q12q22) in a female infant with multiple congenital anomalies

Mosaic trisomy 1q: The longest surviving case

Characterization of 1q Duplication by Array Comparative Genomic Hybridization in Acute Myeloid Leukemia Patients with t(8;16)(p11.2;p13.3)

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