Identification of a cryptic submicroscopic deletion using a combination of fluorescence in situ hybridization and array comparative genomic hybridization in a t(3;5)(q25;q35)-positive acute myeloid leukemia patient

Abstract

Rationale: The advent of high-resolution genome arrays including array comparative genomic hybridization (aCGH) has enabled the detection of cryptic submicroscopic deletions flanking translocation breakpoints in up to 20% of the apparently “balanced” structural chromosomal rearrangements in hematological disorders. However, reports of submicroscopic deletions flanking the breakpoints of t(3;5)(q25;q35) are rare and the clinical significance of submicroscopic deletions in t(3;5) has not been explicitly identified. Patient concerns: We present a 47-year-old man with acute myeloid leukemia. G-banding analysis identified t(3;5)(q25;q35). Diagnosis: Array CGH-based detection initially confirmed only the deletion of chromosome 3. Further characterization using fluorescence in situ hybridization identified a cryptic submicroscopic deletion including 5′ MLF1-3′ NPM1 flanking the breakpoint on the derivative chromosome 3. Interventions: The patient started “7+3” induction chemotherapy with cytosine arabinoside and daunorubicin, and subsequently received 2 cycles of high-dose intermittent acronym of cytosine arabinoside or cytarabine. Outcomes: The patient did not undergo complete remission and died from an infection due to neutropenia. Lessons: Haploinsufficiency of NPM1 or other deleted genes, including SSR3 , may be responsible for the phenotype of t(3;5)(q25;q35)-positive myeloid neoplasms with submicroscopic deletions.

SSR3 and SEC61G co-expression promotes proliferation in hepatocellular carcinoma cells

“…4 Orthopedics department of integrated traditional Chinese and Western Medicine, First A liated Hospital Nanchang University, Nanchang 330000, China. 5 School of management, Tianjin University of traditional Chinese Medicine, Tianjin 301617, China…”

“…As an example, the upregulation of signal sequence receptor 3 (SSR3) has been linked to tumorigenesis. Early studies report that abnormal upregulation of SSR3 is associated with the metastasis of colorectal cancer [3], breast cancer [4], and acute myeloid leukaemia [5]. Another study found that SSR3 mutations could cause a novel congenital disorder of glycosylation [6].…”

Myelodysplastic and Myeloproliferative Neoplasms: Updates On The Overlap Syndromes

“…Conventional karyotyping is the study of chromosomes and consider the gold standard for detecting genetic alterations that is more than 10 MB in size. FISH is a molecular cytogenetic method, in which commercially single stranded DNA with fluorochrome is sampled and the fluorescence microscope visualizes hybridization [21,22].…”