Open AccessIdentification 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
Author(s) -
Man Gao,
Shibo Li,
Lina Wang,
Shu Nie,
Pei Hui,
Xin Lu,
Xianfu Wang,
Mingwei Wang,
Shirong Guo,
Yuhan Ma,
Fanzheng Meng
Publication year - 2020
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000022789
Subject(s) - medicine , fluorescence in situ hybridization , in situ hybridization , comparative genomic hybridization , myeloid leukemia , identification (biology) , in situ , hybridization probe , computational biology , microbiology and biotechnology , genetics , cancer research , biology , dna , gene , genome , botany , chromosome , gene expression , physics , meteorology
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.