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Most Myeloid Neoplasms With Deletion of Chromosome 16q Are Distinct From Acute Myeloid Leukemia With
Heesun J Rogers1, Eric D Hsi1, Guilin Tang2
1From the Department of Laboratory Medicine, Cleveland Clinic, Cleveland, OH.
Objectives:
Isolated deletion of the long arm of chromosome 16 (del(16q)) is rare in myeloid neoplasms (MNs) and was historically considered a variant of inv(16)(p13.1q22) (inv(16)), a subtype of acute myeloid leukemia (AML) associated with CBFB-MYH11 rearrangement and favorable prognosis. This study aims to determine clinicopathologic characteristics of patients with isolated del(16q) in MNs in comparison to AMLs with isolated inv(16).
Methods:
Clinicopathologic features were retrospectively reviewed in 18 MNs with del(16q) and 34 AMLs with inv(16) patients from seven institutions.
Results:
MNs with del(16q) occurred in elderly patients, often as secondary MNs. Blood monocytes and marrow eosinophils were lower in del(16q) than inv(16). Deletion of CBFB but not CBFB-MYH11 rearrangement was confirmed by fluorescence in situ hybridization or reverse transcription polymerase chain reaction in 14 of 14 del(16q) patients. The median overall survival was shorter in del(16q) than in inv(16) patients (12 vs 94 months, log rank P = .0002).
Conclusions:
Myeloid neoplasms with isolated del(16q) with deletion of the CBFB but lacking CBFB-MYH11 rearrangement should not be considered a variant of the AML-defining inv(16).
Insights
Isolated deletion of chromosome 16q in myeloid neoplasms is distinct from inv(16) AML. This rare condition affects older patients and has a poorer prognosis, lacking the CBFB-MYH11 rearrangement.
Area of Science:
- Hematology
- Cytogenetics
- Oncology
Background:
- Isolated deletion of chromosome 16 long arm (del(16q)) is a rare finding in myeloid neoplasms (MNs).
- Historically, del(16q) was considered a variant of inv(16)(p13.1q22), a subtype of acute myeloid leukemia (AML) with a favorable prognosis due to CBFB-MYH11 rearrangement.
Purpose of the Study:
- To investigate the clinicopathologic characteristics of MNs with isolated del(16q).
- To compare these features with AMLs exhibiting isolated inv(16).
Main Methods:
- Retrospective review of clinicopathologic data from 18 MNs with del(16q) and 34 AMLs with inv(16) across seven institutions.
- Fluorescence in situ hybridization (FISH) and reverse transcription polymerase chain reaction (RT-PCR) were used to confirm genetic alterations.
Main Results:
- MNs with del(16q) were observed in elderly patients, frequently as secondary malignancies.
- Patients with del(16q) showed lower blood monocyte and marrow eosinophil counts compared to inv(16) cases.
- All tested del(16q) patients had CBFB deletion but lacked the CBFB-MYH11 rearrangement.
- The median overall survival was significantly shorter for del(16q) (12 months) versus inv(16) (94 months) (P = .0002).
Conclusions:
- Myeloid neoplasms with isolated del(16q) and CBFB deletion, but without CBFB-MYH11 rearrangement, represent a distinct entity.
- These findings support classifying isolated del(16q) separately from the AML-defining inv(16).