Clinical significance of newly emerged isolated del(20q) in patients following cytotoxic therapies

C. Cameron Yin, Jie Peng, Yu Li, Rashmi K. Shamanna, Tariq Muzzafar, Courtney Dinardo, Joseph D. Khoury, Shaoying Li, L. Jeffrey Medeiros, Sa A. Wang, Guilin Tang

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19 Scopus citations


Deletion 20q is a common chromosomal abnormality in myeloid neoplasms. Detection of del(20q) in patients following cytotoxic therapies raises concerns for an emerging therapy-related myeloid neoplasm. In this study, we identified 92 patients who acquired isolated del(20q) in their bone marrow following cytotoxic therapies for malignant neoplasms. Seventy-six patients showed interstitial and sixteen patients showed terminal 20q deletion. The median interval from prior cytotoxic therapies to detection of del(20q) was 58 months (range, 5-213 months). With a median follow-up of 23 months (range, 1-183 months), 21 (23%) patients developed therapy-related myeloid neoplasm and 71 (77%) patients did not. In patients who developed therapy-related myeloid neoplasm, del(20q) presented in a higher percentage of metaphases (60 vs 25%, P<0.0001); persisted for a longer period of time (24 vs 10 months, P=0.0487); and was more often a terminal deletion (33 vs 13%, P=0.0006) compared with patients who did not develop therapy-related myeloid neoplasm. Clonal evolution was only detected in patients with therapy-related myeloid neoplasm (4 patients, 19%). We conclude that del(20q) emerging after cytotoxic therapy represents an innocuous finding in more than two-thirds of patients. In patients who develop a therapy-related myeloid neoplasm, del(20q) often involves a higher percentage of metaphases, persists longer and more frequently is a terminal rather than an interstitial deletion.

Original languageEnglish (US)
Pages (from-to)1014-1022
Number of pages9
JournalModern Pathology
Issue number8
StatePublished - Aug 1 2015
Externally publishedYes

ASJC Scopus subject areas

  • General Medicine


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