t(15; 17) associated with primary myelofibrosis: a case report of an unusual clinical presentation and diagnostic dilemma

Kalyan Nadiminti; Margarida Silverman; Sharathkumar Bhagavathi; Praveen Vikas

doi:10.2147/OTT.S208290

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t(15; 17) associated with primary myelofibrosis: a case report of an unusual clinical presentation and diagnostic dilemma

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t(15; 17) associated with primary myelofibrosis: a case report of an unusual clinical presentation and diagnostic dilemma

Kalyan Nadiminti, Margarida Silverman, Sharathkumar Bhagavathi and Praveen Vikas

OncoTargets and therapy, Vol.12, pp.5449-5455

2019

DOI: 10.2147/OTT.S208290

PMCID: PMC6633400

PMID: 31371984

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Abstract

Background: primary myelofibrosis (PMF) is a myeloproliferative neoplasm which is associated with clonal molecular and cytogenetic abnormalities (CA) and varied clinical manifestations. While various CA have been previously described, t(15; 17) has not been reported in association with this condition. Case presentation: A 69-year-old male presented with constitutional symptoms, cytopenias and bone marrow biopsy revealed immature blasts with fibrosis. Cytogenetic analysis showed a t(15;17) which initially suggested a diagnosis of acute promyelocytic leukemia (APL). However, flourescence in situ hybridization (FISH) and reverse transcriptase polymerase chain reaction (RT-PCR) studies were negative for transcripts promyelocytic leukemia (PML) gene and retinoic acid receptor alpha (RARA) or PML-RARA fusion. Along with these results, a second review of bone marrow histology, flowcytometry and the detection of a calreticulin gene (CALR) mutation helped with the correct diagnosis of PMF. Patient was then treated with ruxolitinib, a JAK (Janus kinase) 1 and 2 inhibitor, and eventually proceeded to receive a matched unrelated reduced intensity conditioning (RIC) allogeneic stem cell transplantation (ASCT) and has been doing well at the 6-month follow up. Conclusions: Our case highlights two points, that the t(15;17) is diagnostic of Acute Promyelocytic Leukemia (APL) in most cases, there are exceptions and it can be associated with other malignancies without causing any APL like features, as noted in this case. Also, that t(15; 17) by itself is never sufficient to diagnose APL without confirmation by other methods and relying solely on cytogenetics without timely confirmatory tests can lead to risks of delay in diagnosis and appropriate management. Keywords: FISH; atypical t(15;17); case report; cytogenetics; primary myelofibrosis.

Cytogenetics

atypical t(15;17)

Case Report

FISH

primary myelofibrosis

Details

Title: Subtitle: t(15; 17) associated with primary myelofibrosis: a case report of an unusual clinical presentation and diagnostic dilemma
Creators: Kalyan Nadiminti - University of Iowa
Margarida Silverman - University of Iowa
Sharathkumar Bhagavathi - University of Iowa Hospitals and Clinics
Praveen Vikas - University of Iowa
Resource Type: Journal article
Publication Details: OncoTargets and therapy, Vol.12, pp.5449-5455
DOI: 10.2147/OTT.S208290
PMID: 31371984
PMCID: PMC6633400
NLM abbreviation: Onco Targets Ther
ISSN: 1178-6930
eISSN: 1178-6930
Publisher: Dove
Alternative title: Nadiminti et al
Language: English
Date published: 2019
Academic Unit: Hematology, Oncology, and Blood & Marrow Transplantation; Pathology; Internal Medicine
Record Identifier: 9984185173702771

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