Incidence and clinical characteristics of myeloproliferative neoplasms displaying a <i><scp>PDGFRB</scp></i> rearrangement

Arefi, Maryam; Garcı́a, Juan Luis; Peñarrubia, María Jesús; Queizán, José Antonio; Hermosín, Lourdes; López-Corral, Lucía; Megido, Marta; Giraldo, Pilar; Heras, Natalia de las; Vanegas, Raúl; Gutiérrez, Norma C.; Hernández‐Rivas, Jesús María

doi:10.1111/j.1600-0609.2012.01799.x

Cited by 45 publications

(37 citation statements)

References 19 publications

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“…1 More than 20 fusion partners have been reported, 2 with a spectrum of morphologic presentations, including atypical chronic myeloid leukemia (CML), primary myelofibrosis, and acute leukemia. 3,4 A recent study found evidence of PDGFRB rearrangements in 10 (1.8%) of 556 consecutive patients with MPN.…”

Section: Introductionmentioning

confidence: 99%

“…3,4 A recent study found evidence of PDGFRB rearrangements in 10 (1.8%) of 556 consecutive patients with MPN. 2 The most common morphologic diagnosis is chronic myelomonocytic leukemia with eosinophilia, associated with t(5;12)(q33;p13), resulting an ETV6-PDGFRB fusion gene (formerly TEL-PDGFRB). 5 Previous publications have detailed the successful use of imatinib, but long-term outcomes remain inadequately described.…”

Section: Introductionmentioning

confidence: 99%

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Patients with myeloid malignancies bearing PDGFRB fusion genes achieve durable long-term remissions with imatinib

Cheah

Burbury

Apperley

et al. 2014

Blood

121

105

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Key Points• Imatinib achieves deep and durable remissions in patients with myeloid neoplasms bearing PDGFRB.• Allogeneic stem cell transplantation is no longer indicated for patients with chronic myeloproliferative neoplasm bearing PDGFRB who respond to imatinib.Myeloid neoplasms and eosinophilia with rearrangements of PDGFRB are uncommon Philadelphia-negative myeloproliferative neoplasms. Patients are typically male, with morphologic features of a Philadelphia-negative chronic myeloproliferative syndrome or chronic myelomonocytic leukemia with eosinophilia. Reciprocal translocations involving PDGFRB result in fusion genes with constitutively activated receptor tyrosine kinase sensitive to inhibition with imatinib. We present an updated and expanded analysis of a cohort of 26 such patients treated with imatinib. After a median follow-up of 10.2 years (range, 1.8-17 years), the 10-year overall survival rate was 90% (95% confidence interval, 64%-97%); after median imatinib duration of 6.6 years (range, 0.1-12 years), the 6-year progression-free survival rate was 88% (95% confidence interval, 65%-96%). Of the patients, 96% responded; no patients who achieved a complete cytogenetic (n 5 13) or molecular (n 5 8) remission lost their response or progressed to blast crisis. Imatinib is well-tolerated and achieves excellent long-term responses in patients with PDGFRB rearrangements. (Blood. 2014;123(23):3574-3577)

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Patients with myeloid malignancies bearing PDGFRB fusion genes achieve durable long-term remissions with imatinib

Cheah

Burbury

Apperley

et al. 2014

Blood

121

105

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“…A study of 556 patients with myeloproliferative neoplasms detected PDGFRB rearrangements in 10 patients (1.8%), all with eosinophilia and all generally showing a complete response to imatinib therapy. 6 After the identification of ETV6(TEL)-PDGFRB in cases of CMML with t(5;12)(q33;p12) in 1994, 7 over 20 PDGFRB fusion partners have emerged.…”

Section: Case 2: Mln Eosinophilia and Novel C6orf204-pdgfrb Fusionmentioning

confidence: 99%

PDGFRB-rearranged T-lymphoblastic leukemia/lymphoma occurring with myeloid neoplasms: the missing link supporting a stem cell origin

et al. 2014

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The 2008 WHO classification scheme of hematolymphoid neoplasms recognizes a category of myeloid and lymphoid neoplasms (MLNs) with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1.1 The postulated cell of origin for PDGFRA or FGFR1-rearranged diseases is a pluripotent progenitor capable of giving rise to myeloid neoplasms (myeloproliferative neoplasms and acute leukemias) and to lymphoblastic leukemia/lymphoma. Historically, PDGFRB translocations have not been associated with malignancies of the lymphoid lineage. Myeloid neoplasms with abnormalities of PDGFRB have been described to have hematologic features of chronic myelomonocytic leukemia (CMML), sometimes with eosinophilia, or as various other myeloproliferative and/or myelodysplastic neoplasms.2 In recognition of this distinction, the classification scheme designates specific categories of "MLNs" with PDGFRA and FGFR1 rearrangement, but omits the word "lymphoid" from the PDGFRBassociated entity.1 To call attention to the rare occurrence of lymphoid and mixed MLNs with abnormalities of PDGFRB, we present the clinical and pathological details of 2 cases. Case 1: MLN, eosinophilia, and RABEP1-PDGFRB fusion.A 64-year old man with splenomegaly and diffuse lymphadenopathy (supraclavicular, axillary, mediastinal, paraaortic, retroperitoneal, pelvic) was diagnosed with T-lymphoblastic lymphoma (T-LBL) on a left cervical lymph node (LN) biopsy. A complete blood count (CBC) showed anemia, thrombocytopenia and mild eosinophilia, but no blasts (Table 1). A staging bone marrow (BM) biopsy was abnormal, demonstrating features of a myeloid neoplasm with mixed myeloproliferative/myelodysplastic features but was not involved by T-LBL (Figure 1). He was treated with a vincristine/prednisone-based induction protocol for T-LBL. Following identification of a t(5;17)(q33;p13) in BM and confirmation of PDGFRB rearrangement in the LN and BM samples, imatinib 400 mg/day was added, but stopped after 18 days due to drug intolerance. Based on prior literature, fluorescence in situ hybridization (FISH) studies were subsequently performed that confirmed RABEP1 as the partner gene (Figure 1).

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“…Более то-го, обнаружение транслокаций 5q31-5q33 с помощью стандарт-ного цитогенетического исследования позволяет идентифици-ровать случаи, которые должны быть классифицированы как миелоидные новообразования с перестройкой PDGFRA или PDGFRB в соответствии с классификацией ВОЗ (версия 2008 г.) [3,43,44].…”

Section: ал меликян и соавтunclassified

Mastocytosis. Review of the literature and description of clinical cases

Меликян¹,

Subortseva²,

Горячева³

et al. 2014

Ter. arkh.

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Incidence and clinical characteristics of myeloproliferative neoplasms displaying a PDGFRB rearrangement

Cited by 45 publications

References 19 publications

Patients with myeloid malignancies bearing PDGFRB fusion genes achieve durable long-term remissions with imatinib

Patients with myeloid malignancies bearing PDGFRB fusion genes achieve durable long-term remissions with imatinib

PDGFRB-rearranged T-lymphoblastic leukemia/lymphoma occurring with myeloid neoplasms: the missing link supporting a stem cell origin

Mastocytosis. Review of the literature and description of clinical cases

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