Clinical, hematological and cytogenetic profile in fibroblast growth factor receptor 1 rearranged hematoloymphoid malignancies

Authors

  • Dhanlaxmi Shetty Department of Cancer Cytogenetics, Advanced Centre for Treatment, Research and Education in Cancer, Tata Memorial Centre, Kharghar, Navi Mumbai, Maharashtra, India
  • Elizabeth Talker Department of Cancer Cytogenetics, Advanced Centre for Treatment, Research and Education in Cancer, Tata Memorial Centre, Kharghar, Navi Mumbai, Maharashtra, India
  • Purvi Mohanty Department of Cancer Cytogenetics, Advanced Centre for Treatment, Research and Education in Cancer, Tata Memorial Centre, Kharghar, Navi Mumbai, Maharashtra, India
  • Hemani Jain Department of Cancer Cytogenetics, Advanced Centre for Treatment, Research and Education in Cancer, Tata Memorial Centre, Kharghar, Navi Mumbai, Maharashtra, India
  • Anil Kumar Yadav Department of Cancer Cytogenetics, Advanced Centre for Treatment, Research and Education in Cancer, Tata Memorial Centre, Kharghar, Navi Mumbai, Maharashtra, India
  • Hasmukh Jain Department of Medical Oncology, Tata Memorial Hospital, Parel, Mumbai, Maharashtra, India
  • Lingaraj Nayak Department of Medical Oncology, Tata Memorial Hospital, Parel, Mumbai, Maharashtra, India
  • Prashant Tembare Department of Hematopathology, Advanced Centre for Treatment Research and Education in Cancer, Tata Memorial Centre, Kharghar, Navi Mumbai, Maharashtra, India
  • Nikhil Patkar Department of Hematopathology, Advanced Centre for Treatment Research and Education in Cancer, Tata Memorial Centre, Kharghar, Navi Mumbai, Maharashtra, India
  • P. G. Subramanian Department of Hematopathology, Advanced Centre for Treatment Research and Education in Cancer, Tata Memorial Centre, Kharghar, Navi Mumbai, Maharashtra, India
  • Amit Kumar Department of Medical Oncology, Tata Memorial Hospital, Parel, Mumbai, Maharashtra, India

DOI:

https://doi.org/10.18203/2320-6012.ijrms20201359

Keywords:

CNTRL gene codes for the protein centriolin, Fibroblast growth factor receptor 1, Mixed phenotype acute leukemia, T-lymphoblastic lymphoma, Zinc ginger MYM-type protein 2

Abstract

The background of this study is FGFR1 belongs to a family of four, high-affinity receptor tyrosine kinase and is a legitimate oncogene associated with uterine, cervical, prostate, bladder, colorectal and lung cancers. It is rarely concomitant in myeloid and lymphoid neoplasms but has an aggressive clinical course with a high mortality rate when present. Cytogenetic abnormalities involving the FGFR1 gene is most frequently observed in AML, MPN with eosinophilia, T-ALL and T-LBL with ZMYM2 gene being the most common fusion partner. Methods of this study was to authors report a series of 4 cases with FGFR1 rearrangements. Results is three patients presented as T-cell Lymphoblastic lymphoma (T-LBL) and one as mixed phenotype acute leukemia (MPAL). The T-LBL cases harboured the FGFR1/ ZMYM2 fusion and the MPAL case harbored the CNTRL/FGFR1 fusion as identified by conventional cytogenetics and confirmed by molecular studies. Conclusion is authors herewith describe the clinical, biochemical, molecular and cytogenetic features observed in these cases.

References

Bain B, Gilliland P, Horny H, Vardiman J. Myeloid and Lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1. Eds. Swerdlow S, Campo E, Harris NL, Jaffe E, Pileri S, Stein H, et al. World Health Organization classification of hematopoietic and lymphoid tissues. 4th ed. Lyon, France: IARC Press; 2016:67-74.

Bain B. Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1. Haematologica. 2010;95(5):696-8.

Patel R, Sheehan A, Finch C, Lopez-Terrada D, Hernandez V, Curry C. Fine –needle aspiration cytology of T-lymphoblastic lymphoma associated FGFR1 rearrangement Myeloproliferative Neoplasm. Diagn Cytopath. 2017;42(1):45-8.

Rosati R, La Starza R, Veronese A, Aventin A, Schwienbacher C, Vallespi T et al. NUP98 is fused to the NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15). Blood. 2010;99(10):3857-60.

Umino K, Fujiwara S, Ikeda T, Toda Y, Ito S, Mashima K et al. Clinical outcomes of myeloid/lymphoid neoplasms with fibroblast growth factor receptor-1 (FGFR1) rearrangement. Hematology. 2018;23(8):470-7.

Heim S, Mitelman F. Cancer Cytogenetics- Chromosomal and molecular genetic aberrations of tumour cells. 4th ed. West Sussex, UK: Wiley Blackwell; 2015: 175-197.

Kumar K, Chen W, Koduru P, Luu H. Myeloid and lymphoid neoplasm with abnormalities of FGFR1 presenting with trilineage blasts and RUNX1 rearrangement. Am J Clin Pathol. 2015;143:738-48.

Vega F, Medeiros J, Bueso-Ramos C, Arboleda P, Miranda R. Hematolymphoid neoplasms associated with rearrangements of PDGFRA, PDGFRB, and FGFR1. Am J Clin Pathol. 2015;144:377-92.

Patnaik M, Ketterling R, Tefferi A. FGFR1 rearranged hematological neoplasms- molecularly defined and clinically heterogenous. Leukemia Lymphoma. 2018;59(7):1520-2.

McGowan-Jordan J, Simons A, Schmid M. An international system for human cytogenomic nomenclature (ISCN). Basel, Switzerland: Karger publisher; 2016.

Verstovsek S, Subbiah V, Masarova L, CameronYin C, Tang G, Manshouri T et al. Treatment of the myeloid/lymphoid neoplasm with FGFR1 rearrangement with FGFR1 inhibitor. Ann Oncol. 2018;29(8):1880-2.

Wang Y, Wu X, Deng J, Yu H, Xu R, Zhu Z et al. Diagnostic application of next-generation sequencing in ZMYM2-FGFR1 8p11 myeloproliferative syndrome: A case report. Cancer Biol Ther. 2016;17(8):785-9.

Inhorn RC, Aster JC, Roach SA, Slapak CA, Soiffer R, Tantravahi R et al. Asyndrome of lymphoblastic lymphoma, eosinophilia, and myeloid hyperplasia/malignancy associated with t(8;13) (p11;p11): Description of a distinctive clinicopathologic entity. Blood 1995;85:1881-7.

Jackson C, Medeiros J, Miranda N. 8p11 myeloproliferative syndrome: a review. Hum Pathol. 2010;41(4):461-76.

Sobhani N, Ianza A, D’Angelo A, Roviello G, Giudici F, Bortul M et al. Current status of fibroblast growth factor receptor-targeted therapies in breast cancer. Cells. 2018;7(7):76-89.

Macdonald D, Reiter A, Cross C. The 8p11 myeloproliferative syndrome: a distinct clinical entity caused by constitutive activation of FGFR1. Acta Haematol. 2002;107(2):101-7.

Downloads

Published

2020-03-26

How to Cite

Shetty, D., Talker, E., Mohanty, P., Jain, H., Yadav, A. K., Jain, H., Nayak, L., Tembare, P., Patkar, N., Subramanian, P. G., & Kumar, A. (2020). Clinical, hematological and cytogenetic profile in fibroblast growth factor receptor 1 rearranged hematoloymphoid malignancies. International Journal of Research in Medical Sciences, 8(4), 1556–1563. https://doi.org/10.18203/2320-6012.ijrms20201359

Issue

Section

Case Reports