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Myeloid neoplasm associated with FGFR1 rearrangement(SCLL)

MedGen UID:
462123
Concept ID:
C3150773
Neoplastic Process
Synonyms: Chromosome 8p11 myeloproliferative syndrome; STEM CELL LEUKEMIA/LYMPHOMA
SNOMED CT: Myeloid and lymphoid neoplasm with fibroblast growth factor receptor 1 abnormality (721301004); Myeloid and lymphoid neoplasm with FGFR1 abnormality (721301004); Myeloid/lymphoid neoplasm with FGFR1 rearrangement (450942006); Myeloid/lymphoid neoplasm with fibroblast growth factor receptor 1 abnormality (450942006); Myeloid-lymphoid neoplasm with FGFR1 rearrangement (450942006)
 
Monarch Initiative: MONDO:0013296
OMIM®: 613523
Orphanet: ORPHA168953

Definition

The 8p11 myeloproliferative syndrome is a rare aggressive condition characterized in its typical form by the occurrence, either simultaneously or sequentially, of a BCR/ABL-negative myeloproliferative disorder and a lymphoma, usually a precursor T-lymphoblastic lymphoma. The disease most often terminates in acute myeloid leukemia (Goradia et al., 2008). [from OMIM]

Additional description

From MedlinePlus Genetics
8p11 myeloproliferative syndrome is a blood cancer that involves different types of blood cells. Blood cells are divided into several groups (lineages) based on the type of early cell from which they are descended. Two of these lineages are myeloid cells and lymphoid cells. Individuals with 8p11 myeloproliferative syndrome can develop both myeloid cell cancer and lymphoid cell cancer.

The condition can occur at any age. It usually begins as a myeloproliferative disorder, which is characterized by a high number of white blood cells (leukocytes). Most affected individuals also have an excess of myeloid cells known as eosinophils (eosinophilia).

In addition to a myeloproliferative disorder, many people with 8p11 myeloproliferative syndrome develop lymphoma, which is a form of blood cancer that involves lymphoid cells. The cancerous lymphoid cells grow and divide in lymph nodes, forming a tumor that enlarges the lymph nodes. In most cases of 8p11 myeloproliferative syndrome, the cancerous cells are lymphoid cells called T cells. Lymphoma can develop at the same time as the myeloproliferative disorder or later.

In most people with 8p11 myeloproliferative syndrome, the myeloproliferative disorder develops into a fast-growing blood cancer called acute myeloid leukemia.

The rapid myeloid and lymphoid cell production caused by these cancers results in enlargement of the spleen and liver (splenomegaly and hepatomegaly, respectively). Most people with 8p11 myeloproliferative syndrome have symptoms such as fatigue or night sweats. Some affected individuals have no symptoms, and the condition is discovered through routine blood tests.  https://medlineplus.gov/genetics/condition/8p11-myeloproliferative-syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyeloid neoplasm associated with FGFR1 rearrangement
Follow this link to review classifications for Myeloid neoplasm associated with FGFR1 rearrangement in Orphanet.

Professional guidelines

Recent clinical studies

Etiology

Tang G, Tam W, Short NJ, Bose P, Wu D, Hurwitz SN, Bagg A, Rogers HJ, Hsi ED, Quesada AE, Wang W, Miranda RN, Bueso-Ramos CE, Medeiros LJ, Nardi V, Hasserjian RP, Arber DA, Orazi A, Foucar K, Wang SA
Mod Pathol 2021 Sep;34(9):1673-1685. Epub 2021 May 14 doi: 10.1038/s41379-021-00817-7. PMID: 33990705
Shomali W, Gotlib J
Am J Hematol 2019 Oct;94(10):1149-1167. doi: 10.1002/ajh.25617. PMID: 31423623
Gotlib J
Am J Hematol 2017 Nov;92(11):1243-1259. doi: 10.1002/ajh.24880. PMID: 29044676
Reiter A, Gotlib J
Blood 2017 Feb 9;129(6):704-714. Epub 2016 Dec 27 doi: 10.1182/blood-2016-10-695973. PMID: 28028030
Savage N, George TI, Gotlib J
Int J Lab Hematol 2013 Oct;35(5):491-500. Epub 2013 Mar 13 doi: 10.1111/ijlh.12057. PMID: 23489324

Diagnosis

Tzankov A, Reichard KK, Hasserjian RP, Arber DA, Orazi A, Wang SA
Virchows Arch 2023 Jan;482(1):85-97. Epub 2022 Sep 7 doi: 10.1007/s00428-022-03402-8. PMID: 36068374
Shomali W, Gotlib J
Am J Hematol 2019 Oct;94(10):1149-1167. doi: 10.1002/ajh.25617. PMID: 31423623
Strati P, Tang G, Duose DY, Mallampati S, Luthra R, Patel KP, Hussaini M, Mirza AS, Komrokji RS, Oh S, Mascarenhas J, Najfeld V, Subbiah V, Kantarjian H, Garcia-Manero G, Verstovsek S, Daver N
Leuk Lymphoma 2018 Jul;59(7):1672-1676. Epub 2017 Nov 9 doi: 10.1080/10428194.2017.1397663. PMID: 29119847
Reiter A, Gotlib J
Blood 2017 Feb 9;129(6):704-714. Epub 2016 Dec 27 doi: 10.1182/blood-2016-10-695973. PMID: 28028030
Vega F, Medeiros LJ, Bueso-Ramos CE, Arboleda P, Miranda RN
Am J Clin Pathol 2015 Sep;144(3):377-92. doi: 10.1309/AJCPMORR5Z2IKCEM. PMID: 26276769

Therapy

Shomali W, Gotlib J
Am J Hematol 2019 Oct;94(10):1149-1167. doi: 10.1002/ajh.25617. PMID: 31423623
Reiter A, Gotlib J
Blood 2017 Feb 9;129(6):704-714. Epub 2016 Dec 27 doi: 10.1182/blood-2016-10-695973. PMID: 28028030
Gotlib J
Am J Hematol 2015 Nov;90(11):1077-89. doi: 10.1002/ajh.24196. PMID: 26486351
Gotlib J
Am J Hematol 2014 Mar;89(3):325-37. doi: 10.1002/ajh.23664. PMID: 24577808
Lierman E, Cools J
Expert Rev Anticancer Ther 2009 Sep;9(9):1295-304. doi: 10.1586/era.09.82. PMID: 19761433

Prognosis

Shomali W, Gotlib J
Am J Hematol 2019 Oct;94(10):1149-1167. doi: 10.1002/ajh.25617. PMID: 31423623
Umino K, Fujiwara SI, Ikeda T, Toda Y, Ito S, Mashima K, Minakata D, Nakano H, Yamasaki R, Kawasaki Y, Sugimoto M, Yamamoto C, Ashizawa M, Hatano K, Sato K, Oh I, Ohmine K, Muroi K, Kanda Y
Hematology 2018 Sep;23(8):470-477. Epub 2018 Feb 28 doi: 10.1080/10245332.2018.1446279. PMID: 29486661
Strati P, Tang G, Duose DY, Mallampati S, Luthra R, Patel KP, Hussaini M, Mirza AS, Komrokji RS, Oh S, Mascarenhas J, Najfeld V, Subbiah V, Kantarjian H, Garcia-Manero G, Verstovsek S, Daver N
Leuk Lymphoma 2018 Jul;59(7):1672-1676. Epub 2017 Nov 9 doi: 10.1080/10428194.2017.1397663. PMID: 29119847
Reiter A, Gotlib J
Blood 2017 Feb 9;129(6):704-714. Epub 2016 Dec 27 doi: 10.1182/blood-2016-10-695973. PMID: 28028030
Savage N, George TI, Gotlib J
Int J Lab Hematol 2013 Oct;35(5):491-500. Epub 2013 Mar 13 doi: 10.1111/ijlh.12057. PMID: 23489324

Clinical prediction guides

Mojarad BA, Crees ZD, Schroeder MC, Xiang Z, Vader J, Sina J, Jacoby M, Frater JL, Duncavage EJ, Spencer DH, Lavine K, Neidich JA, Amarillo I
Cancer Genet 2024 Jan;280-281:1-5. Epub 2023 Nov 29 doi: 10.1016/j.cancergen.2023.11.001. PMID: 38056049
Tang G, Tam W, Short NJ, Bose P, Wu D, Hurwitz SN, Bagg A, Rogers HJ, Hsi ED, Quesada AE, Wang W, Miranda RN, Bueso-Ramos CE, Medeiros LJ, Nardi V, Hasserjian RP, Arber DA, Orazi A, Foucar K, Wang SA
Mod Pathol 2021 Sep;34(9):1673-1685. Epub 2021 May 14 doi: 10.1038/s41379-021-00817-7. PMID: 33990705
Shallis RM, Siddon AJ, Zeidan AM
Curr Hematol Malig Rep 2021 Jun;16(3):276-285. Epub 2021 Apr 22 doi: 10.1007/s11899-021-00632-6. PMID: 33890194
Strati P, Tang G, Duose DY, Mallampati S, Luthra R, Patel KP, Hussaini M, Mirza AS, Komrokji RS, Oh S, Mascarenhas J, Najfeld V, Subbiah V, Kantarjian H, Garcia-Manero G, Verstovsek S, Daver N
Leuk Lymphoma 2018 Jul;59(7):1672-1676. Epub 2017 Nov 9 doi: 10.1080/10428194.2017.1397663. PMID: 29119847
Reiter A, Gotlib J
Blood 2017 Feb 9;129(6):704-714. Epub 2016 Dec 27 doi: 10.1182/blood-2016-10-695973. PMID: 28028030

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