Myeloid/lymphoid Neoplasm Associated With Fgfr1 Rearrangement

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement is a rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring translocations or insertions involving the chromosome band 8p11 and the FGFR1 gene, in the blood, bone marrow and often other tissues as well (spleen, liver, lymph nodes, breast, etc.). It usually presents as myeloproliferative neoplasm with eosinophilia, T lymphoblastic lymphoma with eosinophilia or, less frequently, acute myeloid leukemia. The presenting signs and symptoms include eosinophilia, leukocytosis with leukemoid reaction, monocytosis, fatigue, sweating, weight loss, lymphadenopathy, splenomegaly and/or hepatomegaly. Extranodal involvement may include the tonsils, lungs and breasts.

Genes related to Myeloid/lymphoid Neoplasm Associated With Fgfr1 Rearrangement

FGFR1

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Clinical Features

Phenotypes and symptoms related to Myeloid/lymphoid Neoplasm Associated With Fgfr1 Rearrangement

Leukemia
Lymphoma
Eosinophilia
Myeloid leukemia
Acute myeloid leukemia
Acute leukemia
Extramedullary hematopoiesis
Myeloproliferative disorder

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Myeloid/lymphoid Neoplasm Associated With Fgfr1 Rearrangement Is also known as 8p11 myeloproliferative syndrome, scll, stem cell leukemia/lymphoma.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Myeloid/lymphoid Neoplasm Associated With Fgfr1 Rearrangement Recommended genes panels

Panel Name, Specifity and genes Tested/covered
FGFR1 DNA Sequencing Test. By Athena Diagnostics Inc (United States). FGFR1 Specificity 100 % Genes 100 %
Normosmic Kallmann/IHH Evaluation. By Athena Diagnostics Inc (United States). TACR3, PROKR2, PROK2, FGFR1, GNRH1, GNRHR, KISS1R Specificity 15 % Genes 100 %
Anosmic Kallmann/IHH Evaluation. By Athena Diagnostics Inc (United States). PROKR2, PROK2, FGF8, FGFR1, GNRHR, KISS1R, ANOS1 Specificity 15 % Genes 100 %
Complete Kallmann/IHH Evaluation. By Athena Diagnostics Inc (United States). TACR3, PROKR2, PROK2, CHD7, FGF8, FGFR1, GNRH1, GNRHR, KISS1R, ANOS1 Specificity 10 % Genes 100 %
Hearing Loss Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc (United States). BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...) View the complete list with 149 more genes Panel complete gene list BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ACTB, ESPN, CLIC5, BDP1, CDH23, CABP2, RIPOR2, CACNA1D, ACTG1, PCDH15, P2RX2, DIAPH3, ANKH, OSBPL2, ABHD12, STRC, CD151, CD164, USH1G, WHRN, OTOA, NLRP3, SLC4A11, BSND, TMC1, TRIOBP, LARS2, CDC14A, CHSY1, ADGRV1, HOMER2, CCDC50, DCDC2, GIPC3, SLC17A8, POLR1C, CLDN14, POLR1D, CHD7, CLPP, LHFPL5, EPS8L2, DIABLO, COCH, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, PNPT1, ADCY1, MYH14, SLITRK6, CRYM, CISD2, CIB2, LRTOMT, ELMOD3, PDZD7, NARS2, MARVELD2, LOXHD1, SYNE4, TPRN, OTOGL, TMEM132E, GRHL2, GSDME, ILDR1, DIAPH1, DLX5, TBC1D24, CEMIP, PJVK, DNMT1, DSPP, TMIE, MIR96, GRXCR1, S1PR2, EDN3, EDNRA, EDNRB, CEACAM16, GRXCR2, EPS8, ERCC2, ERCC3, ESRRB, EYA1, EYA4, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, GATA3, ALMS1, GJB2, GJB6, HARS2, HGF, HOXB1, HSD17B4, TNC, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, MANBA, MCM2, MET, MT-TS1, MT-TS2, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NDP, NR2F1, OPA1, ATP2B2, OTOF, OTOG, ATP6V1B1, ATP6V1B2, PAX3, AIFM1, SLC26A4, PEX1, PEX6, SERPINB6, PMP22, POU3F4, POU4F3, SLC26A5, PRPS1, PTPRQ, RDX Specificity 1 % Genes 100 %
NGS Craniosynostosis Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). TWIST1, RAB23, FGFR1, FGFR2, MSX2, POR, RECQL4 Specificity 15 % Genes 100 %
FGFR1-Related Disorders - FGFR1 Sequencing. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States). FGFR1 Specificity 100 % Genes 100 %
FGFR1-Related Disorders - Del/Dup Analysis. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States). FGFR1 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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