Myeloid/lymphoid Neoplasm Associated With Fgfr1 Rearrangement

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.

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.


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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
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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