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inv(18)(p11q21)

Written2008-06Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1545
Note The anomaly is found in heterogeneous diseases, but the cases present some surprisingly similar cytogenetic features.

Clinics and Pathology

Disease Myelodysplastic syndrome and non Hodgkin lymphoma.
Epidemiology Four cases are available to date: an indolent B-cell follicular lymphoma, a non Hodgkin lymphoma (NHL) not otherwise specified (NOS), a refractory anemia (RA) possibly related to the treatment of a multiple myeloma diagnosed 4 years before, and a refractory anemia with excess of blasts in transformation (RAEB-t) evolving rapidly towards an acute myeloid leukemia (AML). There were 2 male and 2 female patients, aged 70, 70, 76 and ? (Fan et al., 1988; Avanzi et al., 1989; Fan and Rizkalla, 2003; Adeyinka et al., 2007).
Prognosis Data on (short term) evolution is only available in the two myeloid cases: the RA case remained well 4 months after diagnosis, while the RAEB-t/AML case died shortly after diagnosis.

Cytogenetics

Cytogenetics Morphological The four karyotypes were complex; four of four patients also had -5/del(5q), two patients had +6 (the NHL-NOS and the RA cases), and one had +i(6)(p10) (the follicular NHL case), two had complete or partial deletion of 17p (the NHL-NOS and the RAEB-t/AML cases), four of four cases presented whole arm translocations: der(1;15)(q10;q10) (the NHL-NOS case), i(6)(p10) (the follicular NHL case), dic(14;14)(p11;p11) (the RA case), i(17)(q10) (the RAEB-t/AML case).

Genes involved and Proteins

Note Genes involved in this structural anomaly are unknown.

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.

Bibliography

Loss of 17p is a major consequence of whole-arm chromosome translocations in hematologic malignancies.
Adeyinka A, Wei S, Sanchez J.
Cancer Genet Cytogenet. 2007 Mar;173(2):136-43.
PMID 17321329
 
Trisomy 11 in myelodysplastic syndrome-derived acute myeloblastic leukaemias.
Avanzi GC, Giovinazzo B, Rosso A, Depaoli L, Bertini M, Resegotti L, Pegoraro L.
Eur J Haematol. 1989 Aug;43(2):173-7.
PMID 2792325
 
An acquired Robertsonian translocation dic(14;14)(p11;p11) in a patient with a myelodysplastic syndrome following treatment of multiple myeloma.
Fan YS, Baer MR, Sait SN, Dal Cin P, Prentice TC, Preisler HD, Sandberg AA.
Cancer Genet Cytogenet. 1988 Jan;30(1):133-7.
PMID 3422038
 
Comprehensive cytogenetic analysis including multicolor spectral karyotyping and interphase fluorescence in situ hybridization in lymphoma diagnosis. a summary of 154 cases.
Fan YS, Rizkalla K.
Cancer Genet Cytogenet. 2003 May;143(1):73-9.
PMID 12742158
 

Citation

This paper should be referenced as such :
Huret, JL
inv(18)(p11q21)
Atlas Genet Cytogenet Oncol Haematol. 2009;13(6):436-436.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/inv18p11q21ID1545.html


Translocations implicated (Data extracted from papers in the Atlas)

 inv(18)(p11q21)

External links

Mitelman databaseinv(18)(p11q21) [Case List]    inv(18)(p11q21) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaseinv(18)(p11q21)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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indexed on : Mon Sep 18 17:18:46 CEST 2017


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