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14q32 duplication syndrome

MedGen UID:
896239
•Concept ID:
C4225449
•
Disease or Syndrome
Synonyms: Chromosome 14q32 duplication syndrome, 700-kb; Myeloproliferative neoplasms, familial, susceptibility to
SNOMED CT: 14q32 duplication syndrome (1234830005); Trisomy 14q32 (1234830005); Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication (1234830005)
 
Monarch Initiative: MONDO:0014707
OMIM®: 616604
Orphanet: ORPHA488280

Definition

A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukaemia, chronic myelomonocytic leukaemia and myeloproliferative neoplasms especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukaemia can be observed. [from SNOMEDCT_US]

Clinical features

From HPO
Acute myeloid leukemia
MedGen UID:
9730
•Concept ID:
C0023467
•
Neoplastic Process
A clonal expansion of myeloid blasts in the bone marrow, blood or other tissues. The classification of acute myeloid leukemias (AMLs) encompasses four major categories: 1) AML with recurrent genetic abnormalities; 2) AML with multilineage dysplasia; 3) Therapy-related AML; 4) AML not otherwise specified. The required bone marrow or peripheral blood blast percentage for the diagnosis of AML is 20% (WHO classification)
See: Feature record | Search on this feature
Chronic myelomonocytic leukemia
MedGen UID:
44125
•Concept ID:
C0023480
•
Neoplastic Process
A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.
See: Feature record | Search on this feature
Myelofibrosis
MedGen UID:
10146
•Concept ID:
C0026987
•
Neoplastic Process
Replacement of bone marrow by fibrous tissue.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV14q32 duplication syndrome

Professional guidelines

PubMed

Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints.
Chen CP, Chang YL, Chern SR, Wu PS, Su JW, Chen WL, Chen LF, Wang W
Gene 2013 Mar 1;516(1):132-7. Epub 2012 Dec 22 doi: 10.1016/j.gene.2012.12.052. PMID: 23266805

Recent clinical studies

Etiology

Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms.
Pegliasco J, Hirsch P, Marzac C, Isnard F, Meniane JC, Deswarte C, Pellet P, Lemaitre C, Leroy G, Rabadan Moraes G, Guermouche H, Schmaltz-Panneau B, Pasquier F, Colas C, Benusiglio PR, Bera O, Bourhis JH, Brissot E, Caron O, Chraibi S, Cony-Makhoul P, Delaunay-Darivon C, Lapusan S, de Fontbrune FS, Fuseau P, Najman A, Vainchenker W, Delhommeau F, Micol JB, Plo I, Bellanné-Chantelot C
Leukemia 2022 Jan;36(1):126-137. Epub 2021 Jun 25 doi: 10.1038/s41375-021-01319-w. PMID: 34172895
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.
Canton APM, Krepischi ACV, Montenegro LR, Costa S, Rosenberg C, Steunou V, Sobrier ML, Santana L, Honjo RS, Kim CA, de Zegher F, Idkowiak J, Gilligan LC, Arlt W, Funari MFA, Jorge AAL, Mendonca BB, Netchine I, Brito VN, Latronico AC
Hum Reprod 2021 Jan 25;36(2):506-518. doi: 10.1093/humrep/deaa306. PMID: 33313884
Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) inherited from her mosaic sSMC(15) mother and a literature review.
Sun ML, Zhang HG, Liu XY, Yue FG, Jiang YT, Li SB, Liu RZ
Taiwan J Obstet Gynecol 2020 Nov;59(6):963-967. doi: 10.1016/j.tjog.2020.09.030. PMID: 33218423
NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features.
Sachwitz J, Meyer R, Fekete G, Spranger S, Matulevičienė A, Kučinskas V, Bach A, Luczay A, Brüchle NO, Eggermann K, Zerres K, Elbracht M, Eggermann T
Clin Genet 2017 Jan;91(1):73-78. Epub 2016 Jun 30 doi: 10.1111/cge.12803. PMID: 27172843
No evidence for additional imprinting defects in Silver-Russell syndrome patients with maternal uniparental disomy 7 or 11p15 epimutation.
Schönherr N, Meyer E, Binder G, Wollmann HA, Eggermann T
J Pediatr Endocrinol Metab 2007 Dec;20(12):1329-31. doi: 10.1515/jpem.2007.20.12.1329. PMID: 18341093

Diagnosis

Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) inherited from her mosaic sSMC(15) mother and a literature review.
Sun ML, Zhang HG, Liu XY, Yue FG, Jiang YT, Li SB, Liu RZ
Taiwan J Obstet Gynecol 2020 Nov;59(6):963-967. doi: 10.1016/j.tjog.2020.09.030. PMID: 33218423
NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features.
Sachwitz J, Meyer R, Fekete G, Spranger S, Matulevičienė A, Kučinskas V, Bach A, Luczay A, Brüchle NO, Eggermann K, Zerres K, Elbracht M, Eggermann T
Clin Genet 2017 Jan;91(1):73-78. Epub 2016 Jun 30 doi: 10.1111/cge.12803. PMID: 27172843
West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14.
Tohyama J, Yamamoto T, Hosoki K, Nagasaki K, Akasaka N, Ohashi T, Kobayashi Y, Saitoh S
Am J Med Genet A 2011 Oct;155A(10):2584-8. Epub 2011 Sep 9 doi: 10.1002/ajmg.a.34224. PMID: 21910242
A deletion 13q34/duplication 14q32.2-14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemia.
Pallister PD, Pallister AB, South S, Toydemir R, Johnson JP, Beischel L, Opitz JM
Am J Med Genet A 2011 Apr;155A(4):833-9. Epub 2011 Mar 15 doi: 10.1002/ajmg.a.33876. PMID: 21595000
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats.
Béna F, Gimelli S, Migliavacca E, Brun-Druc N, Buiting K, Antonarakis SE, Sharp AJ
Hum Mol Genet 2010 May 15;19(10):1967-73. Epub 2010 Feb 23 doi: 10.1093/hmg/ddq075. PMID: 20179077

Therapy

Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.
Canton APM, Krepischi ACV, Montenegro LR, Costa S, Rosenberg C, Steunou V, Sobrier ML, Santana L, Honjo RS, Kim CA, de Zegher F, Idkowiak J, Gilligan LC, Arlt W, Funari MFA, Jorge AAL, Mendonca BB, Netchine I, Brito VN, Latronico AC
Hum Reprod 2021 Jan 25;36(2):506-518. doi: 10.1093/humrep/deaa306. PMID: 33313884

Prognosis

Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms.
Pegliasco J, Hirsch P, Marzac C, Isnard F, Meniane JC, Deswarte C, Pellet P, Lemaitre C, Leroy G, Rabadan Moraes G, Guermouche H, Schmaltz-Panneau B, Pasquier F, Colas C, Benusiglio PR, Bera O, Bourhis JH, Brissot E, Caron O, Chraibi S, Cony-Makhoul P, Delaunay-Darivon C, Lapusan S, de Fontbrune FS, Fuseau P, Najman A, Vainchenker W, Delhommeau F, Micol JB, Plo I, Bellanné-Chantelot C
Leukemia 2022 Jan;36(1):126-137. Epub 2021 Jun 25 doi: 10.1038/s41375-021-01319-w. PMID: 34172895
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats.
Béna F, Gimelli S, Migliavacca E, Brun-Druc N, Buiting K, Antonarakis SE, Sharp AJ
Hum Mol Genet 2010 May 15;19(10):1967-73. Epub 2010 Feb 23 doi: 10.1093/hmg/ddq075. PMID: 20179077

Clinical prediction guides

Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping.
Brakta S, Hawkins ZA, Sahajpal N, Seman N, Kira D, Chorich LP, Kim HG, Xu H, Phillips JA 3rd, Kolhe R, Layman LC
Hum Genet 2023 Apr;142(4):483-494. Epub 2023 Feb 17 doi: 10.1007/s00439-023-02522-8. PMID: 36797380
Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) inherited from her mosaic sSMC(15) mother and a literature review.
Sun ML, Zhang HG, Liu XY, Yue FG, Jiang YT, Li SB, Liu RZ
Taiwan J Obstet Gynecol 2020 Nov;59(6):963-967. doi: 10.1016/j.tjog.2020.09.030. PMID: 33218423
Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage.
Lee C, Kang EY, Gandal MJ, Eskin E, Geschwind DH
Nat Neurosci 2019 Sep;22(9):1521-1532. Epub 2019 Aug 26 doi: 10.1038/s41593-019-0461-9. PMID: 31455884Free PMC Article
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats.
Béna F, Gimelli S, Migliavacca E, Brun-Druc N, Buiting K, Antonarakis SE, Sharp AJ
Hum Mol Genet 2010 May 15;19(10):1967-73. Epub 2010 Feb 23 doi: 10.1093/hmg/ddq075. PMID: 20179077
Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation.
Thauvin-Robinet C, Callier P, Laurent N, Rousseau T, Masurel-Paulet A, Marle N, Huet F, Sagot P, Faivre L, Mugneret F
Prenat Diagn 2007 Jun;27(6):555-9. doi: 10.1002/pd.1724. PMID: 17385797

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