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Monosomy 13

MedGen UID:
269105
•Concept ID:
C1513478
•
Cell or Molecular Dysfunction

Definition

A chromosomal abnormality consisting of the absence of a copy (homolog) of chromosome 13. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMonosomy 13

Professional guidelines

PubMed

Diagnostic testing after positive results on cell free DNA screening: CVS or Amnio?
Mardy AH, Norton ME
Prenat Diagn 2021 Sep;41(10):1249-1254. Epub 2021 Aug 25 doi: 10.1002/pd.6021. PMID: 34386984
Non-invasive prenatal screening versus prenatal diagnosis by array comparative genomic hybridization: a comparative retrospective study.
Sotiriadis A, Papoulidis I, Siomou E, Papageorgiou E, Eleftheriades M, Papadopoulos V, Alexiou M, Manolakos E, Athanasiadis A
Prenat Diagn 2017 Jun;37(6):583-592. Epub 2017 May 23 doi: 10.1002/pd.5051. PMID: 28406537
Prenatal diagnosis of a case of partial monosomy/monosomy 13 mosaicism: 46,XX,r(13)(p11q33)/45,XX,-13 suspected by nuchal fold translucency increasing.
Kataoka A, Hirakawa S, Iwamoto M, Sakumura Y, Yoshinaga R, Ohba T
Kurume Med J 2011;58(4):127-30. doi: 10.2739/kurumemedj.58.127. PMID: 23047142

Recent clinical studies

Etiology

Pathologic, cytogenetic, and molecular features of acute myeloid leukemia with megakaryocytic differentiation: A report from the Children's Oncology Group.
Chisholm KM, Smith J, Heerema-McKenney AE, Choi JK, Ries RE, Hirsch BA, Raimondi SC, Wang YC, Dang A, Alonzo TA, Sung L, Aplenc R, Gamis AS, Meshinchi S, Kahwash SB
Pediatr Blood Cancer 2023 May;70(5):e30251. Epub 2023 Feb 15 doi: 10.1002/pbc.30251. PMID: 36789545Free PMC Article
In vitro fertilization and preimplantation genetic diagnosis outcomes in mosaic Turner's syndrome: A retrospective cohort study from a single referral center experience.
Acet F, Sahin G, Ucar AAO, Emirdar V, Karaca E, Durmaz B, Goker ENT, Tavmergen E
J Gynecol Obstet Hum Reprod 2022 Sep;51(7):102405. Epub 2022 May 13 doi: 10.1016/j.jogoh.2022.102405. PMID: 35569796
Prognostic significance of acquired 1q22 gain in multiple myeloma.
Audil HY, Cook JM, Greipp PT, Kapoor P, Baughn LB, Dispenzieri A, Gertz MA, Buadi FK, Lacy MQ, Dingli D, Fonder AL, Hayman SR, Hobbs MA, Muchtar E, Siddiqui M, Gonsalves WI, Hwa YL, Leung N, Lin Y, Kourelis TV, Warsame R, Kyle RA, Ketterling RP, Rajkumar SV, Kumar SK
Am J Hematol 2022 Jan 1;97(1):52-59. Epub 2021 Nov 3 doi: 10.1002/ajh.26391. PMID: 34710241
IgM Plasma Cell Myeloma.
Lu H, Durkin L, Zhao X, Nakashima MO
Am J Clin Pathol 2022 Jan 6;157(1):47-53. doi: 10.1093/ajcp/aqab095. PMID: 34508562
Prognostic Implications of Monosomies in Patients With Multiple Myeloma.
Shin SY, Eom HS, Sohn JY, Lee H, Park B, Joo J, Jang JH, Lee MN, Kim JK, Kong SY
Clin Lymphoma Myeloma Leuk 2017 Mar;17(3):159-164.e2. Epub 2016 Dec 26 doi: 10.1016/j.clml.2016.12.001. PMID: 28089441

Diagnosis

In vitro fertilization and preimplantation genetic diagnosis outcomes in mosaic Turner's syndrome: A retrospective cohort study from a single referral center experience.
Acet F, Sahin G, Ucar AAO, Emirdar V, Karaca E, Durmaz B, Goker ENT, Tavmergen E
J Gynecol Obstet Hum Reprod 2022 Sep;51(7):102405. Epub 2022 May 13 doi: 10.1016/j.jogoh.2022.102405. PMID: 35569796
High-grade glioma with pleomorphic and pseudopapillary features (HPAP): a proposed type of circumscribed glioma in adults harboring frequent TP53 mutations and recurrent monosomy 13.
Pratt D, Abdullaev Z, Papanicolau-Sengos A, Ketchum C, Panneer Selvam P, Chung HJ, Lee I, Raffeld M, Gilbert MR, Armstrong TS, Pytel P, Borys E, Klonoski JM, McCord M, Horbinski C, Brat D, Perry A, Solomon D, Eberhart C, Giannini C, Quezado M, Aldape K
Acta Neuropathol 2022 Mar;143(3):403-414. Epub 2022 Feb 1 doi: 10.1007/s00401-022-02404-9. PMID: 35103816Free PMC Article
Prognostic significance of acquired 1q22 gain in multiple myeloma.
Audil HY, Cook JM, Greipp PT, Kapoor P, Baughn LB, Dispenzieri A, Gertz MA, Buadi FK, Lacy MQ, Dingli D, Fonder AL, Hayman SR, Hobbs MA, Muchtar E, Siddiqui M, Gonsalves WI, Hwa YL, Leung N, Lin Y, Kourelis TV, Warsame R, Kyle RA, Ketterling RP, Rajkumar SV, Kumar SK
Am J Hematol 2022 Jan 1;97(1):52-59. Epub 2021 Nov 3 doi: 10.1002/ajh.26391. PMID: 34710241
IgM Plasma Cell Myeloma.
Lu H, Durkin L, Zhao X, Nakashima MO
Am J Clin Pathol 2022 Jan 6;157(1):47-53. doi: 10.1093/ajcp/aqab095. PMID: 34508562
Cytogenetic Abnormalities in Multiple Myeloma Patients at a Tertiary Healthcare Center in India.
Govindasamy P, Pandurangan P, Tarigopula A, Mani R, R Samuel C
Asian Pac J Cancer Prev 2019 Jan 25;20(1):235-241. doi: 10.31557/APJCP.2019.20.1.235. PMID: 30678438Free PMC Article

Therapy

Prognostic significance of acquired 1q22 gain in multiple myeloma.
Audil HY, Cook JM, Greipp PT, Kapoor P, Baughn LB, Dispenzieri A, Gertz MA, Buadi FK, Lacy MQ, Dingli D, Fonder AL, Hayman SR, Hobbs MA, Muchtar E, Siddiqui M, Gonsalves WI, Hwa YL, Leung N, Lin Y, Kourelis TV, Warsame R, Kyle RA, Ketterling RP, Rajkumar SV, Kumar SK
Am J Hematol 2022 Jan 1;97(1):52-59. Epub 2021 Nov 3 doi: 10.1002/ajh.26391. PMID: 34710241
Monosomy 13 in metaphase spreads is a predictor of poor long-term outcome after bortezomib plus dexamethasone treatment for relapsed/refractory multiple myeloma.
Kiyota M, Kobayashi T, Fuchida S, Yamamoto-Sugitani M, Ohshiro M, Shimura Y, Mizutani S, Nagoshi H, Sasaki N, Nakayama R, Chinen Y, Sakamoto N, Uchiyama H, Matsumoto Y, Horiike S, Shimazaki C, Kuroda J, Taniwaki M
Int J Hematol 2012 May;95(5):516-26. Epub 2012 Mar 17 doi: 10.1007/s12185-012-1035-8. PMID: 22426624
Molecular cytogenetic aberrations in patients with multiple myeloma studied by interphase fluorescence in situ hybridization.
Chen L, Li J, Xu W, Qiu H, Zhu Y, Zhang Y, Duan L, Qian S, Lu H
Exp Oncol 2007 Jun;29(2):116-20. PMID: 17704743
Relationship of patient survival and chromosome anomalies detected in metaphase and/or interphase cells at diagnosis of myeloma.
Dewald GW, Therneau T, Larson D, Lee YK, Fink S, Smoley S, Paternoster S, Adeyinka A, Ketterling R, Van Dyke DL, Fonseca R, Kyle R
Blood 2005 Nov 15;106(10):3553-8. Epub 2005 Jul 19 doi: 10.1182/blood-2005-05-1981. PMID: 16030187Free PMC Article
Deletions of chromosome 13 in multiple myeloma identified by interphase FISH usually denote large deletions of the q arm or monosomy.
Fonseca R, Oken MM, Harrington D, Bailey RJ, Van Wier SA, Henderson KJ, Kay NE, Van Ness B, Greipp PR, Dewald GW
Leukemia 2001 Jun;15(6):981-6. doi: 10.1038/sj.leu.2402125. PMID: 11417487

Prognosis

Prognostic significance of acquired 1q22 gain in multiple myeloma.
Audil HY, Cook JM, Greipp PT, Kapoor P, Baughn LB, Dispenzieri A, Gertz MA, Buadi FK, Lacy MQ, Dingli D, Fonder AL, Hayman SR, Hobbs MA, Muchtar E, Siddiqui M, Gonsalves WI, Hwa YL, Leung N, Lin Y, Kourelis TV, Warsame R, Kyle RA, Ketterling RP, Rajkumar SV, Kumar SK
Am J Hematol 2022 Jan 1;97(1):52-59. Epub 2021 Nov 3 doi: 10.1002/ajh.26391. PMID: 34710241
DIS3 mutations in multiple myeloma impact the transcriptional signature and clinical outcome.
Todoerti K, Ronchetti D, Favasuli V, Maura F, Morabito F, Bolli N, Taiana E, Neri A
Haematologica 2022 Apr 1;107(4):921-932. doi: 10.3324/haematol.2021.278342. PMID: 33951891Free PMC Article
Cytogenetic Abnormalities in Multiple Myeloma Patients at a Tertiary Healthcare Center in India.
Govindasamy P, Pandurangan P, Tarigopula A, Mani R, R Samuel C
Asian Pac J Cancer Prev 2019 Jan 25;20(1):235-241. doi: 10.31557/APJCP.2019.20.1.235. PMID: 30678438Free PMC Article
Prognostic Implications of Monosomies in Patients With Multiple Myeloma.
Shin SY, Eom HS, Sohn JY, Lee H, Park B, Joo J, Jang JH, Lee MN, Kim JK, Kong SY
Clin Lymphoma Myeloma Leuk 2017 Mar;17(3):159-164.e2. Epub 2016 Dec 26 doi: 10.1016/j.clml.2016.12.001. PMID: 28089441
Close relation between 14q32/IGH translocations and chromosome 13 abnormalities in multiple myeloma: a high incidence of 11q13/CCND1 and 16q23/MAF.
Takimoto M, Ogawa K, Kato Y, Saito T, Suzuki T, Irei M, Shibuya Y, Suzuki Y, Kato M, Inoue Y, Takahashi M, Sugimori H, Miura I
Int J Hematol 2008 Apr;87(3):260-5. Epub 2008 Feb 16 doi: 10.1007/s12185-008-0039-x. PMID: 18274833

Clinical prediction guides

Pathologic, cytogenetic, and molecular features of acute myeloid leukemia with megakaryocytic differentiation: A report from the Children's Oncology Group.
Chisholm KM, Smith J, Heerema-McKenney AE, Choi JK, Ries RE, Hirsch BA, Raimondi SC, Wang YC, Dang A, Alonzo TA, Sung L, Aplenc R, Gamis AS, Meshinchi S, Kahwash SB
Pediatr Blood Cancer 2023 May;70(5):e30251. Epub 2023 Feb 15 doi: 10.1002/pbc.30251. PMID: 36789545Free PMC Article
DIS3 mutations in multiple myeloma impact the transcriptional signature and clinical outcome.
Todoerti K, Ronchetti D, Favasuli V, Maura F, Morabito F, Bolli N, Taiana E, Neri A
Haematologica 2022 Apr 1;107(4):921-932. doi: 10.3324/haematol.2021.278342. PMID: 33951891Free PMC Article
Hyperdiploidy is a common finding in monoclonal gammopathy of undetermined significance and monosomy 13 is restricted to these hyperdiploid patients.
Brousseau M, Leleu X, Gerard J, Gastinne T, Godon A, Genevieve F, Dib M, Lai JL, Facon T, Zandecki M; Intergroupe Francophone du Myélome
Clin Cancer Res 2007 Oct 15;13(20):6026-31. doi: 10.1158/1078-0432.CCR-07-0031. PMID: 17947464
Chromosome 13 abnormalities in multiple myeloma are mostly monosomy 13.
Avet-Louseau H, Daviet A, Sauner S, Bataille R; Intergroupe Francophone du Myélome
Br J Haematol 2000 Dec;111(4):1116-7. doi: 10.1046/j.1365-2141.2000.02488.x. PMID: 11227093
Trisomy/partial monosomy 13 mosaicism associated with relatively mild clinical malformation.
Duckett DP, Porter HJ, Young ID
Ann Genet 1992;35(2):113-6. PMID: 1524408

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