Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance

被引：56

作者：

Durno, Carol ^{[1
,2
]}

Ercan, Ayse Bahar ^{[3
,4
]}

Bianchi, Vanessa ^{[3
]}

Edwards, Melissa ^{[3
]}

Aronson, Melyssa ^{[2
]}

Galati, Melissa ^{[3
,4
]}

Atenafu, Eshetu G. ^{[5
]}

Abebe-Campino, Gadi ^{[6
]}

Al-Battashi, Abeer ^{[7
]}

Alharbi, Musa ^{[8
]}

Azad, Vahid Fallah ^{[9
]}

Baris, Hagit N. ^{[10
]}

Basel, Donald ^{[11
]}

Bedgood, Raymond ^{[12
]}

Bendel, Anne ^{[13
]}

Ben-Shachar, Shay ^{[14
]}

Blumenthal, Deborah T. ^{[15
]}

Blundell, Maude ^{[16
]}

Bornhorst, Miriam ^{[17
]}

Bronsema, Annika ^{[18
]}

Cairney, Elizabeth ^{[19
]}

Rhode, Sara ^{[20
]}

Caspi, Shani ^{[21
]}

Chamdin, Aghiad ^{[22
]}

Chiaravalli, Stefano ^{[23
]}

Constantini, Shlomi ^{[24
]}

Crooks, Bruce ^{[25
]}

Das, Anirban ^{[26
]}

Dvir, Rina ^{[27
]}

Farah, Roula ^{[28
]}

Foulkes, William D. ^{[29
,30
]}

Frenkel, Zehavit ^{[31
]}

Gallinger, Bailey ^{[32
]}

Gardner, Sharon ^{[33
]}

Gass, David ^{[34
]}

Ghalibafian, Mithra ^{[9
]}

Gilpin, Catherine ^{[35
]}

Goldberg, Yael ^{[36
]}

Goudie, Catherine ^{[37
]}

Hamid, Syed Ahmer ^{[38
]}

Hampel, Heather ^{[39
]}

Hansford, Jordan R. ^{[40
]}

Harlos, Craig ^{[41
]}

Hijiya, Nobuko ^{[42
]}

Hsu, Saunders ^{[43
]}

Kamihara, Junne ^{[44
]}

Kebudi, Rejin ^{[45
]}

Knipstein, Jeffrey ^{[46
]}

Koschmann, Carl ^{[47
]}

Kratz, Christian ^{[48
]}

机构：

[1] Hosp Sick Children, Div Gastroenterol Hepatol & Nutr, Toronto, ON, Canada

[2] Mt Sinai Hosp, Familial Gastrointestinal Canc Registry, Zane Cohen Ctr Digest Dis, Toronto, ON, Canada

[3] Hosp Sick Children, Arthur & Sonia Labatt Brain Tumour Res Ctr, Toronto, ON, Canada

[4] Univ Toronto, Inst Med Sci, Toronto, ON, Canada

[5] Univ Toronto, Princess Margaret Canc Ctr, Dept Biostat, Toronto, ON, Canada

[6] Sheba Med Ctr, Dept Pediat Hematol Oncol, Tel Hashomer, Israel

[7] Minist Hlth Oman, Muscat, Oman

[8] King Fahad Med City, Dept Pediat Hematol Oncol, Riyadh, Saudi Arabia

[9] MAHAK Pediat Canc Treatment & Res Ctr MPCTRC, Tehran, Iran

[10] Rambam Hlth Care Campus, Genet Inst, Haifa, Israel

[11] Med Coll Wisconsin, Pediat, Milwaukee, WI 53226 USA

[12] Coliseum Med Ctr, Macon, GA USA

[13] Childrens Hosp & Clin Minnesota, Dept Pediat Hematol Oncol, Minneapolis, MN USA

[14] Tel Aviv Sourasky Med Ctr, Genet Inst, Tel Aviv, Israel

[15] Tel Aviv Univ, Oncol Div, Sackler Fac Med, Tel Aviv, Israel

[16] Sutter Hlth, Canc Risk Program, Sacramento, CA USA

[17] Childrens Natl Med Ctr, Brain Tumor Inst, Washington, DC 20010 USA

[18] Univ Med Ctr Hamburg Eppendorf, Dept Pediat Hematol & Oncol, Hamburg, Germany

[19] London Hlth Sci Ctr, Dept Pediat, London, ON, Canada

[20] Cleveland Clin, Dept Hematol & Oncol, Cleveland, OH 44106 USA

[21] Sheba Med Ctr, Canc Res Ctr, Tel Hashomer, Israel

[22] Michigan State Univ, Coll Human Med, Ctr Bleeding & Clotting Disorders, E Lansing, MI 48824 USA

[23] Fdn IRCCS Ist Nazl Tumori, Pediat Unit, Milan, Lombardia, Italy

[24] Tel Aviv Sourasky Med Ctr, Dept Pediat Neurosurg, Tel Aviv, Israel

[25] IWK Hlth Ctr, Div Hematol Oncol, Halifax, NS, Canada

[26] Hosp Sick Children, Div Hematol & Oncol, Toronto, ON, Canada

[27] Tel Aviv Sourasky Med Ctr, Dept Pediat Hematooncol, Tel Aviv, Israel

[28] Lebanese Amer Univ Med Ctr Rizk, Lebanon, NH USA

[29] McGill Univ Hlth Ctr, Dept Oncol, Canc Genet Program, Montreal, PQ, Canada

[30] McGill Univ Hlth Ctr, Dept Human Genet, Canc Genet Program, Montreal, PQ, Canada

[31] Sheba Med Ctr Tel Hashomer, Tel Hashomer, Israel

[32] Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada

[33] NYU Langone Hlth, Dept Pediat Hematol Oncol, New York, NY USA

[34] Atrium Hlth, Dept Pediat Hematol & Oncol, Charlotte, NC USA

[35] Childrens Hosp Eastern Ontario, Genet, Ottawa, ON, Canada

[36] Hadassah Med Ctr, Dept Oncol, Jerusalem, Israel

[37] McGill Univ Hlth Ctr, Div Oncol, Montreal, PQ, Canada

[38] Indus Hosp, Karachi, Sindh, Pakistan

[39] Ohio State Univ, Comprehens Canc Ctr, Internal Med, Columbus, OH 43210 USA

[40] Royal Childrens Hosp Melbourne, Childrens Canc Ctr, Melbourne, Vic, Australia

[41] CancerCare Manitoba, Dept Med Oncol & Hematol, Winnipeg, MB, Canada

[42] Columbia Univ, Pediat Hematol Oncol & Stem Cell Transplant, Irving Med Ctr, New York, NY USA

[43] Sutter Hlth, Dept Pediat Hematol Oncol, Sacramento, CA USA

[44] Dana Farber Childrens Hosp Canc Ctr, Pediat Oncol, Boston, MA USA

[45] Istanbul Univ, Dept Pediat Hematol Oncol, Istanbul, Turkey

[46] Med Coll Wisconsin, Dept Pediat Neurol, Milwaukee, WI 53226 USA

[47] Univ Michigan, Sch Med, Dept Pediat Hematol Oncol, Ann Arbor, MI USA

[48] Hosp Goethe Univ Frankfurt, Dept Pediat Haematol & Oncol, Frankfurt, Hessen, Germany

[49] Univ Laval, Dept Hematol Oncol, CHU Quebec, Quebec City, PQ, Canada

[50] Hosp Infantil Univ Nino Jesus, Dept Pediat Hematol Oncol, Madrid, Spain

来源：

JOURNAL OF CLINICAL ONCOLOGY | 2021年 / 39卷 / 25期

基金：

加拿大健康研究院; 以色列科学基金会;

关键词：

EUROPEAN CONSORTIUM CARE; TP53 MUTATION CARRIERS; LI-FRAUMENI SYNDROME; IMAGING SURVEILLANCE; FOLLOW-UP; HYPERMUTATION; RECOMMENDATIONS; HEREDITARY; MECHANISMS; GUIDELINES;

D O I：

10.1200/JCO.20.02636

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

PURPOSE Constitutional mismatch repair deficiency syndrome (CMMRD) is a lethal cancer predisposition syndrome characterized by early-onset synchronous and metachronous multiorgan tumors. We designed a surveillance protocol for early tumor detection in these individuals. PATIENTS AND METHODS Data were collected from patients with confirmed CMMRD who were registered in the International Replication Repair Deficiency Consortium. Tumor spectrum, efficacy of the surveillance protocol, and malignant transformation of low-grade lesions were examined for the entire cohort. Survival outcomes were analyzed for patients followed prospectively from the time of surveillance implementation. RESULTS A total of 193 malignant tumors in 110 patients were identified. Median age of first cancer diagnosis was 9.2 years (range: 1.7-39.5 years). For patients undergoing surveillance, all GI and other solid tumors, and 75% of brain cancers were detected asymptomatically. By contrast, only 16% of hematologic malignancies were detected asymptomatically (P < .001). Eighty-nine patients were followed prospectively and used for survival analysis. Five-year overall survival (OS) was 90% (95% CI, 78.6 to 100) and 50% (95% CI, 39.2 to 63.7) when cancer was detected asymptomatically and symptomatically, respectively (P = .001). Patient outcome measured by adherence to the surveillance protocol revealed 4-year OS of 79% (95% CI, 54.8 to 90.9) for patients undergoing full surveillance, 55% (95% CI, 28.5 to 74.5) for partial surveillance, and 15% (95% CI, 5.2 to 28.8) for those not under surveillance (P < .0001). Of the 64 low-grade tumors detected, the cumulative likelihood of transformation from low-to high-grade was 81% for GI cancers within 8 years and 100% for gliomas in 6 years. CONCLUSION Surveillance and early cancer detection are associated with improved OS for individuals with CMMRD.

引用

页码：2779 / +

页数：13

共 50 条

[31] Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD)
Erika K. S. M. Leenders
Harm Westdorp
Roger J. Brüggemann
Jan Loeffen
Christian Kratz
John Burn
Nicoline Hoogerbrugge
Marjolijn C. J. Jongmans
European Journal of Human Genetics, 2018, 26 : 1417 - 1423
[32] Ongoing issues with the management of children with Constitutional Mismatch Repair Deficiency syndrome
Farah, Roula A.
Maalouf, Farid
Chahine, Nassim Abi
Farhat, Hussein
Campbell, Brittany
Zhukova, Nataliya
Durno, Carol
Aronson, Melyssa
Hawkins, Cynthia
Bouffet, Eric
Tabori, Uri
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2019, 62 (08)
[33] A Family with Constitutional Mismatch Repair Deficiency and Multiple Cancers from Turkey
Ozyoruk, D.
Pinarli, F.
Erdogan, A. S. Oguz
Hanalioglu, S.
PEDIATRIC BLOOD & CANCER, 2018, 65 : S451 - S451
[34] ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management
Colas, Chrystelle
Guerrini-Rousseau, Lea
Suerink, Manon
Gallon, Richard
Kratz, Christian P.
Ayuso, Eloise
Brugieres, Laurence
Wimmer, Katharina
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 (12) : 1526 - 1541
[35] A case of MSH2-related constitutional mismatch repair deficiency syndrome
Leter, E. M.
Ligtenberg, M. J. L.
van der Post, R. S.
Hoogerbrugge, N.
Mensenkamp, A. R.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 504 - 504
[36] Constitutional mismatch repair deficiency: a case on a commonly misinterpreted mutation in colon cancer
King, C.
Edwards, H.
Thompson, E.
Abdelmasseh, M.
Cuaranta, A.
Pacioles, A.
Sanabria, J.
CLINICAL JOURNAL OF GASTROENTEROLOGY, 2024, 17 (05) : 866 - 870
[37] First case of constitutional mismatch repair deficiency associated with congenital melanocytic naevus
Lovgren, M. -L.
Jury, C.
Davidson, R.
Barclay, A.
Devenny, A.
Zuberi, S.
O'Kane, R.
Murphy, D.
Beattie, P. E.
BRITISH JOURNAL OF DERMATOLOGY, 2017, 177 : 157 - 157
[38] Colorectal Cancer due to Constitutional Mismatch Repair Deficiency Mimicking Neurofibromatosis I
Urganci, Nafiye
Genc, Dildar Bahar
Kose, Gulsen
Onal, Zerrin
Vidin, Ozge Ozdemir
PEDIATRICS, 2015, 136 (04) : E1047 - E1050
[39] Challenges of Neoantigen Targeting in Lynch Syndrome and Constitutional Mismatch Repair Deficiency Syndrome
Abidi, Asima
Gorris, Mark A. J.
Brennan, Evan
Jongmans, Marjolijn C. J.
Weijers, Dilys D.
Kuiper, Roland P.
de Voer, Richarda M.
Hoogerbrugge, Nicoline
Schreibelt, Gerty
de Vries, I. Jolanda M.
CANCERS, 2021, 13 (10)
[40] Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1
Wimmer, K.
Rosenbaum, T.
Messiaen, L.
CLINICAL GENETICS, 2017, 91 (04) : 507 - 519

← 1 2 3 4 5 →