Could the immune checkpoint inhibitor against colorectal cancer in constitutional mismatch repair deficiency syndrome prevent new cancer formation?

2021 ◽  
Author(s):  
Kazuki Tanimura ◽  
Kai Yamasaki ◽  
Kohei Matsubara ◽  
Mayuko Noguchi ◽  
Natsumi Kikuchi ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Mismatch Repair ◽  
Immune Checkpoint ◽  
Immune Checkpoint Inhibitor ◽  
Checkpoint Inhibitor ◽  
Deficiency Syndrome ◽  
Mismatch Repair Deficiency ◽  
Repair Deficiency ◽  
Constitutional Mismatch Repair Deficiency

scholarly journals The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals

2021 ◽  
Vol 22 (9) ◽  
pp. 4629
Author(s):  
Cristina Carrato ◽  
Carolina Sanz ◽  
Ana María Muñoz-Mármol ◽  
Ignacio Blanco ◽  
Marta Pineda ◽  
...  
Keyword(s):  
Brain Tumors ◽  
Mismatch Repair ◽  
Rare Event ◽  
Deficiency Syndrome ◽  
Mismatch Repair Deficiency ◽  
Malignant Brain Tumors ◽  
Repair Deficiency ◽  
Clinical Awareness ◽  
High Degree ◽  
Constitutional Mismatch Repair Deficiency

Biallelic germline mismatch repair (MMR) gene (MLH1, MSH2, MSH6, and PMS2) mutations are an extremely rare event that causes constitutional mismatch repair deficiency (CMMRD) syndrome. CMMRD is underdiagnosed and often debuts with pediatric malignant brain tumors. A high degree of clinical awareness of the CMMRD phenotype is needed to identify new cases. Immunohistochemical (IHC) assessment of MMR protein expression and analysis of microsatellite instability (MSI) are the first tools with which to initiate the study of this syndrome in solid malignancies. MMR IHC shows a hallmark pattern with absence of staining in both neoplastic and non-neoplastic cells for the biallelic mutated gene. However, MSI often fails in brain malignancies. The aim of this report is to draw attention to the peculiar IHC profile that characterizes CMMRD syndrome and to review the difficulties in reaching an accurate diagnosis by describing the case of two siblings with biallelic MSH6 germline mutations and brain tumors. Given the difficulties involved in early diagnosis of CMMRD we propose the use of the IHC of MMR proteins in all malignant brain tumors diagnosed in individuals younger than 25 years-old to facilitate the diagnosis of CMMRD and to select those neoplasms that will benefit from immunotherapy treatment.

Metachronous Wilms Tumor, Glioblastoma, and T-cell Leukemia in an Child With Constitutional Mismatch Repair Deficiency syndrome due to Novel Mutation in MSH6 (c.2590G>T)

2019 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Elvan C. Citak ◽  
Fatih Sagcan ◽  
Begumhan D. Gundugan ◽  
Sevcan T. Bozdogan ◽  
Eda B. Yilmaz ◽  
...  
Keyword(s):  
T Cell ◽  
Mismatch Repair ◽  
Wilms Tumor ◽  
Novel Mutation ◽  
Deficiency Syndrome ◽  
T Cell Leukemia ◽  
Cell Leukemia ◽  
Mismatch Repair Deficiency ◽  
Repair Deficiency ◽  
Constitutional Mismatch Repair Deficiency

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort

2015 ◽  
Vol 52 (11) ◽  
pp. 770-778 ◽  
Author(s):  
N Lavoine ◽  
C Colas ◽  
M Muleris ◽  
S Bodo ◽  
A Duval ◽  
...  
Keyword(s):  
Mismatch Repair ◽  
Deficiency Syndrome ◽  
Mismatch Repair Deficiency ◽  
Repair Deficiency ◽  
Clinical Description ◽  
French Cohort ◽  
Constitutional Mismatch Repair Deficiency

scholarly journals Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

2015 ◽  
Vol 149 (4) ◽  
pp. 1017-1029.e3 ◽  
Author(s):  
Sahra Bodo ◽  
Chrystelle Colas ◽  
Olivier Buhard ◽  
Ada Collura ◽  
Julie Tinat ◽  
...  
Keyword(s):  
Microsatellite Instability ◽  
Mismatch Repair ◽  
Deficiency Syndrome ◽  
Mismatch Repair Deficiency ◽  
Repair Deficiency ◽  
Methylating Agents ◽  
Constitutional Mismatch Repair Deficiency

Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in Israel

2017 ◽  
Vol 17 (1) ◽  
pp. 79-86 ◽  
Author(s):  
Naim Abu Freha ◽  
Yaara Leibovici Weissman ◽  
Alexander Fich ◽  
Inbal Barnes Kedar ◽  
Marisa Halpern ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Mismatch Repair ◽  
Mismatch Repair Deficiency ◽  
Repair Deficiency ◽  
Constitutional Mismatch Repair Deficiency

Colorectal Cancer due to Constitutional Mismatch Repair Deficiency Mimicking Neurofibromatosis I

PEDIATRICS ◽  
2015 ◽  
Vol 136 (4) ◽  
pp. e1047-e1050 ◽  
Author(s):  
N. Urganci ◽  
D. B. Genc ◽  
G. Kose ◽  
Z. Onal ◽  
O. O. Vidin
Keyword(s):  
Colorectal Cancer ◽  
Mismatch Repair ◽  
Mismatch Repair Deficiency ◽  
Neurofibromatosis I ◽  
Repair Deficiency ◽  
Constitutional Mismatch Repair Deficiency

scholarly journals Constitutional Mismatch Repair-Deficiency Syndrome Is a Rare Cause of Cancer Even in a Highly Consanguineous Population

2013 ◽  
Vol 04 (05) ◽  
pp. 996-1004 ◽  
Author(s):  
Rong Bu ◽  
Abdul K. Siraj ◽  
Prashant Bavi ◽  
Asim Belgaumi ◽  
Shahab Uddin ◽  
...  
Keyword(s):  
Mismatch Repair ◽  
Deficiency Syndrome ◽  
Mismatch Repair Deficiency ◽  
Repair Deficiency ◽  
Constitutional Mismatch Repair Deficiency

Constitutional Mismatch Repair-Deficiency Syndrome

2013 ◽  
Vol 18 (2) ◽  
pp. 79-80 ◽  
Author(s):  
Rebecca J. Allred ◽  
Wade Samowitz
Keyword(s):  
Mismatch Repair ◽  
Deficiency Syndrome ◽  
Mismatch Repair Deficiency ◽  
Repair Deficiency ◽  
Constitutional Mismatch Repair Deficiency
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