Revised European Consortium Care for Constitutional Mismatch Repair Deficiency (C4CMMRD) Indication Criteria

Calculator

When to use

Pre-malignancies or malignancies in the patient

Carcinoma of the Lynch syndrome spectrum and/or a high-grade dysplastic adenoma of the digestive tract at age < 25 years

Multiple colorectal adenomas at age < 25 years and no genetic diagnosis/explanation upon testing for polyposis syndromes

T-cell lymphoblastic lymphoma at age < 18 years

World Health Organization grade III or IV glioma at age < 25 years

Any other malignancy at age < 18 years

Hypo-/hyperpigmentations in the patient (optional)

Clinical sign of neurofibromatosis type 1 and/or ≥ 4 hyperpigmented and/or hypopigmented skin alterations with a diameter > 1 cm

2 or 3 hyperpigmented and/or hypopigmented skin alterations with a diameter > 1 cm

Pilomatrixomas in the patient (optional)

Multiple pilomatrixomas

One pilomatrixoma

Additional features in the patient (optional)

Agenesis of the corpus callosum

Non-therapy-induced cavernoma

Multiple developmental venous anomalies cerebral venous angiomas) in separate regions of the brain

Pediatric systemic lupus erythematosus

Deficiency/reduced levels of immunoglobulin G 2/4 and/or immunoglobulin A

Additional features in the family (optional)

Consanguineous parents

Diagnosis of Lynch syndrome in a first-degree or second-degree relative

Carcinoma from Lynch syndrome spectrum before the age of 60 years in a first-degree, second-degree, and/or third-degree relative

A sibling with a pre-malignancy or malignancy assigned 2 or 3 C4CMMRD scoring points any of the first four conditions in the first secton above)

A sibling with any type of childhood malignancy

Calculation

Please enter all the required inputs.

The Revised European Consortium Care for Constitutional Mismatch Repair Deficiency (C4CMMRD) Indication Criteria is a clinical calculator used in the field of oncology, specifically for pediatric patients. This scoring system is designed to identify patients who are likely to have Constitutional Mismatch Repair Deficiency (CMMRD), a rare autosomal recessive disorder that predisposes individuals to a variety of cancers at a young age. The C4CMMRD Indication Criteria is used to determine the need for genetic testing for CMMRD in children and adolescents who present with certain types of cancers, or who have a family history of these cancers. The criteria include factors such as the type and number of cancers, age at diagnosis, presence of certain clinical features, and family history of cancer or CMMRD. The clinical utility of this calculator is to aid in the early identification of CMMRD, allowing for appropriate genetic counseling, surveillance for additional cancers, and potentially life-saving interventions. There are no specific exclusion criteria for the use of the C4CMMRD Indication Criteria, but it is primarily intended for use in pediatric and adolescent patients. It may not be as useful or accurate in adults or in individuals without a family history of cancer or CMMRD.

Reference

Chrystelle Colas, Léa Guerrini-Rousseau, Manon Suerink et al. ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management. Eur J Hum Genet. 2024 Dec;32(12):1526-1541.

Open reference URL

Create free account