Article Figures & Data
Figures
- Fig 1.
MR imaging of an 8-year-old girl with CMMRD (patient 6). Axial T2-FLAIR (A) and postcontrast T1 (B) show a right occipitotemporal heterogeneously enhancing mass with regional mass effect. Pathology results indicated glioblastoma.
- Fig 2.
MR images of a boy with CMMRD (patient 3). Routine surveillance imaging at 8 years of age shows subtle right parietal subcortical T2-FLAIR hyperintensity (arrow in A). This subcortical T2-FLAIR hyperintensity increased in size a year later (arrow in B). Two years later, a large heterogeneously enhancing mass is evident on T2-FLAIR (C and D) and postcontrast T1WI (E). The histopathologic diagnosis is glioblastoma (WHO IV).
- Fig 3.
Surveillance brain MR imaging studies of a boy with CMMRD (patient 2). Serial T2-FLAIR imaging shows nonspecific subcortical hyperintensities (arrows) slowly increasing in size (10 years of age, A; 15 years of age, B). At 18 years of age (C), there is an infiltrative lesion involving the right insula (asterisk) and base of the right frontal lobe. Biopsy results indicated diffuse astrocytoma (WHO II). Three months later (D), marked increase in the left frontotemporal lesion was obvious along with central necrosis (arrowhead). This lesion was resected, and pathologic testing indicated glioblastoma.
- Fig 4.
MR images of a girl with CMMRD (patient 6) and glioblastoma (not shown). A gradual increase in frontoparietal subcortical T2-FLAIR hyperintensities (arrows) is noted during 2 years of surveillance (7 years of age, A; 8 years of age, B; and 9 years of age, C).
- Fig 5.
Left cerebellar developmental venous anomaly seen in patient 1, as shown by axial SWI (A) and postcontrast T1 imaging (B).
- Fig 6.
T2-weighted image of a diffuse astrocytoma in the left frontal lobe (asterisk) of a 14-year-old girl (patient 5). Ovoid nonenhancing hyperintense foci are noted in the right thalamus (arrow) and left globus pallidus, similar to focal areas of signal intensities commonly seen in patients with neurofibromatosis type 1.
Tables
Criteria Indication for CMMRD testing ≥3 Points Malignancies/premalignancies: 1 is mandatory; if >1 is present in the patient, add the points Carcinoma from the LS spectrumb at younger than 25 years of age 3 points Multiple bowel adenomas at younger than 25 years of age and absence of APC/MUTYH mutations or a single high-grade dysplasia adenoma at younger than 25 years of age 3 points WHO grade III or IV glioma at younger than 25 years of age 2 points NHL of T-cell lineage or sPNET at younger than 18 years of age 2 points Any malignancy at younger than 18 years of age 1 point Additional features: optional; if >1 of the following is present, add the points Clinical sign of NF1 and/or ≥2 hyperpigmented and/or hypopigmented skin alterations Ø > 1 cm in the patient 2 points Diagnosis of LS in a first-degree or second-degree relative 2 points Carcinoma from LS spectrumb before 60 years of age in first-degree, second-degree, and third-degree relatives 1 point A sibling with carcinoma from the LS spectrum,b high-grade glioma, sPNET, or NHL 2 points A sibling with any type of childhood malignancy 1 point Multiple pilomatricomas in the patient 2 points One pilomatricoma in the patient 1 point Agenesis of the corpus callosum or nontherapy-induced cavernoma in the patient 1 point Consanguineous parents 1 point Deficiency/reduced levels of immunoglobulin (Ig)G2/4 and/or IgA 1 point Note:—LS indicates Lynch syndrome; NHL, non-Hodgkin lymphoma; sPNET, supratentorial primitive neuroectodermal tumor; NF1, neurofibromatosis type I.
↵a Reprinted with permission from Wimmer et al.5
↵b Colorectal, endometrial, small bowel, ureter, renal pelvis, biliary tract, stomach, bladder carcinoma.
Patient T2-FLAIR Subcortical Hyperintensities Focal Areas of T2-FLAIR Hyperintense Signal Intensity (Basal Ganglia, Thalamus, Pons, or Cerebellum) Developmental Venous Anomalies Cavernous Hemangioma 1 Parietal − Cerebellum Frontal periventricular 2 − − Frontal, cerebellum − 3 Frontal − Frontal, cerebellum Pons 4 − − − − 5 Frontal, parietal + Frontoparietal − 6 Frontal, parietal, occipital − Insula Temporal 7 − − Pons − 8 Frontal, temporal − Frontal − 9 − − Frontal, temporal − 10 Frontal, parietal, temporal, occipital + Frontal, parietal − 11 Temporal, cerebellar peduncle + Frontal, temporal, cerebellum − 12 Cerebellum, cerebellar peduncle, frontal brain stem + – – 13 Frontal, temporal – Frontal, temporal – 14 Frontal – Frontal – Note:—– indicates absent; +, present.
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