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| Family ID | Type | Mutation (polymorphism) | Affected number (percent) | Affected individuals (diagnosed primarily with symptoms) | Presymptomatic carriers (diagnosed primarily with genetic testing) | ATA risk based on 2015 ATA risk guideline (ATA risk based on 2009 ATA risk guideline) |
|
| Familial Cases |
| IR-F4 | MEN2A | L790F (Polymorphism:
L769L, S836S) | 4 (11.4%) | II-2, II-3: Confirmed histopathologically and underwent thyroidectomy
Ctn level (before surgery): high
Ctn level (after sugery): decreased to normal level | III-5:
Ctn level: high
Thyroidectomy done | MOD (A) |
III-6:
Ctn level: high
Thyroidectomy done |
III-3:
Ctn level (before surgery): high
Pathologic staging: T1 N0 MX
Ctn level (after sugery): decreased to normal level | III-7:
Ctn level: high
Thyroidectomy done |
III-10:
Ctn level (before surgery): high
Pathologic staging: T1 NX MX
Ctn level (after sugery): decreased to normal level | IV-2: Prophylactic thyroidectomy recommended |
| IV-8: Prophylactic thyroidectomy recommended |
| IR-F15 | MTC | C634R | 2 (5.7%) | I-2: Died | | H (C) |
II-2: Ctn level: 320 pg/mL
Ctn level (after sugery): decreased to normal level |
| IR-F18 | MEN2A | C634R (Polymorphism:
G691S, S904S) | 8 (22.8%) | II-2, II-4, II-6, II-7, III-3, III-4 and III-8:
Confirmed histopathologically.
Thyroidectomy done
Ctn level (before surgery): high
Ctn level (after sugery): decreased to normal level | III-6:
Thyroidectomy recommended | H (C) |
| IR-F25 | MEN2A | C630R (Polymorphism:
G691S, L769L, S904S) | 3 (8.6%) | II-4: Thyroidectomy, parathyroidectomy and adrenalectomy done.
Ctn level (before surgery): high
Ctn level (after surgery): 1.67 pg/mL | III-4: Ctn level: >1000 pg/mL
Prophylactic thyroidectomy done. | MOD (B) |
III-6: Ctn level: 62 pg/mL,
Prophylactic thyroidectomy done. |
III-1: Thyroidectomy done.
Ctn level (before surgery): high
Ctn level (after sugery): 11.7 pg/mL | IV-1: Ctn level: high,
Prophylactic thyroidectomy done. |
IV-2: Ctn level: Normal
Prophylactic thyroidectomy recommended |
III-2: Thyroidectomy, parathyroid and adrenalectomy done.
Ctn level (before surgery): >1000 pg/mL
Ctn level (after surgery): NA | IV-4: Ctn level: high,
Prophylactic thyroidectomy done. |
IV-9: Ctn level: high,
Prophylactic thyroidectomy done. |
| IR-F31 | MEN2A | C634R | 4 (11.4%) | I-1: Thyroidectomy and adrenalectomy done. (Ctn level: NA) | III-3: Prophylactic thyroidectomy recommended. | H (C) |
| III-4: Prophylactic thyroidectomy recommended. |
| II-2: Thyroidectomy, adrenalectomy done. (Ctn level: NA) | |
| II-4: Thyroidectomy, adrenalectomy done. (Ctn level: NA) | |
| II-5 Thyroidectomy, adrenalectomy done. (Ctn level: NA) | |
| IR-F33 | MEN2A | C618R (Polymorphism:
G691S) | 2 (5.7%) | I-1: Thyroidectomy done.
Ctn level (before surgery): 200 pg/mL
Ctn level (after surgery): 20 pg/mL | II-1: Thyroidectomy done. (Ctn: decreased to normal level) | MOD (B) |
| II-2: Thyroidectomy done. (Ctn: decreased to normal level) |
II-5: Thyroidectomy and adrenalectomy done.
Ctn level (before surgery): >1000 pg/mL
Ctn level (after surgery): 300 pg/mL | II-3: Thyroidectomy done. (Ctn: decreased to normal level) |
| IR-F36 | MEN2A | C634R | 2 (5.7%) | II-2: Thyroidectomy, adrenalectomy done.
III-1: Died | III-2, III-4: Prophylactic thyroidectomy recommended. | H (C) |
|
| Apparently Sporadic Cases |
| IR-F11 | Metastatic MTC | M918T | 1 (2.8%) | Ctn level (before surgery): 8600 pg/mL
Thyroidectomy done. Relapse with high Ctn level: 2000 pg/mL. Metastatic MTC reported in histopathology report and sonography of neck | | HST (D) |
| IR-F14 | MTC | C611Y (Polymorphism:
G691S, L769L) | 1 (2.8%) | Confirmed histopathologically and underwent thyroidectomy
Ctn level (before surgery): high
Ctn level (after sugery): decreased to normal level | III-2: Prophylactic thyroidectomy recommended. | MOD (B) |
| IR-F17 | MEN2A | C634R | 1 (2.8%) | Thyroidectomy and unilateral adrenalectomy done.
Ctn level (before surgery): 352 pg/mL
Relapse with high Ctn level. | III-1:
Ctn level: 20 pg/mL
Thyroidectomy recommended | H (C) |
| IR-F19 | MTC | V648I (uncertain) | 1 (2.8%) | Thyroidectomy done years ago.
Relapse with Ctn level of 31 pg/ml. | — | — |
| IR-F22 | MTC | C634F (Polymorphism:
G691S, L769L, S836S, S904S + A > T IVS16) | 1 (2.8%) | Confirmed histopathologically. Thyroidectomy done.
Ctn level (before surgery): 553 pg/mL
Ctn level (after surgery): 1.2 pg/mL | III-1:
Ctn level: 13.4 pg/mL
Thyroidectomy recommended | H (C) |
| IR-F23 | MEN2B (metastatic MTC + ambigous genitalia) | M918T | 1 (2.8%) | Metastatic MTC to lymph nodes and both lungs confirmed histopathologically
Total thyroidectomy and LND done.
Ctn level: >2000 pg/mL | — | HST (D) |
| IR-F29 | MEN2A | C634R | 1 (2.8%) | Thyroidectomy and bilateral adrenalectomy done.
Ctn level: NA | IV-1:
Ctn level: Normal
Prophylactic thyroidectomy recommended | H (C) |
| IR-F37 | MTC | M918T | 1 (2.8%) | NA | — | HST (D) |
| IR-F38 | MTC | C634Y, H658R (novel) | 1 (2.8%) | NA | — | H (C) |
| IR-F39 | MTC | C634Y (Polymorphism:
G691S) | 1 (2.8%) | NA | — | H (C) |
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