Table 2. Risk of malignant neoplasm in patients with neurofibromatosis type 1 compared with the reference cohortb, number of each observed (O) and expected (E) cancer, ratio of ratea (RR) with 95% confidence intervals (95% CI) and P-values.
| All years | Excluding first year | |||||||
|---|---|---|---|---|---|---|---|---|
| Cancers (ICD-10 codesc) | O | E | RR (95% CI) | P -value | O | E | RR (95% CI) | P -value |
| Oesophagus (C15) | 18 | 5.4 | 3.3 (2.0–5.3) | <0.001 | 12 | 4.5 | 2.7 (1.4–4.7) | 0.001 |
| Stomach (C16) | 13 | 4.7 | 2.8 (1.5–4.7) | <0.001 | 7 | 3.8 | 1.8 (0.7–3.8) | 0.174 |
| Small intestine (C17) | 12 | 0.8 | 14.5 (7.5–25.3) | <0.001 | 6 | 0.7 | 9.2 (3.4–20.0) | <0.001 |
| Colon (C18) | 26 | 13.2 | 2.0 (1.3–2.9) | 0.001 | 14 | 11.0 | 1.3 (0.7–2.1) | 0.446 |
| Rectosigmoid junction (C19) | 7 | 2.9 | 2.4 (1.0–4.8) | 0.042 | d | |||
| Rectum (C20) | 9 | 6.4 | 1.4 (0.6–2.7) | 0.434 | 8 | 5.3 | 1.5 (0.7–3.0) | 0.340 |
| Liver (C22) | 10 | 2.7 | 3.8 (1.8–6.8) | <0.001 | 7 | 2.2 | 3.1 (1.3–6.5) | 0.004 |
| Unspecified malignancies of biliary tract (C24) | 5 | 0.6 | 8.2 (2.7–19.3) | <0.001 | d | |||
| Pancreas (C25) | 16 | 4.7 | 3.4 (2.0–5.6) | <0.001 | 8 | 3.8 | 2.0 (0.9–4.1) | 0.062 |
| Other digestive organs (C26) | 10 | 2.1 | 4.8 (2.3– 8.8) | <0.001 | 8 | 1.7 | 4.7 (2.0–9.3) | <0.001 |
| Lung/bronchus (C34) | 66 | 21.4 | 3.0 (2.4–3.9) | <0.001 | 39 | 17.2 | 2.3 (1.6–3.1) | <0.001 |
| Heart, mediastinum and pleura (C38) | 7 | 0.4 | 19.0 (7.6–40.0) | <0.001 | 5 | 0.3 | 16.6 (5.4–39.0) | <0.001 |
| Retroperitoneum and peritoneum (C48) | 10 | 0.7 | 14.5 (6.9–26.6) | <0.001 | d | |||
| Malignant skin melanoma (C43) | 19 | 5.3 | 3.6 (2.2–5.6) | <0.001 | 12 | 4.3 | 2.8 (1.5–4.9) | <0.001 |
| Non-melanoma skin cancer (C44) | 53 | 34.0 | 1.6 (1.2–2.0) | 0.002 | 43 | 27.9 | 1.5 (1.1–2.1) | 0.006 |
| Bone and cartilage of limbs (C40) | 5 | 0.3 | 15.6 (5.1–36.7) | <0.001 | 5 | 0.2 | 23.1 (7.5–54.5) | <0.001 |
| Bone and cartilage of other sites (C41) | 17 | 0.9 | 19.6 (11.4–31.5) | <0.001 | 7 | 0.6 | 11.3 (4.5–23.4) | <0.001 |
| Other connective and soft tissue (C49) | 65 | 1.6 | 42.1 (32.4–53.8) | <0.001 | 28 | 1.2 | 23.8 (15.8–34.5) | <0.001 |
| Thyroid gland (C73) | 7 | 1.4 | 4.9 (2.0–10.2) | <0.001 | 6 | 1.2 | 5.1 (1.9–11.1) | <0.001 |
| Adrenal gland (medulla) (C74.1) | 12 | 0.1 | 304 (148–572) | <0.001 | 6 | 0.1 | 192 (67–451) | <0.001 |
| Diffuse non-Hodgkin’s lymphoma (C83) | 11 | 3.3 | 3.3 (1.7–6.0) | <0.001 | d | |||
| Unspecified non-Hodgkins lymphomas (C84) | 14 | 6.2 | 2.3 (1.2–3.8) | 0.004 | 7 | 4.6 | 1.5 (0.6–3.2) | 0.361 |
| Multiple myeloma (C90) | 7 | 2.9 | 2.4 (1.0–4.9) | 0.036 | d | |||
| Lymphoid leukaemia (C91) | 9 | 3.6 | 2.5 (1.1–4.6) | 0.011 | 5 | 2.4 | 2.1 (0.7–4.9) | 0.172 |
| Acute myeloid leukaemia (C92.0) | 8 | 1.9 | 4.2 (1.8–8.2) | <0.001 | 6 | 1.5 | 4.0 (1.5–8.6) | 0.001 |
| Chronic myeloid leukaemia (C92.1) | 5 | 0.7 | 6.7 (2.2–15.8) | <0.001 | d | |||
| Breast (women) (C50) | 58 | 25.7 | 2.3 (1.7–2.9) | <0.001 | 43 | 20.9 | 2.1 (1.5–2.8) | <0.001 |
| Body of uterus (C54) | 5 | 4.9 | 1.0 (0.3–2.4) | 0.867 | d | 0.679 | ||
| Ovary (C56) | 14 | 3.8 | 3.7 (2.0–6.2) | <0.001 | 10 | 3.0 | 3.3 (1.6–6.1) | <0.001 |
| Prostate (C61) | 17 | 23.1 | 0.7 (0.4–1.2) | 0.247 | 14 | 17.7 | 0.8 (0.4–1.3) | 0.444 |
Abbreviation: ICD=International Classification of Diseases.
Adjusted for age in 5-year bands, time period in single calendar years, region of residence and deprivation score associated with patients’ area of residence, in quintiles.
Conditions used in reference cohort, with Office of Population, Censuses and Surveys (OPCS) code edition 4 for operations and ICD-10 code for diagnosis (with equivalent codes used for other coding editions): appendectomy (OPCS4 H01–H03), adenoidectomy (E20), dilation and curettage (Q10–Q11), hip replacement (W37–W39), knee replacement (W40–W42), squint (ICD-10 H49–H51),cataract (H25), otitis (H60–H67), upper respiratory tract infections (J00–J06), varicose veins (I83), haemorrhoids (I84), deflected septum, nasal polyp (J33+J34.2), impacted tooth and other disorders of teeth (K00–K03), inguinal hernia (K40), head injury (S06), in-growing nail, toenail and other diseases of nail (L60), contraceptive management (Z30), internal derangement of knee (M23), bunion (727.1), dislocations, sprains and strains (S03, S13, S23, S33, S43, S53, S63, S73, S83, S93), selected limb fractures (S42, S52, S62, S82, S92), superficial injury and contusion (S00, S10, S20, S30, S40, S50, S60, S70, S80, S90). From analyses of colorectal cancers, we excluded appendectomy, haemorrhoids and inguinal hernia from the reference cohort. From analysis of uterine cancer we excluded dilation and curettage.
ICD-10 codes for each cancer.
Data are not shown for fewer than five observed cases.