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Basal cell nevus syndrome 2(BCNS2)

MedGen UID:
1841087
Concept ID:
C5830451
Neoplastic Process
Synonyms: BCNS2; NEVOID BASAL CELL CARCINOMA SYNDROME 2
 
Gene (location): SUFU (10q24.32)
 
Monarch Initiative: MONDO:0958189
OMIM®: 620343

Definition

The basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is characterized by numerous basal cell cancers and epidermal cysts of the skin, calcified dural folds, keratocysts of the jaws, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, fetal rhabdomyomas, and various stigmata of maldevelopment (e.g., rib and vertebral abnormalities, cleft lip or cleft palate, and cortical defects of bones) (summary by Koch et al., 2002). For a discussion of genetic heterogeneity of BCNS, see BCNS1 (109400). [from OMIM]

Clinical features

From HPO
Angiofibromas
MedGen UID:
104928
Concept ID:
C0206731
Neoplastic Process
Angiofibroma consist of many often dilated vessels.
Skin basal cell carcinoma
MedGen UID:
1648304
Concept ID:
C4721806
Neoplastic Process
The presence of a basal cell carcinoma of the skin.
Vertigo
MedGen UID:
53006
Concept ID:
C0042571
Sign or Symptom
An abnormal sensation of spinning while the body is actually stationary.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Medulloblastoma
MedGen UID:
7517
Concept ID:
C0025149
Neoplastic Process
Medulloblastoma is the most common brain tumor in children. It accounts for 16% of all pediatric brain tumors, and 40% of all cerebellar tumors in childhood are medulloblastoma. Medulloblastoma occurs bimodally, with peak incidences between 3 and 4 years and 8 and 9 years of age. Approximately 10 to 15% of medulloblastomas are diagnosed in infancy. Medulloblastoma accounts for less than 1% of central nervous system (CNS) tumors in adults, with highest incidence in adults 20 to 34 years of age. In 1 to 2% of patients, medulloblastoma is associated with Gorlin syndrome (109400), a nevoid basal carcinoma syndrome. Medulloblastoma also occurs in up to 40% of patients with Turcot syndrome (see 276300). Medulloblastoma is thought to arise from neural stem cell precursors in the granular cell layer of the cerebellum. Standard treatment includes surgery, chemotherapy, and, depending on the age of the patient, radiation therapy (Crawford et al., 2007). Millard and De Braganca (2016) reviewed the histopathologic variants and molecular subgroups of medulloblastoma. Pretreatment prognosis of medulloblastoma has been refined by histopathologic subclassification into the following variants: large-cell medulloblastoma, anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity (MBEN). The latter 2 groups have been shown to have a significantly superior prognosis as compared to the large cell and anaplastic groups in young children. At the molecular level, medulloblastomas have been categorized into the following subgroups: wingless (WNT), sonic hedgehog (SHH), group 3, and group 4. Each subgroup is characterized by a unique set of genetics and gene expression as well as demographic and clinical features.
Meningioma
MedGen UID:
7532
Concept ID:
C0025286
Neoplastic Process
The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.
Neurofibroma
MedGen UID:
45058
Concept ID:
C0027830
Neoplastic Process
A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas.
Migraine
MedGen UID:
57451
Concept ID:
C0149931
Disease or Syndrome
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
Calcification of falx cerebri
MedGen UID:
237237
Concept ID:
C1397139
Disease or Syndrome
The presence of calcium deposition in the falx cerebri.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Nevus
MedGen UID:
45074
Concept ID:
C0027960
Neoplastic Process
A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.
Papule
MedGen UID:
507324
Concept ID:
C0332563
Finding
A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.
Palmar pits
MedGen UID:
96101
Concept ID:
C0423776
Finding
Plantar pits
MedGen UID:
338902
Concept ID:
C1852301
Finding
The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Cai X, Zhang H, Wang Y, Zhang J, Li T
Int J Oral Sci 2024 Feb 26;16(1):16. doi: 10.1038/s41368-024-00287-y. PMID: 38403665Free PMC Article
Onodera S, Nakamura Y, Azuma T
Int J Mol Sci 2020 Oct 13;21(20) doi: 10.3390/ijms21207559. PMID: 33066274Free PMC Article
John AM, Schwartz RA
Br J Dermatol 2016 Jan;174(1):68-76. Epub 2015 Dec 9 doi: 10.1111/bjd.14206. PMID: 26409035

Recent clinical studies

Etiology

Batchala PP, Eluvathingal Muttikkal TJ, Mukherjee S
Radiol Clin North Am 2021 May;59(3):471-500. doi: 10.1016/j.rcl.2021.01.009. PMID: 33926690
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Diagnosis

Batchala PP, Eluvathingal Muttikkal TJ, Mukherjee S
Radiol Clin North Am 2021 May;59(3):471-500. doi: 10.1016/j.rcl.2021.01.009. PMID: 33926690
Hill CR, Theos A
Dermatol Clin 2019 Apr;37(2):229-239. doi: 10.1016/j.det.2018.11.004. PMID: 30850045
Jen M, Nallasamy S
Clin Dermatol 2016 Mar-Apr;34(2):242-75. Epub 2015 Dec 2 doi: 10.1016/j.clindermatol.2015.11.008. PMID: 26903188
Hottinger AF, Khakoo Y
J Child Neurol 2009 Dec;24(12):1526-35. doi: 10.1177/0883073809337539. PMID: 19955345
Kimmelman A, Liang BC
Hematol Oncol Clin North Am 2001 Dec;15(6):1073-84. doi: 10.1016/s0889-8588(05)70268-9. PMID: 11770299

Therapy

Wescott R, Samlowski W
Curr Oncol 2023 Oct 16;30(10):9156-9167. doi: 10.3390/curroncol30100661. PMID: 37887561Free PMC Article
Mesti T, Sever M, Ocvirk J
Dermatology 2023;239(1):158-164. Epub 2022 Jul 27 doi: 10.1159/000525612. PMID: 35896082Free PMC Article
Kalogirou EM, Thermos G, Zogopoulos V, Foutadakis S, Michalopoulos I, Agelopoulos M, Tosios KI
Clin Oral Investig 2021 Jun;25(6):3351-3367. Epub 2021 Mar 17 doi: 10.1007/s00784-021-03877-w. PMID: 33730212
Hill CR, Theos A
Dermatol Clin 2019 Apr;37(2):229-239. doi: 10.1016/j.det.2018.11.004. PMID: 30850045
John AM, Schwartz RA
Br J Dermatol 2016 Jan;174(1):68-76. Epub 2015 Dec 9 doi: 10.1111/bjd.14206. PMID: 26409035

Prognosis

Lopez-Cañizares A, Al-Khersan H, Carletti P, Shields CL, Berrocal AM
Ophthalmic Surg Lasers Imaging Retina 2022 Sep;53(9):514-516. Epub 2022 Sep 1 doi: 10.3928/23258160-20220811-01. PMID: 36107625
Bartoš V, Kullová M, Adamicová K, Paučinová I
Klin Onkol 2019 Spring;32(2):124-128. doi: 10.14735/amko2019124. PMID: 30995852
DeLair DF, Soslow RA
Surg Pathol Clin 2016 Jun;9(2):269-87. Epub 2016 Apr 11 doi: 10.1016/j.path.2016.01.008. PMID: 27241108
Adepitan AO, Bilodeau EA, Summersgill KF, Potluri A
Pa Dent J (Harrisb) 2014 Mar-Apr;81(2):32-5. PMID: 24979969
Hanson H, Hodgson S
Best Pract Res Clin Obstet Gynaecol 2010 Feb;24(1):3-18. Epub 2009 Oct 27 doi: 10.1016/j.bpobgyn.2009.08.002. PMID: 19864186

Clinical prediction guides

Peng X, Chen M, Wang D, Han R, Gao T, Liu L, Liu C, Zhang K
Zhejiang Da Xue Xue Bao Yi Xue Ban 2023 Apr 25;52(2):223-229. doi: 10.3724/zdxbyxb-2022-0492. PMID: 37283107Free PMC Article
Betancourt NJ, Qian MF, Pickford JR, Bailey-Healy I, Tang JY, Teng JMC
J Clin Oncol 2022 Jul 1;40(19):2119-2127. Epub 2022 Mar 25 doi: 10.1200/JCO.21.02385. PMID: 35333541
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Recent systematic reviews

Lafuente-Ibáñez de Mendoza I, Aguirre-Urizar JM, Villatoro-Ugalde V, Magaña-Quiñones JJ, Lana-Ojeda J, Mosqueda-Taylor A
Oral Dis 2022 May;28(4):1198-1206. Epub 2021 Mar 21 doi: 10.1111/odi.13834. PMID: 33682271
Kalogirou EM, Thermos G, Zogopoulos V, Foutadakis S, Michalopoulos I, Agelopoulos M, Tosios KI
Clin Oral Investig 2021 Jun;25(6):3351-3367. Epub 2021 Mar 17 doi: 10.1007/s00784-021-03877-w. PMID: 33730212
Atarbashi-Moghadam S, Atarbashi-Moghadam F, Sijanivandi S, Mokhtari S
J Stomatol Oral Maxillofac Surg 2020 Apr;121(2):146-149. Epub 2019 Jul 20 doi: 10.1016/j.jormas.2019.07.010. PMID: 31336213
MacDonald DS
Oral Surg Oral Med Oral Pathol Oral Radiol 2015 Sep;120(3):396-407. Epub 2015 Jun 16 doi: 10.1016/j.oooo.2015.05.024. PMID: 26297395
Bhargava D, Deshpande A, Pogrel MA
Oral Maxillofac Surg 2012 Jun;16(2):163-70. Epub 2011 Nov 11 doi: 10.1007/s10006-011-0302-9. PMID: 22072419

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