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Retinoblastoma(RB1)

MedGen UID:
20552
Concept ID:
C0035335
Neoplastic Process
Synonyms: Eye cancer, retinoblastoma; RB1; Retinal cancer; Retinal tumor; RETINOBLASTOMA, SOMATIC
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Somatic mutation
MedGen UID:
107465
Concept ID:
C0544886
Cell or Molecular Dysfunction
Sources: HPO, OMIM
An alteration in DNA that occurs after conception. Somatic mutations can occur in any of the cells of the body except the germ cells (sperm and egg) and therefore are not passed on to children. These alterations can (but do not always) cause cancer or other diseases.
Sporadic
MedGen UID:
342827
Concept ID:
C1853237
Finding
Sources: HPO, OMIM
Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
Somatic mutation (HPO, OMIM)
Sporadic (HPO, OMIM)
not inherited (Orphanet)
SNOMED CT: Retinoblastoma (370967009); Retinoblastoma - morphology (19906005); Retinoblastoma (19906005)
 
Gene (location): RB1 (13q14.2)
OMIM®: 180200
HPO: HP:0009919
Orphanet: ORPHA790

Disease characteristics

Excerpted from the GeneReview: Retinoblastoma
Retinoblastoma (Rb) is a malignant tumor of the developing retina that occurs in children, usually before age five years. Rb develops from cells that have cancer-predisposing variants in both copies of RB1. Rb may be unifocal or multifocal. About 60% of affected individuals have unilateral Rb with a mean age of diagnosis of 24 months; about 40% have bilateral Rb with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for Rb. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. [from GeneReviews]
Authors:
Dietmar R Lohmann  |  Brenda L Gallie   view full author information

Additional descriptions

From OMIM
Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (189971) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).  http://www.omim.org/entry/180200
From GHR
Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. This form of cancer develops in the retina, which is the specialized light-sensitive tissue at the back of the eye that detects light and color.In most children with retinoblastoma, the disease affects only one eye. However, one out of three children with retinoblastoma develops cancer in both eyes. The most common first sign of retinoblastoma is a visible whiteness in the pupil called "cat's eye reflex" or leukocoria. This unusual whiteness is particularly noticeable in photographs taken with a flash. Other signs and symptoms of retinoblastoma include crossed eyes or eyes that do not point in the same direction (strabismus); persistent eye pain, redness, or irritation; and blindness or poor vision in the affected eye(s).Retinoblastoma is often curable when it is diagnosed early. However, if it is not treated promptly, this cancer can spread beyond the eye to other parts of the body. This advanced form of retinoblastoma can be life-threatening.When retinoblastoma is associated with a gene mutation that occurs in all of the body's cells, it is known as germinal retinoblastoma. People with this form of retinoblastoma also have an increased risk of developing several other cancers outside the eye. Specifically, they are more likely to develop a cancer of the pineal gland in the brain (pinealoma), a type of bone cancer known as osteosarcoma, cancers of soft tissues such as muscle, and an aggressive form of skin cancer called melanoma.  https://ghr.nlm.nih.gov/condition/retinoblastoma

Clinical features

Leukemia
MedGen UID:
9725
Concept ID:
C0023418
Neoplastic Process
Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. There are different types of leukemia, including. -Acute lymphocytic leukemia. -Acute myeloid leukemia. -Chronic lymphocytic leukemia. -Chronic myeloid leukemia. Leukemia can develop quickly or slowly. Chronic leukemia grows slowly. In acute leukemia, the cells are very abnormal and their number increases rapidly. Adults can get either type; children with leukemia most often have an acute type. Some leukemias can often be cured. Other types are hard to cure, but you can often control them. Treatments may include chemotherapy, radiation and stem cell transplantation. Even if symptoms disappear, you might need therapy to prevent a relapse. NIH: National Cancer Institute.
Lymphoma
MedGen UID:
44223
Concept ID:
C0024299
Neoplastic Process
Lymphoma is a cancer of a part of the immune system called the lymph system. There are many types of lymphoma. One type is Hodgkin disease. The rest are called non-Hodgkin lymphomas. Non-Hodgkin lymphomas begin when a type of white blood cell, called a T cell or B cell, becomes abnormal. The cell divides again and again, making more and more abnormal cells. These abnormal cells can spread to almost any other part of the body. Most of the time, doctors don't know why a person gets non-Hodgkin lymphoma. You are at increased risk if you have a weakened immune system or have certain types of infections. Non-Hodgkin lymphoma can cause many symptoms, such as . -Swollen, painless lymph nodes in the neck, armpits or groin. -Unexplained weight loss . -Fever . -Soaking night sweats . -Coughing, trouble breathing or chest pain . -Weakness and tiredness that don't go away . -Pain, swelling or a feeling of fullness in the abdomen . Your doctor will diagnose lymphoma with a physical exam, blood tests, a chest x-ray, and a biopsy. Treatments include chemotherapy, radiation therapy, targeted therapy, biological therapy, or therapy to remove proteins from the blood. Targeted therapy uses substances that attack cancer cells without harming normal cells. Biologic therapy boosts your body's own ability to fight cancer. If you don't have symptoms, you may not need treatment right away. This is called watchful waiting. NIH: National Cancer Institute.
Osteosarcoma
MedGen UID:
10501
Concept ID:
C0029463
Neoplastic Process
A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.
Retinoblastoma
MedGen UID:
20552
Concept ID:
C0035335
Neoplastic Process
Retinoblastoma (Rb) is a malignant tumor of the developing retina that occurs in children, usually before age five years. Rb develops from cells that have cancer-predisposing variants in both copies of RB1. Rb may be unifocal or multifocal. About 60% of affected individuals have unilateral Rb with a mean age of diagnosis of 24 months; about 40% have bilateral Rb with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for Rb. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors.
Ewing sarcoma
MedGen UID:
107816
Concept ID:
C0553580
Neoplastic Process
Ewing sarcoma is a cancerous tumor that occurs in bones or soft tissues, such as cartilage or nerves. There are several types of Ewing sarcoma, including Ewing sarcoma of bone, extraosseous Ewing sarcoma, peripheral primitive neuroectodermal tumor (pPNET), and Askin tumor. These tumors are considered to be related because they have similar genetic causes. These types of Ewing sarcoma can be distinguished from one another by the tissue in which the tumor develops. Approximately 87 percent of Ewing sarcomas are Ewing sarcoma of bone, which is a bone tumor that usually occurs in the thigh bones (femurs), pelvis, ribs, or shoulder blades. Extraosseous (or extraskeletal) Ewing sarcoma describes tumors in the soft tissues around bones, such as cartilage. pPNETs occur in nerve tissue and can be found in many parts of the body. A type of pPNET found in the chest is called Askin tumor.Ewing sarcomas most often occur in children and young adults. Affected individuals usually feel stiffness, pain, swelling, or tenderness of the bone or surrounding tissue. Sometimes, there is a lump near the surface of the skin that feels warm and soft to the touch. Often, children have a fever that does not go away. Ewing sarcoma of bone can cause weakening of the involved bone, and affected individuals may have a broken bone with no obvious cause.It is common for Ewing sarcoma to spread to other parts of the body (metastasize), usually to the lungs, to other bones, or to the bone marrow.
Vitreous hemorrhage
MedGen UID:
12119
Concept ID:
C0042909
Pathologic Function
Bleeding within the vitreous compartment of the eye.
Retinoblastoma
MedGen UID:
20552
Concept ID:
C0035335
Neoplastic Process
Retinoblastoma (Rb) is a malignant tumor of the developing retina that occurs in children, usually before age five years. Rb develops from cells that have cancer-predisposing variants in both copies of RB1. Rb may be unifocal or multifocal. About 60% of affected individuals have unilateral Rb with a mean age of diagnosis of 24 months; about 40% have bilateral Rb with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for Rb. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors.
Vitreous hemorrhage
MedGen UID:
12119
Concept ID:
C0042909
Pathologic Function
Bleeding within the vitreous compartment of the eye.
Leukocoria
MedGen UID:
57540
Concept ID:
C0152458
Disease or Syndrome
An abnormal white reflection from the pupil rather than the usual black reflection.
Retinal calcification
MedGen UID:
357948
Concept ID:
C1867289
Finding
Deposition of calcium salts in the retina.
Leukemia
MedGen UID:
9725
Concept ID:
C0023418
Neoplastic Process
Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. There are different types of leukemia, including. -Acute lymphocytic leukemia. -Acute myeloid leukemia. -Chronic lymphocytic leukemia. -Chronic myeloid leukemia. Leukemia can develop quickly or slowly. Chronic leukemia grows slowly. In acute leukemia, the cells are very abnormal and their number increases rapidly. Adults can get either type; children with leukemia most often have an acute type. Some leukemias can often be cured. Other types are hard to cure, but you can often control them. Treatments may include chemotherapy, radiation and stem cell transplantation. Even if symptoms disappear, you might need therapy to prevent a relapse. NIH: National Cancer Institute.
Lymphoma
MedGen UID:
44223
Concept ID:
C0024299
Neoplastic Process
Lymphoma is a cancer of a part of the immune system called the lymph system. There are many types of lymphoma. One type is Hodgkin disease. The rest are called non-Hodgkin lymphomas. Non-Hodgkin lymphomas begin when a type of white blood cell, called a T cell or B cell, becomes abnormal. The cell divides again and again, making more and more abnormal cells. These abnormal cells can spread to almost any other part of the body. Most of the time, doctors don't know why a person gets non-Hodgkin lymphoma. You are at increased risk if you have a weakened immune system or have certain types of infections. Non-Hodgkin lymphoma can cause many symptoms, such as . -Swollen, painless lymph nodes in the neck, armpits or groin. -Unexplained weight loss . -Fever . -Soaking night sweats . -Coughing, trouble breathing or chest pain . -Weakness and tiredness that don't go away . -Pain, swelling or a feeling of fullness in the abdomen . Your doctor will diagnose lymphoma with a physical exam, blood tests, a chest x-ray, and a biopsy. Treatments include chemotherapy, radiation therapy, targeted therapy, biological therapy, or therapy to remove proteins from the blood. Targeted therapy uses substances that attack cancer cells without harming normal cells. Biologic therapy boosts your body's own ability to fight cancer. If you don't have symptoms, you may not need treatment right away. This is called watchful waiting. NIH: National Cancer Institute.
Vitreous hemorrhage
MedGen UID:
12119
Concept ID:
C0042909
Pathologic Function
Bleeding within the vitreous compartment of the eye.
Leukemia
MedGen UID:
9725
Concept ID:
C0023418
Neoplastic Process
Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. There are different types of leukemia, including. -Acute lymphocytic leukemia. -Acute myeloid leukemia. -Chronic lymphocytic leukemia. -Chronic myeloid leukemia. Leukemia can develop quickly or slowly. Chronic leukemia grows slowly. In acute leukemia, the cells are very abnormal and their number increases rapidly. Adults can get either type; children with leukemia most often have an acute type. Some leukemias can often be cured. Other types are hard to cure, but you can often control them. Treatments may include chemotherapy, radiation and stem cell transplantation. Even if symptoms disappear, you might need therapy to prevent a relapse. NIH: National Cancer Institute.
Osteosarcoma
MedGen UID:
10501
Concept ID:
C0029463
Neoplastic Process
A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.
Retinal calcification
MedGen UID:
357948
Concept ID:
C1867289
Finding
Deposition of calcium salts in the retina.
Cleft palate
MedGen UID:
3107
Concept ID:
C0008925
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

Conditions with this feature

Osteosarcoma
MedGen UID:
10501
Concept ID:
C0029463
Neoplastic Process
A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.
Retinoblastoma
MedGen UID:
20552
Concept ID:
C0035335
Neoplastic Process
Retinoblastoma (Rb) is a malignant tumor of the developing retina that occurs in children, usually before age five years. Rb develops from cells that have cancer-predisposing variants in both copies of RB1. Rb may be unifocal or multifocal. About 60% of affected individuals have unilateral Rb with a mean age of diagnosis of 24 months; about 40% have bilateral Rb with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for Rb. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors.
13q partial monosomy syndrome
MedGen UID:
120541
Concept ID:
C0265451
Disease or Syndrome
The chromosome 13q14 deletion syndrome is characterized by retinoblastoma (180200), variable degrees of mental impairment, and characteristic facial features, including high forehead, prominent philtrum, and anteverted earlobes (summary by Caselli et al., 2007).

Professional guidelines

PubMed

Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee
Genet Med 2015 Jan;17(1):70-87. Epub 2014 Nov 13 doi: 10.1038/gim.2014.147. [Epub ahead of print] PMID: 25394175
ACMG Board of Directors
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. [Epub ahead of print] PMID: 25356965
Lu KH, Wood ME, Daniels M, Burke C, Ford J, Kauff ND, Kohlmann W, Lindor NM, Mulvey TM, Robinson L, Rubinstein WS, Stoffel EM, Snyder C, Syngal S, Merrill JK, Wollins DS, Hughes KS; American Society of Clinical Oncology
J Clin Oncol 2014 Mar 10;32(8):833-40. Epub 2014 Feb 3 doi: 10.1200/JCO.2013.50.9257. [Epub ahead of print] PMID: 24493721Free PMC Article
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. [Epub ahead of print] PMID: 23788249Free PMC Article
Lohmann D, Gallie B, Dommering C, Gauthier-Villars M
Eur J Hum Genet 2011 Mar;19(3) Epub 2010 Dec 8 doi: 10.1038/ejhg.2010.200. [Epub ahead of print] PMID: 21150892Free PMC Article
Toriello HV, Meck JM; Professional Practice and Guidelines Committee
Genet Med 2008 Jun;10(6):457-60. doi: 10.1097/GIM.0b013e318176fabb. PMID: 18496227Free PMC Article
Trepanier A, Ahrens M, McKinnon W, Peters J, Stopfer J, Grumet SC, Manley S, Culver JO, Acton R, Larsen-Haidle J, Correia LA, Bennett R, Pettersen B, Ferlita TD, Costalas JW, Hunt K, Donlon S, Skrzynia C, Farrell C, Callif-Daley F, Vockley CW; National Society of Genetic Counselors
J Genet Couns 2004 Apr;13(2):83-114. doi: 10.1023/B:JOGC.0000018821.48330.77. PMID: 15604628
Am J Hum Genet 1995 Nov;57(5):1233-41. PMID: 7485175Free PMC Article

Recent clinical studies

Etiology

Chao A, Kao LY, Liu L, Wang NK
BMC Ophthalmol 2016 Mar 15;16:27. doi: 10.1186/s12886-016-0204-6. [Epub ahead of print] PMID: 26975871Free PMC Article
Delhiwala KS, Vadakkal IP, Mulay K, Khetan V, Wick MR
Semin Diagn Pathol 2016 May;33(3):133-40. Epub 2015 Oct 23 doi: 10.1053/j.semdp.2015.10.007. [Epub ahead of print] PMID: 26969537
Sirin S, de Jong MC, de Graaf P, Brisse HJ, Galluzzi P, Maeder P, Bornfeld N, Biewald E, Metz KA, Temming P, Castelijns JA, Goericke SL; European Retinoblastoma Imaging Collaboration
Ophthalmology 2016 Mar;123(3):635-45. Epub 2015 Dec 12 doi: 10.1016/j.ophtha.2015.10.054. [Epub ahead of print] PMID: 26692298
Batra A, Kumari M, Paul R, Patekar M, Dhawan D, Bakhshi S
Pediatr Blood Cancer 2016 Feb;63(2):313-7. Epub 2015 Oct 21 doi: 10.1002/pbc.25781. [Epub ahead of print] PMID: 26488435
Garcia JR, Gombos DS, Prospero CM, Ganapathy A, Penland RL, Chévez-Barrios P
Arch Pathol Lab Med 2015 Dec;139(12):1531-8. doi: 10.5858/arpa.2014-0262-OA. PMID: 26619025

Diagnosis

Zhang Y, Wu D, Xia F, Xian H, Zhu X, Cui H, Huang Z
Biochem Biophys Res Commun 2016 Apr 29;473(2):600-6. Epub 2016 Mar 28 doi: 10.1016/j.bbrc.2016.03.129. [Epub ahead of print] PMID: 27033599
Chao A, Kao LY, Liu L, Wang NK
BMC Ophthalmol 2016 Mar 15;16:27. doi: 10.1186/s12886-016-0204-6. [Epub ahead of print] PMID: 26975871Free PMC Article
Delhiwala KS, Vadakkal IP, Mulay K, Khetan V, Wick MR
Semin Diagn Pathol 2016 May;33(3):133-40. Epub 2015 Oct 23 doi: 10.1053/j.semdp.2015.10.007. [Epub ahead of print] PMID: 26969537
Sirin S, de Jong MC, de Graaf P, Brisse HJ, Galluzzi P, Maeder P, Bornfeld N, Biewald E, Metz KA, Temming P, Castelijns JA, Goericke SL; European Retinoblastoma Imaging Collaboration
Ophthalmology 2016 Mar;123(3):635-45. Epub 2015 Dec 12 doi: 10.1016/j.ophtha.2015.10.054. [Epub ahead of print] PMID: 26692298
Batra A, Kumari M, Paul R, Patekar M, Dhawan D, Bakhshi S
Pediatr Blood Cancer 2016 Feb;63(2):313-7. Epub 2015 Oct 21 doi: 10.1002/pbc.25781. [Epub ahead of print] PMID: 26488435

Therapy

Azary S, Ganguly A, Bunin GR, Lombardi C, Park AS, Ritz B, Heck JE
PLoS One 2016;11(3):e0151728. Epub 2016 Mar 18 doi: 10.1371/journal.pone.0151728. PMID: 26991078Free PMC Article
Chao A, Kao LY, Liu L, Wang NK
BMC Ophthalmol 2016 Mar 15;16:27. doi: 10.1186/s12886-016-0204-6. [Epub ahead of print] PMID: 26975871Free PMC Article
Shields CL, Lally SE, Manjandavida FP, Leahey AM, Shields JA
Ophthalmology 2016 Feb;123(2):378-84. Epub 2015 Oct 30 doi: 10.1016/j.ophtha.2015.09.040. [Epub ahead of print] PMID: 26522706
Zheng XY, Li LJ, Li W, Jiang PF, Shen HQ, Chen YH, Chen X
Graefes Arch Clin Exp Ophthalmol 2015 Dec;253(12):2309-15. Epub 2015 Sep 3 doi: 10.1007/s00417-015-3157-1. [Epub ahead of print] PMID: 26335535
Temming P, Viehmann A, Arendt M, Eisele L, Spix C, Bornfeld N, Sauerwein W, Jöckel KH, Lohmann DR
Pediatr Blood Cancer 2015 Oct;62(10):1799-804. Epub 2015 May 13 doi: 10.1002/pbc.25576. [Epub ahead of print] PMID: 25970657

Prognosis

Zhang Y, Wu D, Xia F, Xian H, Zhu X, Cui H, Huang Z
Biochem Biophys Res Commun 2016 Apr 29;473(2):600-6. Epub 2016 Mar 28 doi: 10.1016/j.bbrc.2016.03.129. [Epub ahead of print] PMID: 27033599
Batra A, Kumari M, Paul R, Patekar M, Dhawan D, Bakhshi S
Pediatr Blood Cancer 2016 Feb;63(2):313-7. Epub 2015 Oct 21 doi: 10.1002/pbc.25781. [Epub ahead of print] PMID: 26488435
El Zomor H, Nour R, Alieldin A, Taha H, Montasr MM, Moussa E, El Nadi E, Ezzat S, Alfaar AS
J Egypt Natl Canc Inst 2015 Dec;27(4):195-203. Epub 2015 Oct 17 doi: 10.1016/j.jnci.2015.09.002. [Epub ahead of print] PMID: 26490323
de Jong MC, Kors WA, de Graaf P, Castelijns JA, Moll AC, Kivelä T
Am J Ophthalmol 2015 Dec;160(6):1116-1126.e5. Epub 2015 Sep 12 doi: 10.1016/j.ajo.2015.09.009. [Epub ahead of print] PMID: 26374932
Temming P, Viehmann A, Arendt M, Eisele L, Spix C, Bornfeld N, Sauerwein W, Jöckel KH, Lohmann DR
Pediatr Blood Cancer 2015 Oct;62(10):1799-804. Epub 2015 May 13 doi: 10.1002/pbc.25576. [Epub ahead of print] PMID: 25970657

Clinical prediction guides

Chao A, Kao LY, Liu L, Wang NK
BMC Ophthalmol 2016 Mar 15;16:27. doi: 10.1186/s12886-016-0204-6. [Epub ahead of print] PMID: 26975871Free PMC Article
Eloy P, Dehainault C, Sefta M, Aerts I, Doz F, Cassoux N, Lumbroso le Rouic L, Stoppa-Lyonnet D, Radvanyi F, Millot GA, Gauthier-Villars M, Houdayer C
PLoS Genet 2016 Feb;12(2):e1005888. Epub 2016 Feb 29 doi: 10.1371/journal.pgen.1005888. PMID: 26925970Free PMC Article
Batra A, Kumari M, Paul R, Patekar M, Dhawan D, Bakhshi S
Pediatr Blood Cancer 2016 Feb;63(2):313-7. Epub 2015 Oct 21 doi: 10.1002/pbc.25781. [Epub ahead of print] PMID: 26488435
Garcia JR, Gombos DS, Prospero CM, Ganapathy A, Penland RL, Chévez-Barrios P
Arch Pathol Lab Med 2015 Dec;139(12):1531-8. doi: 10.5858/arpa.2014-0262-OA. PMID: 26619025
Akbari MT, Naderi A, Saremi L, Sayad A, Irani S, Ahani A
Cancer Epidemiol 2015 Dec;39(6):1023-5. Epub 2015 Nov 18 doi: 10.1016/j.canep.2015.11.002. [Epub ahead of print] PMID: 26595280

Recent systematic reviews

de Jong MC, Kors WA, de Graaf P, Castelijns JA, Moll AC, Kivelä T
Am J Ophthalmol 2015 Dec;160(6):1116-1126.e5. Epub 2015 Sep 12 doi: 10.1016/j.ajo.2015.09.009. [Epub ahead of print] PMID: 26374932
Khosravi A, Shahrabi S, Shahjahani M, Saki N
Cell Oncol (Dordr) 2015 Aug;38(4):253-63. Epub 2015 Jun 11 doi: 10.1007/s13402-015-0232-x. [Epub ahead of print] PMID: 26063518
Monroy JE, Orbach DB, VanderVeen D
Semin Ophthalmol 2014 Sep-Nov;29(5-6):429-33. doi: 10.3109/08820538.2014.959188. PMID: 25325870
de Jong MC, Kors WA, de Graaf P, Castelijns JA, Kivelä T, Moll AC
Lancet Oncol 2014 Sep;15(10):1157-67. Epub 2014 Aug 7 doi: 10.1016/S1470-2045(14)70336-5. [Epub ahead of print] PMID: 25126964
Schaiquevich P, Carcaboso AM, Buitrago E, Taich P, Opezzo J, Bramuglia G, Chantada GL
Retina 2014 Sep;34(9):1719-27. doi: 10.1097/IAE.0000000000000253. PMID: 25099219

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