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Neoplastic syndrome

MedGen UID:: 362147
•Concept ID:: C1882062
•: Neoplastic Process

Synonyms:	cancer-related syndrome; Neoplasia; Neoplasm; Neoplastic disease; Neoplastic growth; Neoplastic Syndrome; neoplastic syndrome; New growth; NG - Neoplastic growth; NG - New growth; Tumor Syndrome; tumor syndrome
SNOMED CT:	Neoplasia (55342001); NG - Neoplastic growth (55342001); Neoplastic growth (55342001); New growth (55342001); NG - New growth (55342001); Neoplasm (55342001); Neoplastic disease (55342001)

Monarch Initiative:	MONDO:0021058

Definition

A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVNeoplastic syndrome

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Syndromic disease
      - Neoplastic syndrome
        Acute myeloid leukemia, M6 type
        Adult Acute Erythroid Leukemia
        Adult Erythroleukemia
        Adult Pure Erythroid Leukemia
        Childhood Acute Erythroid Leukemia
        Erythroleukemia
        Erythroleukemia, familial, susceptibility to
        Pure Erythroid Leukemia
        Recurrent Acute Erythroid Leukemia
        Autoimmune lymphoproliferative syndrome type 1
        Autoimmune lymphoproliferative syndrome type 1, autosomal recessive
        Autoimmune lymphoproliferative syndrome, type 1a
        Autoimmune lymphoproliferative syndrome, type 1b
        Type 3 autoimmune lymphoproliferative syndrome
        Carney triad
        Diffuse Leiomyomatosis Syndrome
        Ectopic hormone secretion syndrome associated with neoplasia
        Carcinoid syndrome
        Carcinoid heart disease
        Ectopic ACTH secretion syndrome
        Ectopic aldosterone secretion
        Ectopic calcitonin production
        Ectopic Chorionic Gonadotropin Secretion Syndrome
        Ectopic growth hormone secretion
        Ectopic Parathormone Secretion Syndrome
        Ectopic prolactin secretion
        Ectopic renin secretion
        Inappropriate antidiuretic hormone secretion
        Growing teratoma syndrome
        Hereditary cancer-predisposing syndrome
        11p partial monosomy syndrome
        Attenuated familial adenomatous polyposis
        APC-related attenuated familial adenomatous polyposis
        AXIN2-related attenuated familial adenomatous polyposis
        Familial adenomatous polyposis 2
        Familial adenomatous polyposis 3
        MSH3-related attenuated familial adenomatous polyposis
        Polymerase proofreading-related adenomatous polyposis
        B-K mole (nevus) syndrome
        BAP1 Tumor Predisposition Syndrome
        BAP1-related tumor predisposition syndrome
        Beckwith-Wiedemann syndrome
        Beckwith-Wiedemann syndrome due to 11p15 microdeletion
        Beckwith-Wiedemann syndrome due to 11p15 microduplication
        Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
        Beckwith-Wiedemann syndrome due to CDKN1C mutation
        Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
        Beckwith-Wiedemann syndrome due to NSD1 mutation
        Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
        Bloom syndrome
        Blue rubber bleb nevus
        Carney complex
        Carney complex type 2
        Carney complex, type 1
        Carney-Stratakis syndrome
        CDC73-Related Neoplastic Syndrome
        Familial isolated hyperparathyroidism
        Hyperparathyroidism 2 with jaw tumors
        CDH1-Associated Breast Carcinoma Syndrome
        Cobb syndrome
        Combined immunodeficiency due to OX40 deficiency
        Common variable immunodeficiency
        Combined immunodeficiency due to LRBA deficiency
        IL21-related infantile inflammatory bowel disease
        Immunodeficiency, common variable, 1
        Immunodeficiency, common variable, 2
        Immunodeficiency, common variable, 3
        Immunodeficiency, common variable, 4
        Immunodeficiency, common variable, 5
        Immunodeficiency, common variable, 6
        Immunodeficiency, common variable, 7
        Immunodeficiency, common variable, 10
        Immunodeficiency, common variable, 12
        Immunodeficiency, common variable, 14
        Pancytopenia due to IKZF1 mutations
        Constitutional mismatch repair deficiency syndrome
        Cowden syndrome
        Proteus syndrome
        Dyskeratosis congenita
        Autosomal recessive dyskeratosis congenita
        Autosomal recessive dyskeratosis congenita 4
        Dyskeratosis congenita, autosomal dominant 1
        Dyskeratosis congenita, autosomal dominant 2
        Dyskeratosis congenita, autosomal dominant 3
        Dyskeratosis congenita, autosomal dominant 6
        Dyskeratosis congenita, autosomal recessive 1
        Dyskeratosis congenita, autosomal recessive 2
        Dyskeratosis congenita, autosomal recessive 3
        Dyskeratosis congenita, autosomal recessive 5
        Dyskeratosis congenita, autosomal recessive 6
        Dyskeratosis congenita, X-linked
        Revesz syndrome
        Enchondromatosis
        Epidermodysplasia verruciformis
        Euthyroid goiter
        Euthyroid multinodular goiter
        Familial atypical multiple mole melanoma syndrome
        Melanoma, cutaneous malignant, susceptibility to, 1
        Melanoma-pancreatic cancer syndrome
        Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
        Familial multiple polyposis syndrome
        Familial adenomatous polyposis due to 5q22.2 microdeletion
        Gardner syndrome
        Turcot syndrome with polyposis
        Familial Myelodysplastic Syndrome
        SAMD9-Associated Familial Myelodysplastic Syndrome
        SAMD9L-Associated Familial Myelodysplastic Syndrome
        Fibrous dysplasia of jaw
        Gastric adenocarcinoma and proximal polyposis of the stomach
        Gastrointestinal stromal tumor, familial
        GCGR-related hyperglucagonemia
        Gorlin syndrome
        Hereditary breast ovarian cancer syndrome
        BRCA1-Associated Hereditary Breast and Ovarian Cancer Syndrome
        BRCA2-Associated Hereditary Breast and Ovarian Cancer Syndrome
        Breast-ovarian cancer, familial, susceptibility to, 1
        Breast-ovarian cancer, familial, susceptibility to, 2
        Breast-ovarian cancer, familial, susceptibility to, 3
        Breast-ovarian cancer, familial, susceptibility to, 4
        Hereditary Colorectal Cancer Syndrome
        Hereditary nonpolyposis colon cancer
        Hereditary nonpolyposis colorectal neoplasms
        Colorectal cancer, hereditary nonpolyposis, type 2
        Hereditary pheochromocytoma-paraganglioma
        Paragangliomas 1
        Paragangliomas 2
        Paragangliomas 3
        Paragangliomas 4
        Paragangliomas 5
        Hereditary retinoblastoma
        Inherited bone marrow failure syndrome
        Congenital hypoplastic anemia
        Fanconi anemia
        Hypoplastic anemia - familial
        Shwachman syndrome
        Juvenile polyposis syndrome
        Generalized juvenile polyposis/juvenile polyposis coli
        Juvenile polyposis of infancy
        Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
        Kostmann syndrome
        Li-Fraumeni syndrome
        Li-Fraumeni syndrome 1
        Li-Fraumeni syndrome 2
        Maffucci syndrome
        Melanoma and neural system tumor syndrome
        Melanoma, cutaneous malignant, susceptibility to, 8
        Monosomy 7 myelodysplasia and leukemia syndrome 1
        Multiple congenital exostosis
        Exostoses, multiple, type 2
        Exostoses, multiple, type III
        Multiple digital exostoses
        Multiple long-bone exostoses
        Multiple cutaneous leiomyomas
        Multiple endocrine neoplasia
        Multiple endocrine neoplasia type 4
        Multiple endocrine neoplasia, type 1
        Multiple endocrine neoplasia, type 2
        Multiple endocrine neoplasia, type 2a
        Multiple endocrine neoplasia, type 2b
        Multiple fibrofolliculomas
        Multiple Self Healing Epithelioma of Ferguson-Smith
        Nephroblastoma
        Adult kidney Wilms tumor
        Anaplastic Kidney Wilms Tumor
        Blastema predominant kidney Wilms tumor
        Cervical Wilms tumor
        Childhood kidney Wilms tumor
        Drash syndrome
        Epithelial predominant Wilms tumor
        Hereditary Wilms tumor
        Kidney Wilms tumor
        Metachronous kidney Wilms tumor
        Mixed cell type kidney Wilms tumor
        Nonanaplastic kidney Wilms tumor
        Ovarian Wilms tumor
        Paratesticular Wilms Tumor
        Prostate Wilms Tumor
        Recurrent Kidney Wilms Tumor
        Stage I Kidney Wilms Tumor
        Stage II Kidney Wilms Tumor
        Stage III Kidney Wilms Tumor
        Stage IV Kidney Wilms Tumor
        Stage V Kidney Wilms Tumor
        Stromal predominant kidney Wilms tumor
        Neurocutaneous syndrome
        Ataxia-telangiectasia syndrome
        Linear nevus sebaceous syndrome
        Neurofibromatosis
        Sturge-Weber syndrome
        Tuberous sclerosis syndrome
        Von Hippel-Lindau syndrome
        Neurofibromatosis, type 1
        Chromosome 17q11.2 deletion syndrome, 1.4Mb
        Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
        Neurofibromatosis Type 1 with Inoperable, Progressive, Symptomatic Plexiform Neurofibromas
        Recurrent Neurofibromatosis Type 1
        Refractory Neurofibromatosis Type 1
        Neurofibromatosis, type 2
        Palmoplantar keratoderma-esophageal carcinoma syndrome
        Peutz-Jeghers syndrome
        Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
        Polymerase proofreading associated polyposis
        Progeroid features-hepatocellular carcinoma predisposition syndrome
        PTEN hamartoma tumor syndrome
        Bannayan-Riley-Ruvalcaba syndrome
        Cowden syndrome 1
        Dysplastic gangliocytoma of the cerebellum
        Proteus-like syndrome
        Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
        Rhabdoid tumor predisposition syndrome
        Rhabdoid tumor predisposition syndrome 1
        Rhabdoid tumor predisposition syndrome 2
        Roberts-SC phocomelia syndrome
        Roberts syndrome
        SC phocomelia syndrome
        Rothmund-Thomson syndrome
        Rothmund-Thomson syndrome type 1
        Rothmund-Thomson syndrome type 2
        Schwannomatosis
        Turcot syndrome
        Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
        Werner syndrome
        Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome
        Wiskott-Aldrich syndrome
        X-linked agammaglobulinemia
        Meigs syndrome
        Mosaic variegated aneuploidy syndrome 1
        Myelodysplastic syndrome
        Adult Myelodysplastic Syndrome
        Childhood myelodysplastic syndrome
        Refractory cytopenia of childhood
        de novo Myelodysplastic Syndrome
        Familial monosomy 7 syndrome
        Monosomy 7 myelodysplasia and leukemia syndrome 2
        Hypocellular Myelodysplastic Syndrome
        Monocytopenia with susceptibility to infections
        Myelodysplastic syndrome associated with isolated del(5q)
        Myelodysplastic syndrome with excess blasts
        Myelodysplastic Syndrome with Excess Blasts and Fibrosis
        Myelodysplastic syndrome with excess blasts-1
        Myelodysplastic syndrome with excess blasts-2
        Myelodysplastic Syndrome with Isolated del(5q)
        Myelodysplastic syndrome with multilineage dysplasia
        Aregenerative anemia
        Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
        Refractory cytopenia with unilineage dysplasia
        Unclassified myelodysplastic syndrome
        Myelodysplastic syndrome with ring sideroblasts
        Myelodysplastic Syndrome with Somatic Mutations
        Myelodysplastic Syndrome, Unclassifiable
        Myelodysplastic Syndrome, Unclassifiable, Based on Defining Cytogenetic Abnormality
        Myelodysplastic Syndrome, Unclassifiable, With 1 Percent Blasts
        Myelodysplastic Syndrome, Unclassifiable, with Single Lineage Dysplasia
        Paroxysmal Hemoglobinuria
        Recurrent Myelodysplastic Syndrome
        Refractory anemia
        Refractory anemia with excess blasts in transformation
        Refractory anemia with ringed sideroblasts (clinical)
        Myelodysplastic Syndrome with Ring Sideroblasts and Multilineage Dysplasia
        Myelodysplastic Syndrome with Ring Sideroblasts and Single Lineage Dysplasia
        Refractory Myelodysplastic Syndrome
        Secondary Myelodysplastic Syndrome
        Therapy-Related Myelodysplastic Syndrome
        Sideroblastic anemia
        Pyridoxine-responsive sideroblastic anemia
        Refractory sideroblastic anemia
        Pancoast syndrome
        Pancreatic cholera
        Rare Neoplastic Syndrome
        Costello syndrome
        Diaphyseal medullary stenosis-bone malignancy syndrome
        DICER1 syndrome
        DNA ligase I deficiency
        Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
        McCune-Albright syndrome
        Muir-Torré syndrome
        Rubinstein-Taybi syndrome
        Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
        Rubinstein-Taybi syndrome due to CREBBP mutations
        Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
        Richter syndrome
        Tumor lysis syndrome
        Zollinger-Ellison syndrome

Professional guidelines

PubMed

Vaginal intraepithelial neoplasia: risk factors for persistence, recurrence, and invasion and its management.

Sillman FH, Fruchter RG, Chen YS, Camilien L, Sedlis A, McTigue E
Am J Obstet Gynecol 1997 Jan;176(1 Pt 1):93-9. doi: 10.1016/s0002-9378(97)80018-x. PMID: 9024096

See all (1)

Recent clinical studies

Etiology

Pancreatic neuroendocrine tumors in MEN1 disease: a mono-centric longitudinal and prognostic study.

Chiloiro S, Lanza F, Bianchi A, Schinzari G, Brizi MG, Giampietro A, Rufini V, Inzani F, Giordano A, Rindi G, Pontecorvi A, De Marinis L
Endocrine 2018 May;60(2):362-367. Epub 2017 May 31 doi: 10.1007/s12020-017-1327-0. PMID: 28567607

High-dose therapy and autologous stem cell transplantation in patients with POEMS syndrome: a retrospective study of the Plasma Cell Disorder sub-committee of the Chronic Malignancy Working Party of the European Society for Blood & Marrow Transplantation.

Cook G, Iacobelli S, van Biezen A, Ziagkos D, LeBlond V, Abraham J, McQuaker G, Schoenland S, Rambaldi A, Halaburda K, Rovira M, Sica S, Byrne J, Sanz RG, Nagler A, van de Donk NW, Sinisalo M, Cook M, Kröger N, De Witte T, Morris C, Garderet L
Haematologica 2017 Jan;102(1):160-167. Epub 2016 Sep 15 doi: 10.3324/haematol.2016.148460. PMID: 27634201 Free PMC Article

Palliative transarterial embolization of renal tumors in 20 patients.

Guy L, Alfidja AT, Chabrot P, Ravel A, Boiteux JP, Boyer L
Int Urol Nephrol 2007;39(1):47-50. Epub 2007 Feb 20 doi: 10.1007/s11255-006-9072-y. PMID: 17310315

Clinical and ethical implications of genetic counselling in familial adenomatous polyposis.

Fernández-Suárez A, Cordero Fernández C, García Lozano R, Pizarro A, Garzón M, Núñez Roldán A
Rev Esp Enferm Dig 2005 Sep;97(9):654-65. doi: 10.4321/s1130-01082005000900006. PMID: 16266238

Vaginal intraepithelial neoplasia: risk factors for persistence, recurrence, and invasion and its management.

Sillman FH, Fruchter RG, Chen YS, Camilien L, Sedlis A, McTigue E
Am J Obstet Gynecol 1997 Jan;176(1 Pt 1):93-9. doi: 10.1016/s0002-9378(97)80018-x. PMID: 9024096

See all (7)

Diagnosis

Renal Neoplasms in Young Adults.

Gopee-Ramanan P, Chin SS, Lim C, Shanbhogue KP, Schieda N, Krishna S
Radiographics 2022 Mar-Apr;42(2):433-450. doi: 10.1148/rg.210138. PMID: 35230920

Pancreatic neuroendocrine tumors in MEN1 disease: a mono-centric longitudinal and prognostic study.

Beta-2-glycoprotein-1 and alpha-1-antitrypsin as urinary markers of renal cancer in von Hippel-Lindau patients.

Mandili G, Notarpietro A, Khadjavi A, Allasia M, Battaglia A, Lucatello B, Frea B, Turrini F, Novelli F, Giribaldi G, Destefanis P
Biomarkers 2018 Mar;23(2):123-130. Epub 2016 Dec 22 doi: 10.1080/1354750X.2016.1269132. PMID: 28004973

Familial colorectal cancer.

Lung MS, Trainer AH, Campbell I, Lipton L
Intern Med J 2015 May;45(5):482-91. doi: 10.1111/imj.12736. PMID: 25955461

See all (26)

Therapy

Case Report: Severe Hematological, Muscle and Liver Toxicity Caused by Drugs and Artichoke Infusion Interaction in an Elderly Polymedicated Patient.

Campos MG, Machado J, Costa ML, Lino S, Correia F, Maltez F
Curr Drug Saf 2018;13(1):44-50. doi: 10.2174/1574886312666170912163746. PMID: 28901251

Heparin and prednisone-associated priapism: two case reports.

Xu C, Xu G, Tu W, Wu X, Fang X, Huang T
Andrologia 2011 Feb;43(1):68-70. Epub 2010 Nov 28 doi: 10.1111/j.1439-0272.2009.01006.x. PMID: 21219386

Anogenital papillomavirus infection and neoplasia in immunodeficient women.

Sillman FH, Sedlis A
Obstet Gynecol Clin North Am 1987 Jun;14(2):537-58. PMID: 2829084

Prolactinomas as part of the multiple endocrine neoplastic syndrome type 1.

Hershon KS, Kelly WA, Shaw CM, Schwartz R, Bierman EL
Am J Med 1983 Apr;74(4):713-20. doi: 10.1016/0002-9343(83)91032-x. PMID: 6837595

See all (6)

Prognosis

Renal Neoplasms in Young Adults.

Gopee-Ramanan P, Chin SS, Lim C, Shanbhogue KP, Schieda N, Krishna S
Radiographics 2022 Mar-Apr;42(2):433-450. doi: 10.1148/rg.210138. PMID: 35230920

The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.

Hudler P, Urbancic M
Genes (Basel) 2022 Feb 17;13(2) doi: 10.3390/genes13020362. PMID: 35205407 Free PMC Article

Pancreatic neuroendocrine tumors in MEN1 disease: a mono-centric longitudinal and prognostic study.

AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome.

Marvin ML, Mazzoni SM, Herron CM, Edwards S, Gruber SB, Petty EM
Am J Med Genet A 2011 Apr;155A(4):898-902. Epub 2011 Mar 17 doi: 10.1002/ajmg.a.33927. PMID: 21416598 Free PMC Article

See all (13)

Clinical prediction guides

The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.

Hudler P, Urbancic M
Genes (Basel) 2022 Feb 17;13(2) doi: 10.3390/genes13020362. PMID: 35205407 Free PMC Article

Pancreatic neuroendocrine tumors in MEN1 disease: a mono-centric longitudinal and prognostic study.

A novel PRKAR1A mutation in Korean Carney complex family.

Rhee SY, Kwon HS, Lee JH, Woo JT, Kim MK, Lim YJ, Rhee BA, Koh SH, Lee S, Lee MH, Kim DY, Chon S, Oh S, Kim SW, Kim JW, Kim YS, Choi YK
Exp Clin Endocrinol Diabetes 2012 Jan;120(1):7-13. Epub 2011 Oct 21 doi: 10.1055/s-0031-1287790. PMID: 22020668

AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome.

Marvin ML, Mazzoni SM, Herron CM, Edwards S, Gruber SB, Petty EM
Am J Med Genet A 2011 Apr;155A(4):898-902. Epub 2011 Mar 17 doi: 10.1002/ajmg.a.33927. PMID: 21416598 Free PMC Article

Palliative transarterial embolization of renal tumors in 20 patients.

Guy L, Alfidja AT, Chabrot P, Ravel A, Boiteux JP, Boyer L
Int Urol Nephrol 2007;39(1):47-50. Epub 2007 Feb 20 doi: 10.1007/s11255-006-9072-y. PMID: 17310315

See all (7)

MedGen

National Center for Biotechnology Information

Send to:

Neoplastic syndrome

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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