Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 41

1.

Pleuropulmonary blastoma

DICER1 -related disorders are a familial tumor susceptibility syndrome that confers increased risk most commonly for pleuropulmonary blastoma (PPB); ovarian sex cord-stromal tumors (Sertoli-Leydig cell tumor [SLCT], juvenile granulosa cell tumor [JGCT], and gynandroblastoma); cystic nephroma (CN); and thyroid gland neoplasia (multinodular goiter [MNG], adenomas, or differentiated thyroid cancer). Less commonly observed tumors are ciliary body medulloepithelioma (CBME); botryoid-type embryonal rhabdomyosarcoma (ERMS) of the cervix or other sites; nasal chondromesenchymal hamartoma (NCMH); renal sarcoma; pituitary blastoma; and pineoblastoma. Novel phenotypes continue to be discovered. The majority of tumors in families with aDICER1germline pathogenic variant occur in individuals younger than age 40 years. PPB, a neoplasm that arises during lung development or shortly after birth, typically presents in infants and children younger than age six years. Age of onset of ovarian sex cord-stromal tumors is not well defined. CN presents in children younger than age four years. [from GeneReviews]

MedGen UID:
266105
Concept ID:
C1266144
Neoplastic Process
2.

Pleuropulmonary blastoma

MedGen UID:
506476
Concept ID:
CN117421
Finding
3.

Blastoma

A malignant neoplasm composed of undifferentiated cells. [from NCI]

MedGen UID:
181704
Concept ID:
C0936282
Neoplastic Process
4.

Family history

MedGen UID:
69143
Concept ID:
C0241889
Finding
5.

Rhabdomyosarcoma

MedGen UID:
20561
Concept ID:
C0035412
Neoplastic Process
6.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
7.

Epithelioma, malignant

MedGen UID:
639977
Concept ID:
C0553707
Neoplastic Process
8.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
9.

Furriers lung

MedGen UID:
538594
Concept ID:
C0264476
Disease or Syndrome
10.

Coffee-workers lung

MedGen UID:
538589
Concept ID:
C0264468
Disease or Syndrome
11.

Cheese-washers lung

MedGen UID:
507549
Concept ID:
C0007969
Disease or Syndrome
12.

Ovarian neoplasm

MedGen UID:
506498
Concept ID:
CN117507
Finding
13.

Neoplasm of the lung

MedGen UID:
506475
Concept ID:
CN117419
Finding
14.

Rhabdomyosarcoma

MedGen UID:
505375
Concept ID:
CN002584
Finding
15.

DICER1-related pleuropulmonary blastoma cancer predisposition syndrome

DICER1 -related disorders are a familial tumor susceptibility syndrome that confers increased risk most commonly for pleuropulmonary blastoma (PPB); ovarian sex cord-stromal tumors (Sertoli-Leydig cell tumor [SLCT], juvenile granulosa cell tumor [JGCT], and gynandroblastoma); cystic nephroma (CN); and thyroid gland neoplasia (multinodular goiter [MNG], adenomas, or differentiated thyroid cancer). Less commonly observed tumors are ciliary body medulloepithelioma (CBME); botryoid-type embryonal rhabdomyosarcoma (ERMS) of the cervix or other sites; nasal chondromesenchymal hamartoma (NCMH); renal sarcoma; pituitary blastoma; and pineoblastoma. Novel phenotypes continue to be discovered. The majority of tumors in families with aDICER1germline pathogenic variant occur in individuals younger than age 40 years. PPB, a neoplasm that arises during lung development or shortly after birth, typically presents in infants and children younger than age six years. Age of onset of ovarian sex cord-stromal tumors is not well defined. CN presents in children younger than age four years. [from GeneReviews]

MedGen UID:
449020
Concept ID:
CN072455
Disease or Syndrome
16.

History

The aggregate of past events; the continuum of events occurring in succession leading from the past to the present; a record or narrative description of past events. [from NCI]

MedGen UID:
389153
Concept ID:
C2004062
Finding
17.

Cystic Nephroma

A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid. [from NCI]

MedGen UID:
220422
Concept ID:
C1266138
Neoplastic Process
18.

Neoplasm of ovary

Ovarian cancer, the leading cause of death from gynecologic malignancy, is characterized by advanced presentation with loco-regional dissemination in the peritoneal cavity and the rare incidence of visceral metastases (Chi et al., 2001). These typical features relate to the biology of the disease, which is a principal determinant of outcome (Auersperg et al., 2001). Epithelial ovarian cancer is the most common form and encompasses 5 major histologic subtypes: papillary serous, endometrioid, mucinous, clear cell, and transitional cell. Epithelial ovarian cancer arises as a result of genetic alterations sustained by the ovarian surface epithelium (Stany et al., 2008; Soslow, 2008). [from OMIM]

MedGen UID:
181539
Concept ID:
C0919267
Neoplastic Process
19.

Lung cyst

MedGen UID:
107790
Concept ID:
C0546483
Disease or Syndrome
20.

History of

A record of a patient's background regarding health and the occurrence of disease events of the individual. In addition, personal medical history may be a variable in epidemiologic studies. [from NCI]

MedGen UID:
82657
Concept ID:
C0262926
Finding
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center