©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessPituitary tumors, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for pituitary tumors comprising 11 or 25 curated genes according to the clinical signs

ID
HP1730
Number of genes
24 Accredited laboratory test
Examined sequence length
15,8 kb (Core-/Core-canditate-Genes)
52,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
AIP993NM_003977.4AD
CDKN1B597NM_004064.5AD, Sus
GNAS1185NM_000516.7AD
GPR1011527NM_054021.2XL
MEN11833NM_130799.2AD
PRKAR1A1146NM_002734.5AD
SDHB843NM_003000.3AD
SDHC510NM_003001.5AD
SDHD480NM_003002.4AD
USP483259NM_001032730.3AD
USP83357NM_005154.5AR
CDH2310065NM_022124.6AR
CDKN1A495NM_078467.3AD
CDKN2B417NM_004936.4AD
CDKN2C507NM_001262.3AD
DICER15769NM_177438.3AD, Sus
MAX483NM_002382.5AD
MLH12271NM_000249.4AD
MSH22805NM_000251.3AD
MSH64083NM_000179.3AD
PMS22589NM_000535.7AD
PRKACB1423NM_001242857.3AD
RET3345NM_020975.6AD
SDHA1995NM_004168.4AR, AD

Informations about the disease

Clinical Comment

Pituitary adenomas (PAs) are common lesions in adults, occurring in 15-20% of radiologic findings. On imaging in children, these tumors are rare (0.2%). Although most PAs identified are incidental findings with no need for intervention, some are clinically relevant, because they secrete hormones or cause symptoms by compression or invasion of surrounding tissue. The etiology of PAs is diverse, with no known genetic causes for more than half of the PAs. In certain cases, germline or somatic genetic defects are associated with the development of PAs. Defined as a (distant) metastasis of a PA, pituitary carcinoma (PC) is a rare form of malignant intracranial neoplasm. The incidence of PC is low, with only 0.1-0.2% of PAs developing into PCs; the prognosis remains very poor. The lack of efficacy of current therapies is largely due to the limited understanding of the molecular pathogenesis of PAs and their malignant transformation into PCs. The DNA diagnostic yield is probably comparatively low and currently unknown overall, so that a clinical diagnosis can by no means be ruled out by a negative molecular genetic result.

References: https://www.ncbi.nlm.nih.gov/books/NBK97965/

doi: 10.3390/jcm9010030

 

Synonyms
  • Allelic: ACTH-independent macronodular adrenal hyperplasia (GNAS)
  • Allelic: Acrodysostosis 1, with/-out hormone resistance (PRKAR1A)
  • Allelic: Adenocarcinoma of lung, somatic (BRAF)
  • Allelic: Adrenal adenoma, somatic (MEN1)
  • Allelic: Adrenocortical carcinoma, pediatric (TP53)
  • Allelic: Adrenocortical tumor, somatic (PRKAR1A)
  • Allelic: Angiofibroma, somatic (MEN1)
  • Allelic: Basal cell carcinoma 7 (TP53)
  • Allelic: Bone marrow failure syndrome 5 (TP53)
  • Allelic: Breast cancer, somatic (PIK3CA)
  • Allelic: Breast cancer, somatic (TP53)
  • Allelic: CLAPO syndrome, somatic (PIK3CA)
  • Allelic: CLOVE syndrome, somatic (PIK3CA)
  • Allelic: Carcinoid tumor of lung (MEN1)
  • Allelic: Cardiofaciocutaneous syndrome (BRAF)
  • Allelic: Cardiomyopathy, dilated, 1GG (SDHA)
  • Allelic: Central hypoventilation syndrome, congenital (RET)
  • Allelic: Choroid plexus papilloma (TP53)
  • Allelic: Colorectal cancer (TP53)
  • Allelic: Colorectal cancer, hereditary nonpolyposis, type 1 (MSH2)
  • Allelic: Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
  • Allelic: Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
  • Allelic: Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
  • Allelic: Colorectal cancer, somatic (BRAF)
  • Allelic: Colorectal cancer, somatic (PIK3CA)
  • Allelic: Cowden syndrome 5 (PIK3CA)
  • Allelic: Deafness, AR 12 (CDH23)
  • Allelic: Endometrial cancer, familia (MSH6)
  • Allelic: GLOW syndrome, somatic mosaic (DICER1)
  • Allelic: Gastric cancer, somatic (PIUK3CA)
  • Allelic: Gastrointestinal stromal tumor (SDHB)
  • Allelic: Gastrointestinal stromal tumor (SDHC)
  • Allelic: Glioma susceptibility 1 (TP53)
  • Allelic: Goiter, multinodular 1, with/-out Sertoli-Leydig cell tumors (DICER1)
  • Allelic: Hepatocellular carcinoma, somatic (PIK3CA)
  • Allelic: Hepatocellular carcinoma, somatic (TP53)
  • Allelic: Hirschsprung disease, protection against (RET)
  • Allelic: Hirschsprung disease, susceptibility to, 1 (RET)
  • Allelic: Keratosis, seborrheic, somatic (PIK3CA)
  • Allelic: LEOPARD syndrome 3 (BRAF)
  • Allelic: Li-Fraumeni syndrome (TP53)
  • Allelic: Lipoma, somatic (MEN1)
  • Allelic: Macrodactyly, somatic (PIK3CA)
  • Allelic: McCune-Albright syndrome, somatic, mosaic (GNAS)
  • Allelic: Medullary thyroid carcinoma (RET)
  • Allelic: Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic (PIK3CA)
  • Allelic: Melanoma, malignant, somatic (BRAF)
  • Allelic: Mismatch repair cancer syndrome 1 (MLH1)
  • Allelic: Mismatch repair cancer syndrome 2 (MSH2)
  • Allelic: Mismatch repair cancer syndrome 3 (MSH6)
  • Allelic: Mismatch repair cancer syndrome 4 (PMS2)
  • Allelic: Mitochondrial complex II deficiency, nuclear type 1 (SDHA)
  • Allelic: Mitochondrial complex II deficiency, nuclear type 3 (SDHD)
  • Allelic: Muir-Torre syndrome (MLH1, MSH2, )
  • Allelic: Myxoma, intracardiac (PRLAR1A)
  • Allelic: Nasopharyngeal carcinoma, somatic (TP53)
  • Allelic: Nevus, epidermal, somatic (PIUK3CA)
  • Allelic: Nonsmall cell lung cancer, somatic (BRAF)
  • Allelic: Nonsmall cell lung cancer, somatic (PIK3CA)
  • Allelic: Noonan syndrome 7 (BRAF)
  • Allelic: Osseous heteroplasia, progressive (GNAS)
  • Allelic: Osteosarcoma (TP53)
  • Allelic: Ovarian cancer, somatic (PIK3CA)
  • Allelic: Pancreatic cancer, somatic (TP53)
  • Allelic: Paraganglioma + gastric stromal sarcoma (SDHB, SDHC, SDHD)
  • Allelic: Paragangliomas 1, with/-out deafness (SDHD)
  • Allelic: Paragangliomas 3 (SDHC)
  • Allelic: Paragangliomas 4 (SDHB)
  • Allelic: Paragangliomas 5 (SDHA)
  • Allelic: Parathyroid adenoma, somatic (MEN1)
  • Allelic: Pheochromocytoma (RET)
  • Allelic: Pheochromocytoma (SDHB)
  • Allelic: Pheochromocytoma (SDHD)
  • Allelic: Pheochromocytoma, susceptibility to (MAX)
  • Allelic: Pigmented nodular adrenocortical disease, primary, 1 (PRKAR1A)
  • Allelic: Pleuropulmonary blastoma (DICER1)
  • Allelic: Pseudohypoparathyroidism Ia-c (GNAS)
  • Allelic: Pseudopseudohypoparathyroidism (GNAS)
  • Allelic: Rhabdomyosarcoma, embryonal, 2 (DICER1)
  • Allelic: Usher syndrome, type 1D (CDH23)
  • Allelic: Usher syndrome, type 1D/F digenic (CDH23)
  • Acromegaly due to pituitary adenoma 1, included
  • Allelic: Non-syndromic hearing loss (USP48)
  • Cardioacrofacial dysplasia 2 (PRKACB)
  • Carney complex, type 1; 80% somatotroph cell hyperplasia or small pituitary adenoma (PRKAR1A)
  • DICER1 syndrome (DICER1)
  • Hereditary paraganglioma-pheochromocytoma syndromes, rarely pituitary disease (MAX, SDHA-D, RET)
  • Isolated familial somatotropinoma, included
  • Lynch syndrome; rarely pituitary disease (MLH1, MSH2, MSH6, PMS2)
  • MEN1-like syndrome; 40% pituitary tumors, mostly somatotropnomas (CDKN1A, CDKN1B, CDKN2B, CDKN2C)
  • McCune-Albright syndrome; 30% pituitary disease, GH-adenomas, prolactiemia (GNAS)
  • Multiple endocrine neoplasia, type I; 40% pituitary tumors, mostly prolactinomas (MEN1)
  • Multiple endocrine neoplasia, type IV (CDKN1B)
  • Multiple endocrine neoplasia, types IIA + IIB (RET)
  • Nonsyndromic genetic deafness, MONDO:0019497 (USP48)
  • Pituitary adenoma 1, multiple types (AIP)
  • Pituitary adenoma 2, GH-secreting (GPR101)
  • Pituitary adenoma 3, multiple types, somatic (GNAS)
  • Pituitary adenoma 4, ACTH-secreting, somatic (USP8)
  • Pituitary adenoma 5, multiple types (CDH23)
  • Pituitary adenoma predisposition (AIP)
  • Pituitary adenoma predisposition (USP8)
  • Somatotrophinoma, familial, included
Heredity, heredity patterns etc.
  • AD
  • AR
  • Sus
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined