IllnessPituitary tumors, differential diagnosis

NGS +

[Sanger]

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

• 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