Klinische FragestellungHypophysen-Tumore, Differentialdiagnose

NGS +

[Sanger]

Hypophysenadenome (HAs) sind häufige Läsionen bei Erwachsenen, die in 15-20% der radiologischen Befunde auftreten. In der Bildgebung bei Kindern sind diese Tumore selten (0,2 %). Obwohl es sich bei den meisten identifizierten HAs um Zufallsbefunde ohne Interventionsbedarf handelt, sind einige klinisch relevant, da sie Hormone sezernieren oder durch Kompression oder Invasion in umliegendes Gewebe Symptome verursachen. Die Ätiologie der HAs ist vielfältig, für mehr als die Hälfte der HAs sind keine genetischen Ursachen bekannt. In bestimmten Fällen sind Keimbahn- oder somatische Gendefekte mit der Entwicklung von HAs assoziiert. Als (Fern-)Metastase eines HAs definiert ist das Hypophysen-Karzinom (HK) eine seltene Form eines malignen intrakraniellen Neoplasmas. Die HK-Inzidenz ist gering, nur 0,1-0,2 % der HAs entwickeln sich zu HKs; die Prognose ist sehr schlecht. Die mangelnde Wirksamkeit aktueller Therapien ist weitgehend auf das begrenzte Verständnis der molekularen Pathogenese von HAs und ihrer malignen Transformation in HKs zurückzuführen. Die DNA-diagnostische Ausbeute ist vergleichsweise wohl gering und derzeit insgesamt nicht bekannt, sodass eine klinische Diagnose durch ein negatives molekulargenetisches Ergebnis keinesfalls ausgeschlossen werden kann.

Referenzen: 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