Aggressive prolactinoma in a child related to germline mutation in the ARYL hydrocarbon receptor interacting protein

Related Experiment Video

Updated: Jun 4, 2026

A Protocol for Rapid Post-mortem Cell Culture of Diffuse Intrinsic Pontine Glioma (DIPG)
08:46

A Protocol for Rapid Post-mortem Cell Culture of Diffuse Intrinsic Pontine Glioma (DIPG)

Published on: March 7, 2017

Luciana Ansaneli Naves1, Marie-Lise Jaffrain-Rea, Sergio Alberto Cunha Vêncio

  • 1Endocrinology Unit, Universidade de Brasília, DF, Brazil. draluciananaves@gmail.com

Arquivos Brasileiros De Endocrinologia E Metabologia
|February 23, 2011
PubMed

Insights

A familial screening identified a pituitary tumor gene mutation (AIP) in a child with aggressive prolactinoma. This AIP gene mutation may predispose young patients to developing aggressive pituitary adenomas.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatric Oncology

Background:

  • Pituitary adenomas are rare in children, and aggressive forms present unique challenges.
  • Familial screening for genetic predispositions is crucial for understanding tumor pathogenesis.

Observation:

  • A 12-year-old boy presented with a large, aggressive pituitary macroadenoma causing visual deficits and hormonal imbalances.
  • The tumor showed resistance to standard treatment (cabergoline), necessitating multiple surgeries and radiotherapy.
  • Immunohistochemical analysis and genomic DNA sequencing were performed on the patient and 48 relatives.

Findings:

  • A germline A195V mutation in the Aryl hydrocarbon receptor-Interacting Protein (AIP) gene was identified in the patient.
  • The same AIP mutation was found in five asymptomatic relatives, suggesting a hereditary predisposition.
  • This mutation was linked to the aggressive nature of the prolactinoma in the pediatric patient.

Implications:

  • Germline AIP mutations may play a significant role in the development of aggressive pituitary adenomas in young individuals.
  • Identifying AIP mutations can aid in early diagnosis and risk assessment for familial pituitary tumor syndromes.
  • Understanding the genetic basis of aggressive pituitary tumors can inform targeted therapeutic strategies.

More Related Videos

Aip1p Dynamics Are Altered by the R256H Mutation in Actin08:57

Aip1p Dynamics Are Altered by the R256H Mutation in Actin

Published on: July 30, 2014

Wild-type Blocking PCR Combined with Sanger Sequencing for Detection of Low-frequency Somatic Mutation07:17

Wild-type Blocking PCR Combined with Sanger Sequencing for Detection of Low-frequency Somatic Mutation

Published on: August 23, 2024

Related Concept Videos

PI3K/mTOR/AKT Signaling Pathway01:22

PI3K/mTOR/AKT Signaling Pathway

The mammalian target of rapamycin  (mTOR) is a serine/threonine kinase that regulates growth, proliferation, and cell survival in response to hormones, growth factors, or nutrient availability. This kinase exists in two structurally and functionally distinct forms: mTOR complex 1  (mTORC1) and mTOR complex 2  (mTORC2). The first form (mTORC1) is composed of a rapamycin-sensitive Raptor and proline-rich Akt substrate, PRAS40. In contrast,  mTORC2 consists of a rapamycin-insensitive companion...
Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
mTOR Signaling and Cancer Progression03:03

mTOR Signaling and Cancer Progression

The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...