Evidence map›Paper›PMID 34169220›Full record

ArticleJournal of the Endocrine Society2021

A Novel, Likely Pathogenic

César Ernesto Lam-Chung, Larissa López Rodríguez, Jazmín Arteaga Vázquez, Yanin Chávarri-Guerra, Rebeca Arízaga-Ramírez, Orlando Falcon Antonio, Jazmín De Anda González, María Aurelia López-Hernández, Jeffrey N Weitzel, Danielle Castillo and 2 more

Open access · goldAbstract read
In one paragraph

Article in Journal of the Endocrine Society, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
0.4field-weighted citation impact, top 38% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.

  1. Multiple Endocrine Neoplasia Type 5 due to Germline MAX Mutations: A Systematic Review of Tumor Spectrum and Clinical Features.Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2026
    Pooled it
  2. Genotype and clinical phenotype characteristics ofFrontiers in endocrinology · 2024
    Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 2 institutions in 2 countries.

César Ernesto Lam-ChungNeuroendocrinology Clinic, Department of Endocrinology and Metabolism, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan 14000, Mexico City, Mexico.ORCID https://orcid.org/0000-0003-2156-3753
Larissa López RodríguezDepartment of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan 14000, Mexico City, Mexico.
Jazmín Arteaga VázquezDepartment of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan 14000, Mexico City, Mexico.
Yanin Chávarri-GuerraDepartment of Hemato-Oncology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan 14000, Mexico City, Mexico.
Rebeca Arízaga-RamírezDepartment of Pathology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan 14000, Mexico City, Mexico.
Orlando Falcon AntonioDepartment of Pathology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan 14000, Mexico City, Mexico.
Jazmín De Anda GonzálezDepartment of Pathology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan 14000, Mexico City, Mexico.
María Aurelia López-HernándezDepartment of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan 14000, Mexico City, Mexico.
Jeffrey N WeitzelCity of Hope Cancer Center, Duarte, California 91010, USA.
Danielle CastilloCity of Hope Cancer Center, Duarte, California 91010, USA.
Francisco Javier Gómez-PérezNeuroendocrinology Clinic, Department of Endocrinology and Metabolism, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan 14000, Mexico City, Mexico.
Daniel Cuevas-RamosNeuroendocrinology Clinic, Department of Endocrinology and Metabolism, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan 14000, Mexico City, Mexico.ORCID https://orcid.org/0000-0001-6330-670X
Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán · MXCity of Hope · US

Funding

Clinical Cancer Genetics Community Network: A Sustainable Research PartnershipRC4CA153828 · NCI · BECKMAN RESEARCH INSTITUTE/CITY OF HOPE · PI WEITZEL, JEFFREY N · 2010 to 2010
$1.0M
NCI NIH HHS RC4 CA153828
6 · The paper itself

Abstract

contextInherited MYC-associated factor X (

objectiveThis report highlights an important approach.

methodsClinical assessment, including blood chemistry, imaging studies, and genetic testing were performed.

resultsA 38-year-old Hispanic woman was diagnosed with PCC in 2015, treated with adrenalectomy, and referred to endocrinology clinic. Notably, she presented to her primary care physician 3 years earlier complaining of left flank pain, intermittent diaphoresis, and holocranial severe headache. We confirmed severe hypertension (180/100 mm Hg) over multiple antihypertensive regimens. Biochemical and radiological studies workup revealed high plasma metanephrine of 255 pg/mL (normal range, < 65 pg/mL) and plasma normetanephrine of 240 pg/mL (normal range, < 196 pg/mL). A noncontrast computed tomography scan of the abdomen revealed a 4.2 × 4.3 × 4.9-cm, round-shaped and heterogenous contrast enhancement of the left adrenal gland, and a 2-mm nonobstructive left kidney stone. A presumptive diagnosis of secondary hypertension was made. After pharmacological therapy, laparoscopic left adrenalectomy was performed and confirmed the diagnosis of pheochromocytoma. Based on her age, family history, and a high suspicion for genetic etiology, genetic testing was performed that revealed the presence of a novel likely pathogenic variant involving a splice consensus sequence in the

conclusionThe phenotype of

Indexed as

adrenalhypertensionMAX geneparagangliomapheochromocytoma

Identifiers

PMID34169220
PMCPMC8218934
OpenAlexW3166372946

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.