Evidence map›Paper›PMID 33515627›Full record

ArticleJournal of the American Academy of Dermatology2022

Next-generation sequencing analysis suggests varied multistep mutational pathogenesis for endocrine mucin-producing sweat gland carcinoma with comments on INSM1 and MUC2 suggesting a conjunctival origin.

Joseph G Mathew, Anita S Bowman, Jad Saab, Klaus J Busam, Kishwer Nehal, Melissa Pulitzer

Open access · greenAbstract read
In one paragraph

Article in Journal of the American Academy of Dermatology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
2.5field-weighted citation impact, top 11% 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

4 citing papers in PubMed, 17 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Review
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

6 authors at 2 institutions in 2 countries.

Joseph G MathewDepartment of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
Anita S BowmanDepartment of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Jad SaabDepartment of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Klaus J BusamDepartment of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Kishwer NehalDepartment of Medicine, Dermatology Division, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Melissa PulitzerDepartment of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA. Electronic address: pulitzem@mskcc.org.
Memorial Sloan Kettering Cancer Center · USMcMaster University · CA

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4M
NCI NIH HHS P30 CA008748
6 · The paper itself

Abstract

Endocrine mucin-producing sweat gland carcinoma is a low-grade eyelid tumor. Small biopsies and insensitive immunohistochemistry predispose to misdiagnosis. We aimed to identify clarifying immunohistochemical markers, molecular markers, or both. Clinicopathologic data (22 cases) were reviewed. Immunohistochemistry (insulinoma-associated protein 1, BCL-2, mucin 2 [MUC2], mucin 4, androgen receptor, β-catenin, and Merkel cell polyomavirus) and next-generation sequencing (Memorial Sloan Kettering integrated mutation profiling of actionable cancer targets, 468 genes) were performed (3 cases). Female patients (n = 15) and male patients (n = 7) (mean age 71.8 years; range 53-88 years) had eyelid or periorbital tumors (>90%) with mucin-containing solid or cystic neuroendocrine pathology. Immunohistochemistry (insulinoma-associated protein 1, BCL2, androgen receptor, retinoblastoma-associated protein 1, and β-catenin) was diffusely positive (5/5), MUC2 partial, mucin 4 focal, and Merkel cell polyomavirus negative. Memorial Sloan Kettering integrated mutation profiling of actionable cancer targets identified 12 single-nucleotide variants and 1 in-frame deletion in 3 cases, each with DNA damage response or repair (BRD4, PPP4R2, and RTEL1) and tumor-suppressor pathway (BRD4, TP53, TSC1, and LATS2) mutations. Microsatellite instability, copy number alterations, and structural alterations were absent. Insulinoma-associated protein 1 and MUC2 are positive in endocrine mucin-producing sweat gland carcinoma. MUC2 positivity suggests conjunctival origin. Multistep pathogenesis involving DNA damage repair and tumor-suppressor pathways may be implicated.

Indexed as

Carcinoma, Skin AppendageInsulinomaMerkel cell polyomavirusPancreatic NeoplasmsSkin NeoplasmsSweat Gland NeoplasmsAgedAged, 80 and overbeta CateninBiomarkers, TumorBromodomain Containing ProteinsCell Cycle ProteinsFemaleHigh-Throughput Nucleotide SequencingHumansMalebeta CateninBiomarkers, TumorBRD4 protein, humanBromodomain Containing ProteinsCell Cycle ProteinsINSM1 protein, humanLATS2 protein, humanMUC2 protein, humanMucin-2Mucin-4MucinsNuclear ProteinsProtein Serine-Threonine KinasesReceptors, AndrogenRepressor ProteinsTranscription FactorsTumor Suppressor Proteins

Identifiers

PMID33515627
PMCPMC9627720
OpenAlexW3121795825

What OpenQuestion holds

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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.