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All pathology briefings

The edition · Pathology

Mismatch repair staining is worth adding for three sarcoma types, a case series argues

Deficiency was found in about 1 in 20 uterine leiomyosarcomas and some pleomorphic sarcomas, with Lynch syndrome and immunotherapy at stake. A living guideline keeps salivary tests for oral cancer out of routine use, and self-collected swabs matched clinician samples for detecting CIN2+.

The edition in brief

A US series of 39 mismatch repair-deficient sarcomas found deficiency in 1.2% of 1,531 sequenced sarcomas overall, but more often in uterine leiomyosarcoma (5.6%), undifferentiated or unclassified pleomorphic sarcoma (2.3%) and pleomorphic rhabdomyosarcoma; eight tumours were the first cancer in patients with Lynch syndrome, and some responded completely to checkpoint inhibitors. The authors propose routine MMR immunohistochemistry for these types and any sarcoma with a Lynch history; this is a proposal from a retrospective series, not a guideline. A US living guideline on early detection of oral squamous cell carcinoma limits commercial salivary adjunct tests to research, and keeps a clinical oral examination for all adults and biopsy or referral for persistent mucosal lesions. An Australian VALHUDES evaluation in 400 colposcopy attenders found self-collected vaginal swabs as sensitive as practitioner cervical samples for CIN2+ on two PCR HPV assays, with lower specificity. A Canadian laboratory used an amplicon NGS panel to call glioma copy number changes, matching FISH in a 39-case validation and cutting FISH requests by 90% in practice. A UK breast screening EQA review found expert agreement below 80% in 5.7% of cases, mostly atypical and papillary lesions. The pearl covers MLH1 loss and methylation testing.

In this edition
01
Clinical update

Salivary tests for oral cancer stay in research; examination and biopsy stay the standard

Keep salivary adjunct tests for oral cancer out of routine use; examine every adult's mouth and biopsy persistent lesions.

1 min · Journal of the American Dental Association (1939)Read →
Primary outcome
Recommendations on salivary adjunct tests for early oral cancer detection
Effect
Research-only recommendations for both uses; oral examination for all adults; biopsy or referral for persistent lesions
02Research

Self-collected vaginal swabs matched clinician cervical samples for CIN2+ on two PCR HPV tests

Self-collected vaginal swabs can be used with validated PCR HPV assays, with capacity planned for more positive results.

1 min · The Journal of molecular diagnostics : JMDRead →
03Research

An NGS panel called glioma copy number changes in agreement with FISH and cut FISH by 90%

Consider validating copy number calling on your NGS panel for glioma, keeping reflex FISH for equivocal results.

1 min · The Journal of molecular diagnostics : JMDRead →
04Research

Expert breast pathologists disagreed on about 1 in 18 EQA cases, mostly atypical and papillary lesions

Treat atypical and papillary breast lesions at category boundaries as cases for a second opinion and explicit wording of uncertainty.

1 min · HistopathologyRead →
05Pearl

MLH1 and PMS2 loss needs a methylation or BRAF check before a Lynch referral

Add methylation or BRAF testing to MLH1 and PMS2 loss before suggesting Lynch syndrome, and refer other loss patterns to genetics.

1 minRead →
06
Practice changer

About 1 in 20 uterine leiomyosarcomas were mismatch repair deficient in a large sequencing database

Consider adding MMR immunohistochemistry to uterine leiomyosarcoma, pleomorphic rhabdomyosarcoma and undifferentiated pleomorphic sarcoma.

2 min · The American journal of surgical pathologyRead →
Primary outcome
Prevalence of MMR deficiency by sarcoma type; histology and outcome
Effect
1.2% overall; uterine leiomyosarcoma 5.6%; undifferentiated pleomorphic 2.3%; 8 index cancers in Lynch syndrome

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