MyMedR

Displaying all 5 publications

Abstract:

Sort:

Primary anorectal malignant melanoma: A clinical, radiology and pathology correlation

Bohan S, Ramli Hamid MT, Poh KS, Chow TK, Chan WY

Malays J Pathol, 2020 Dec;42(3):461-467.
PMID: 33361730

INTRODUCTION: Primary gastrointestinal melanomas are mucosal malignancies that arise from melanocytes in the oropharynx, rectum, and anus. Anorectal malignant melanoma (ARMM) are exceedingly rare, accounting for less than 1% of all melanomas, 0.1% of all rectal malignancies and 4% of anal malignancies. Diagnosis is frequently delayed as these lesions are often mistaken for haemorrhoids. Histological evaluation with special immunohistochemical stains is often necessary for definitive diagnosis. Due to the aggressive nature, 61% of patients with ARMM would already have lymph node involvement or distant metastases, by the time of diagnosis. Prognosis is usually poor with 5-year survival rate of <20%. We report a case of metastatic ARMM in an elderly lady who presented with symptoms and signs mimicking a haemorrhoid.
CASE REPORT: A 69-year-old lady presented with one year history of intermittent rectal bleed and an anorectal mass that was initially treated as haemorrhoid. Colonoscopy showed a hyperpigmented mass in the anorectal region which was confirmed as malignant melanoma on histopathological examination. Imaging with CT and MRI demonstrated locally advanced tumour with distant metastases to the liver and lung. Patient was referred for palliative management.
CONCLUSION: ARMM is a rare malignancy and often presented with non-specific clinical signs. Diagnosis is frequently delayed without high index of suspicion. MRI pelvis is the imaging of choice to assess local extent of disease. Histologic evaluation with special immunohistochemical stains is often necessary for definitive diagnosis. Prognosis is poor despite surgical and chemotherapeutic interventions.

Matched MeSH terms: Anus Neoplasms/pathology*
Extramammary Paget's disease presenting as condylomata lata

Mohammed KN

Int J STD AIDS, 1993 Jul-Aug;4(4):242-3.
PMID: 8399509
Matched MeSH terms: Anus Neoplasms/pathology*
Locally advanced anourological verrucous carcinoma: a multidisciplinary approach

Koh PS, Roslani AC, Leow M, Ng CL, Lee GE

Tech Coloproctol, 2009 Mar;13(1):101.
PMID: 19288239 DOI: 10.1007/s10151-009-0464-8
Matched MeSH terms: Anus Neoplasms/pathology
Anorectal melanoma

Jalleh RP, Pathmanathan R, Krishnan MM, Mukherjee A

Postgrad Med J, 1988 Sep;64(755):669-71.
PMID: 3251217

Four cases of anorectal melanoma are presented. The authors believe that this is the first report of the occurrence of this tumour in Malays. Advanced disease at initial presentation accounts for the poor prognosis observed in this series. Surgery remains the principal treatment modality, although controversy exists regarding optimal extent of resection.

Matched MeSH terms: Anus Neoplasms/pathology
Fulltext Molecular and genomic characterisation of a panel of human anal cancer cell lines

Guerra GR, Kong JC, Millen RM, Read M, Liu DS, Roth S, et al.

Cell Death Dis, 2021 Oct 18;12(11):959.
PMID: 34663790 DOI: 10.1038/s41419-021-04141-5

Anal cancer is a rare disease that has doubled in incidence over the last four decades. Current treatment and survival of patients with this disease has not changed substantially over this period of time, due, in part, to a paucity of preclinical models to assess new therapeutic options. To address this hiatus, we set-out to establish, validate and characterise a panel of human anal squamous cell carcinoma (ASCC) cell lines by employing an explant technique using fresh human ASCC tumour tissue. The panel of five human ASCC cell lines were validated to confirm their origin, squamous features and tumourigenicity, followed by molecular and genomic (whole-exome sequencing) characterisation. This panel recapitulates the genetic and molecular characteristics previously described in ASCC including phosphoinositide-3-kinase (PI3K) mutations in three of the human papillomavirus (HPV) positive lines and TP53 mutations in the HPV negative line. The cell lines demonstrate the ability to form tumouroids and retain their tumourigenic potential upon xenotransplantation, with varied inducible expression of major histocompatibility complex class I (MHC class I) and Programmed cell death ligand 1 (PD-L1). We observed differential responses to standard chemotherapy, radiotherapy and a PI3K specific molecular targeted agent in vitro, which correlated with the clinical response of the patient tumours from which they were derived. We anticipate this novel panel of human ASCC cell lines will form a valuable resource for future studies into the biology and therapeutics of this rare disease.

Matched MeSH terms: Anus Neoplasms/pathology*