A case of a 22-year-old man with primary synovial sarcoma of the parapharyngeal space with an AR somatic mutation: A case report and review of the literature

This case report describes a 22-year-old man with a pharyngeal foreign body sensation arising from the left side of the postpharyngeal wall. Histological examination showed a biphasic pattern of epithelioid and spindle cells including glandular differentiation. The tumour was positive for vimentin and SS18-SSX, and the spindle cells were positive for bcl-2; in contrast, the epithelioid tumour cells were positive for pan-cytokeratin, epithelial membrane antigen and CD99. There was no INI-loss in tumour cells. Then, the presence of the SYT-SSX gene fusion was demonstrated by fluorescence in situ hybridization. In addition, androgen receptor gene somatic mutations were detected by next-generation sequencing. However, 6 months postoperatively, the patient had neither developed a recurrence nor received adjuvant radiotherapy and chemotherapy. Accurate diagnosis depends on morphological and immunohistochemical examination and a proper molecular analysis, and novel technologies can detect a wide variety of genetic alterations. Although androgen receptor somatic mutations cannot provide addition treatment at present, surgical resection with a clean margin and follow-up is an appropriate approach.

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Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report

World Journal of Clinical Cases ◽

10.12998/wjcc.v9.i35.11036 ◽

2021 ◽

Vol 9 (35) ◽

pp. 11036-11042

Author(s):

Ka-Na Wang ◽

Qing-Qing Chen ◽

Yi-Lin Zhu ◽

Chun-Lin Wang

Keyword(s):

Case Report ◽

Androgen Receptor ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

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Somatic mutations at the trinucleotide repeats of androgen receptor gene in male hepatocellular carcinoma

International Journal of Cancer ◽

10.1002/ijc.22479 ◽

2007 ◽

Vol 120 (8) ◽

pp. 1610-1617 ◽

Cited By ~ 14

Author(s):

Shiou-Hwei Yeh ◽

Chi-Ming Chiu ◽

Chi-Ling Chen ◽

Shu-Fen Lu ◽

Hey-Chi Hsu ◽

...

Keyword(s):

Hepatocellular Carcinoma ◽

Androgen Receptor ◽

Somatic Mutations ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Trinucleotide Repeats

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Molecular analysis of the androgen receptor gene in testicular cancer

Endocrine Related Cancer ◽

10.1677/erc.1.00954 ◽

2005 ◽

Vol 12 (3) ◽

pp. 645-655 ◽

Cited By ~ 35

Author(s):

A Garolla ◽

A Ferlin ◽

C Vinanzi ◽

A Roverato ◽

G Sotti ◽

...

Keyword(s):

Androgen Receptor ◽

Testicular Cancer ◽

Novel Mutation ◽

Receptor Gene ◽

Gene Mutations ◽

Genetic Alterations ◽

Androgen Receptor Gene ◽

Joint Analysis ◽

Increased Risk ◽

Exon 1

Testicular cancer (TC) is the most common solid tumour in white males aged 20–34 years, and its incidence has doubled over the past 40 years. Some risk factors for TC have been proposed, such as cryptorchidism, infertility and testicular dysgenesis. However, the causes of TC remain still largely unknown. Recently a genetic basis for TC has been proposed, but specific genetic alterations have not been identified. The risk of TC is markedly increased in subjects with androgen insensitivity and some authors have suggested that mutations in the androgen receptor (AR) gene or disorders of CAG and GGC repeats could be related to TC. However, definitive data have not been produced. In this study, we analysed the AR gene for mutations and CAG and GGC triplets in exon 1 in 123 patients affected by TC. In three patients (2.3%) we found a mutation in the AR gene, two of which represent a novel mutation. Evaluation of CAG and GGC repeat numbers showed no difference with respect to controls when these variables were analysed separately. However, when joint distributions of CAG and GGC were considered, we found that the combination CAG=20/GGC=17 was significantly more frequent in TC patients (8.1%) with respect to controls (1.7%, P<0.05). Furthermore, we observed that in TC subjects, differently from controls, the joint analysis of CAG and GGC showed a statistically significant dependence among these variable repeats. In conclusion, our data show for the first time a high prevalence of AR gene mutations in patients affected by TC and suggest that some CAG/GGC combinations might be more frequently associated with an increased risk of TC.

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Identification of a novel mutation in exon 1 of androgen receptor gene in an azoospermic patient with mild androgen insensitivity syndrome: case report and literature review

Fertility and Sterility ◽

10.1016/j.fertnstert.2011.08.033 ◽

2011 ◽

Vol 96 (5) ◽

pp. 1165-1169 ◽

Cited By ~ 12

Author(s):

Umberto Goglia ◽

Cinzia Vinanzi ◽

Daniela Zuccarello ◽

Davide Malpassi ◽

Pietro Ameri ◽

...

Keyword(s):

Case Report ◽

Androgen Receptor ◽

Literature Review ◽

Novel Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Androgen Insensitivity ◽

Exon 1

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Genetic Alterations of Androgen Receptor Gene in Japanese Human Prostate Cancer

Japanese Journal of Clinical Oncology ◽

10.1093/jjco/27.6.389 ◽

1997 ◽

Vol 27 (6) ◽

pp. 389-393 ◽

Cited By ~ 38

Author(s):

M. Watanabe ◽

T. Ushijima ◽

T. Shiraishi ◽

R. Yatani ◽

J. Shimazaki ◽

...

Keyword(s):

Prostate Cancer ◽

Androgen Receptor ◽

Receptor Gene ◽

Genetic Alterations ◽

Androgen Receptor Gene ◽

Human Prostate ◽

Human Prostate Cancer

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A Case of a 22-year-Old Man with Primary Synovial Sarcoma of the Parapharyngeal Space with an AR Somatic Mutation: A Clinicopathologic Study and Literature Review

10.21203/rs.3.rs-248071/v1 ◽

2021 ◽

Author(s):

He Jiang ◽

Ge Ma ◽

Zunzhen Nie ◽

Jin Zhu ◽

Qingguo Yan ◽

...

Keyword(s):

Synovial Sarcoma ◽

Parapharyngeal Space ◽

Genetic Alterations ◽

Tumour Cells ◽

The Body ◽

Ki 67 ◽

Novel Technologies ◽

Thyroid Transcription Factor 1 ◽

Clinicopathologic Study ◽

Spindle Cells

Abstract Background: Synovial sarcoma (SS) is a rare and aggressive entity that occurs predominantly in young adults. SS can arise in almost any part of the body, especially in the extremities. The incidence of SS in the parapharyngeal space is, however, quite low. Case presentation: Herein, we describe a case of a biphasic SS in the parapharyngeal space. A 22-year-old man presented with a pharyngeal foreign body sensation and underwent excision of the mass with a clear margin. Pathological examinations of the tumour specimen revealed a 1.7×1.5×1.2 cm spherical, well-circumscribed mass arising from the left side of the postpharyngeal wall. Histological examination showed a biphasic pattern of epithelioid and spindle cells, including glandular differentiation. Immunophenotype: Immunohistochemically, the tumour cells were positive for vimentin, and the spindle cells were positive for bcl-2; in contrast, the epithelioid tumour cells were positive for cytokeratin (CK) and epithelial membrane antigen (EMA) and weakly positive for CD99. The tumour cells were scattered positive for SMA. Thyroid transcription factor 1 (TTF-1), thyroglobulin (TG), p63, WT-1 and S100 were negative, and the proliferative index (Ki-67) was found in approximately 70% of the tumour cells. Then, the presence of the SYT-SSX gene fusion was demonstrated by fluorescence in situ hybridization (FISH). In addition, androgen receptor (AR) gene somatic mutations were detected by next-generation sequencing (NGS). Two months postoperatively, the patient had neither developed a recurrence nor received adjuvant radiotherapy and chemotherapy. Conclusions: Accurate diagnosis depends on morphological and immunohistochemical examination and a proper molecular analysis, and novel technologies can detect a wide variety of genetic alterations. The prognosis is relatively good in patients who undergo surgical resection with a clean margin.

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