TRAF7 mutations and immunohistochemical study of uterine adenomatoid tumor compared with malignant mesothelioma

Itami, Hiroe; Fujii, Tomomi; Nakai, Tokiko; Takeda, Maiko; Kishi, Yohei; Taniguchi, Fumiaki; Terada, Chiyoko; Okada, Fumi; Nitta, Yuji; Matsuoka, Minami; Sasaki, Shoh; Sugimoto, Sumire; Uchiyama, Tomoko; Morita, Kenichi; Kasai, Takahiko; Kawaguchi, Ryuji; Ohbayashi, Chiho

doi:10.1016/j.humpath.2021.02.007

Cited by 10 publications

(9 citation statements)

References 26 publications

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“…The original publication reporting results with this clone 7 found that SKM9-2 did not react with any of 98 pulmonary carcinomas, while positive membrane staining was seen in 108 of 112 (96%) epithelioid and biphasic mesotheliomas. Two subsequent studies from other laboratories 8,9 described similar results comparing mesotheliomas and lung carcinomas (Table 1), and one additional study 10 reported only mesothelioma data. In Table 1 we have also included new data from our laboratory.…”

Section: H E Gmentioning

confidence: 66%

Hypothesis: HEG1 and claudin‐4 staining will allow a diagnosis of epithelioid and biphasic mesothelioma versus non‐small‐cell lung carcinoma with only two stains in most cases

Churg

Naso

2022

Histopathology

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Hypothesis: HEG1 and claudin-4 staining will allow a diagnosis of epithelioid and biphasic mesothelioma versus non-small-cell lung carcinoma with only two stains in most cases Separation of mesothelioma from metastatic carcinoma requires immunohistochemical support, with small batteries of stains recommended as a startingpoint, but these numbers commonly expand to 10, 12 or more stains, a process that is not only expensive but frequently generates anomalous or confounding results, leading to even more stains. Here we review data on HEG1 clone SKM9-2, a new (now commercially available) mesothelioma marker and claudin-4, a broad-spectrum carcinoma marker, to ask whether these two stains are sufficient, by themselves, to separate mesotheliomas from non-small-cell lung (NSCLC) as well as other carcinomas. Data for HEG1, derived from four laboratories, showed membrane staining in 393 of 434 (91%) epithelioid/biphasic mesotheliomas and one of 360 (0.3%) NSCLC (sensitivity 91%, specificity 99.7%). Reports from seven laboratories evaluating claudin-4 in NSCLC showed positivity in 469 of 502 (93%) carcinomas and weak positivity in five of 463 (1.0%) epithelioid/ biphasic mesotheliomas (sensitivity 93%, specificity 98.9%). Comparable results were found with carcinomas from other sites, except for serous and thyroid carcinomas, some of which react with HEG1 but are also positive for claudin-4. For sarcomatoid mesotheliomas, HEG1 sensitivity is modest and staining sometimes difficult to interpret. We hypothesise that the combination of HEG1 and claudin-4 immunostaining will potentially allow the separation of epithelioid/ biphasic mesotheliomas from NSCLC carcinomas with high accuracy using only two immunostains in most cases. This combination will probably also work for carcinomas from most other sites, but more reports on HEG1 SKM9-2 staining of carcinomas other than NSCLC are needed. This approach would greatly simplify the diagnosis of mesothelioma.

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Section: H E Gmentioning

confidence: 66%

Hypothesis: HEG1 and claudin‐4 staining will allow a diagnosis of epithelioid and biphasic mesothelioma versus non‐small‐cell lung carcinoma with only two stains in most cases

Churg

Naso

2022

Histopathology

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“…The tumor was thought to be an adenomatoid tumor or adenomatoid mesothelioma. Several reports indicate that adenomatoid tumors are defined by TRAF7 mutation; therefore, we examined TRAF7 hot-spot mutations, including codons 519, 521, 538, 561, and 577, using Sanger sequencing [ 6 , 7 ]. TRAF7 mutations were not detected.…”

Section: Discussionmentioning

confidence: 99%

Adenomatoid mesothelioma arising from the diaphragm: a case report and review of the literature

et al. 2022

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Background Adenomatoid mesothelioma is a rare subtype of malignant mesothelioma that can be confused with adenomatoid tumors, which are classified as benign. The clinical features and optimal management of adenomatoid mesothelioma have not been elucidated in the literature. In this report, we present an extremely rare case of adenomatoid mesothelioma that developed on the peritoneal surface of the diaphragm as well as a literature review of adenomatoid mesothelioma in the abdominal cavity. Case presentation The patient was a 61-year-old Japanese woman who had undergone resection of a malignant peripheral nerve sheath tumor of the hand 18 years prior. She was diagnosed with clinical stage I lung adenocarcinoma on follow-up chest radiography. Simultaneously, a 20-mm enhancing nodule with slow growth on the right diaphragm was detected on contrast-enhanced computed tomography. She presented no specific clinical symptoms. At this point, the lesion was suspected to be a hypervascular tumor of borderline malignancy, such as a solitary fibrous tumor. After a left upper lobectomy for lung adenocarcinoma, she was referred to our department, and laparoscopic tumor resection was performed. Adenomatoid tumors were also considered based on the histopathological and immunohistochemical analyses, but we made the final diagnosis of adenomatoid mesothelioma using the results of the genetic profile. The patient remains alive, with no recurrence noted 6 months after surgery. Conclusion We encountered a valuable case of adenomatoid mesothelioma of peritoneal origin. There are some previously reported cases of adenomatoid mesothelioma and adenomatoid tumors that may need to be recategorized according to the current classification. It is important to accumulate and share new findings to clarify the clinicopathological characteristics and genetic status of adenomatoid mesothelioma.

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“…19 More recent molecular studies of adenomatoid tumours have identified TRAF7 mutations, although the frequency in the few studies evaluating this alteration has ranged significantly from 8 to 100% of cases. [19][20][21] The first adenomatoid tumour involving the gastrointestinal tract was reported by Craig et al in 1979, in which they described a 2-cm nodule within the small intestinal mesentery that was incidentally discovered at the time of laparotomy. In this case report, the nodule was initially misclassified as a metastatic adenocarcinoma.…”

Section: Discussionmentioning

confidence: 99%

“…Another study evaluating uterine adenomatoid tumours found block‐like positivity for p16 in >90% of their cases 19 . More recent molecular studies of adenomatoid tumours have identified TRAF7 mutations, although the frequency in the few studies evaluating this alteration has ranged significantly from 8 to 100% of cases 19–21 …”

Section: Discussionmentioning

confidence: 99%

Adenomatoid tumours of the gastrointestinal tract – a case‐series and review of the literature

et al. 2021

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Adenomatoid tumours of the gastrointestinal tracta case-series and review of the literature Aims: Adenomatoid tumours are mesothelial-derived benign neoplasms with a predilection for the genital tract. Extragenital sites are rare and can cause significant diagnostic challenges. Herein, we describe the clinicopathological features of a cohort of adenomatoid tumours involving the gastrointestinal tract and liver in order to more clearly characterise their histological findings and aid in diagnosis. Methods and results:The pathology databases at four institutions were searched for adenomatoid tumours involving the gastrointestinal tract or liver, yielding eight cases. Available clinicoradiological and followup data were collected from the medical records. Six tumours were incidentally discovered during imaging studies or at the time of surgical exploration for unrelated conditions; presenting symptoms were unknown in two patients. Histologically, the tumours were well-circumscribed, although focal illdefined borders were present in four cases. No infiltration of adjacent structures was identified.Architectural heterogeneity was noted in five (63%) tumours; an adenoid pattern often predominated. The neoplastic cells were flattened to cuboidal with eosinophilic cytoplasm. Cytoplasmic vacuoles mimicking signet ring-like cells were present in five (63%) cases. Three (38%) cases showed involvement of the mesothelium with reactive mesothelial hyperplasia. Cytological atypia or increased mitotic activity was not identified. The surrounding stroma ranged from oedematous/myxoid to densely hyalinised. Immunohistochemistry confirmed mesothelial origin in all cases evaluated. No patients developed recurrence of disease. Conclusions: The current study evaluates the clinicopathological findings in a collective series of gastrointestinal and hepatic adenomatoid tumours, correlating with those described in individually reported cases. We highlight common histological features and emphasise variable findings that could mimic a malignant neoplasm.

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TRAF7 mutations and immunohistochemical study of uterine adenomatoid tumor compared with malignant mesothelioma

Cited by 10 publications

References 26 publications

Hypothesis: HEG1 and claudin‐4 staining will allow a diagnosis of epithelioid and biphasic mesothelioma versus non‐small‐cell lung carcinoma with only two stains in most cases

Hypothesis: HEG1 and claudin‐4 staining will allow a diagnosis of epithelioid and biphasic mesothelioma versus non‐small‐cell lung carcinoma with only two stains in most cases

Adenomatoid mesothelioma arising from the diaphragm: a case report and review of the literature

Adenomatoid tumours of the gastrointestinal tract – a case‐series and review of the literature

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