Translocation of the <i><scp>MAML</scp></i>2 gene in hidradenocarcinoma

Yoshimi, Kosuke; Goto, Hiroyuki; Otsuka, Masaki; Yoshikawa, Shusuke; Omodaka, Toshikazu; Kiyohara, Yoshio

doi:10.1111/1346-8138.13830

Cited by 11 publications

(6 citation statements)

References 3 publications

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“…Cases of hidradenomas have shown to demonstrate CRTC1-MAML2 fusion (50% to 75% of cases), and, more rarely, CRTC3-MAML2 fusions; [32][33][34] however, hidradenocarcinomas can also demonstrate MAML2 rearrangements but with lower frequencies than hidradenomas, while a subset may harbor TP53, AKT1 mutations, and Her2/neu amplification. 6,35 Fusion oncogenes represent unique diagnostic and therapeutic biomarkers due to their expression in specific tumor types.…”

Section: Discussionmentioning

confidence: 99%

Low-grade Hidradenocarcinomas

Plaza

Wakely

Roman

et al. 2023

American Journal of Surgical Pathology

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Hidradenocarcinomas are rare cutaneous adnexal malignancies with sweat gland differentiation that can show a broad spectrum of histomorphologic appearances, ranging from low to high grade. The diagnosis of low-grade hidradenocarcinoma can be challenging and may be mistaken for benign hidradenomas, especially on superficial and partial samples. We performed a retrospective analysis of 16 low-grade hidradenocarcinomas, obtained from 4 large academic institutions. All neoplasms presented clinically as nodular lesions that ranged in size from 1.5 to 6.0 cm. All patients were adults and their age ranged from 33 to 74 years of age. All cases shared features similar to hidradenomas in the surface and mid portion of the tumors and all tumors had 1 or more histomorphologic clues to malignancy, including the presence of an asymmetric and infiltrative growth pattern (especially at the base of the tumors), perineurial invasion, and a desmoplastic stromal reaction. In the tumors evaluated for immunohistochemistry, the tumor cells were positive for p63, EMA, AE1/AE3, MNF116, and CK7. Three patients underwent sentinel lymph node biopsy, and 2 cases showed metastatic disease to regional lymph nodes. All cases (including the 2 cases that had regional lymph node metastasis), showed no local recurrence or distant metastasis observed after a complete re-excision of the tumors (follow-up range from 6 to 72 mo). Our study highlights the salient clinical and histopathologic features of low-grade hidradenocarcinomas and emphasizes the potential diagnostic pitfalls in distinguishing this entity from other neoplasms. Our results indicate that a combination of thorough histopathologic inspection is necessary to support the diagnosis of this rare neoplasm. These tumors can be exceedingly difficult to diagnose and awareness of the subtle features of low-grade hidradenocarcinoma is of importance are as it remains a diagnostic challenge for practicing pathologists.

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Section: Discussionmentioning

confidence: 99%

Low-grade Hidradenocarcinomas

Plaza

Wakely

Roman

et al. 2023

American Journal of Surgical Pathology

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“…So despite aggressive surgical treatment, the tumor has a local frequently recurrence rate and metastases. 5,8 Flurodeoxyglucose positron emission tomography /computed tomography played an invaluable role in the initial staging and follow-up of this rare malignancy. 10 Patient's loss-up is the limitation of this case.…”

Section: Discussionmentioning

confidence: 99%

“…The prognosis for 5-year disease-free survival is poor at <30%. The pathogenesis remained unknown, but it has been suspected that it was related to translocation or mutation of gene, such as mastermind-like transcriptional coactivator 2 translocation 5 and mutations of two potentially targetable gene: PTCH1 and TCF7L1. 6 Diagnosis of these tumors by clinical findings is extremely difficult.…”

Section: Introductionmentioning

confidence: 99%

Malignant Cutaneous Adnexal Tumor in Posterior Occipital Region of a Child: A Case Report

Zhu¹,

Li²,

Long³

et al. 2020

International Journal of Dermatology and Venereology

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Introduction: The most common cutaneous adnexal tumors in children were follicular, especially pilomatricoma, and a few were predominant glandular/ductal differentiation, malignant forms are occasionally encountered. Here, a case of a malignant cutaneous adnexal tumor with eccrine differentiation was reported. Case presentation: A 10-year-old male child was presented with a nodular in posterior occipital for half a year with no symptoms. Histopathology showed there was acanthosis in epidermis, partially with local ulceration and crusting; and in the dermis, there was irregular scattered or agglomerated infiltration of diffused epithelial cells, partly presenting as basaloid, but no obvious peripheral palisading arrangement; and in the center there was extensive necrosis; cellular pleomorphism, scattered mitotic figures, focal clear cell areas, and adenoid differentiation can also be seen, there was scattered infiltration of mixed inflammatory cells in the stroma. Immunohistochemistry showed cytokeratin (CK) 5/6+, CK 8/18+, epithelial membrane antigen +, gata3 transcription factor 3+, cell adhesion15 (focal +), Ki67 (+, 30%), carcinoembryonic antigen (focal+), CK 7 (focal+), gross cystic disease fluid protein-15−, P63+, S-100−. Final diagnosis was the malignant cutaneous adnexal tumor with eccrine differentiation, most likely the nodular clear cell hidradenocarcinoma. The patient has no special discomfort follow-up observation after extended resection and lymph node examination. Discussion: The histopathology showed infiltrative growth pattern, deep extension, necrosis, nuclear pleomorphism, mitoses, desmoplastic stromal reaction and the clear cell area and adenoid differentiation. Immunohistochemistry was positive for CK8/18, EMA, CK5/6, P63, gata3 transcription factor 3 and negative for S-100 and GCDFP-15, some gland-derived markers such as CK7, CEA were focal positive, and we have not found the preexisting benign poroma and porocarcinoma in situ, so we preferred the diagnosis of hidradenocarcinoma. The differential diagnosis such as porocarcinoma, clear cell squamous cell carcinoma, and basal cell carcinoma were taken into account. Conclusion: The diagnosis was challenging by clinical manifestations. Histopathology and immunohistochemistry should be combined with clinical presentation, history to reach the final diagnose.

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“…Molecular biology: Half to 75% of the cases of hidradenoma have CRTC1::MAML2, and, more rarely, CRTC3::MAML2 fusions [50]. Similarly, salivary gland mucoepidermoid carcinoma demonstrates 34-70% of CRTC1::MAML2, and, more rarely, CRTC3::MAML2 fusions [51][52][53].…”

Section: Hidradenomamentioning

confidence: 99%

Recent Advances on Immunohistochemistry and Molecular Biology for the Diagnosis of Adnexal Sweat Gland Tumors

Macagno

Sohier

Kervarrec

et al. 2022

Cancers

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Cutaneous sweat gland tumors are a subset of adnexal neoplasms that derive or differentiate into the sweat apparatus. Their great diversity, rarity, and complex terminology make their pathological diagnosis challenging. Recent findings have revealed a wide spectrum of oncogenic drivers, several of which are of diagnostic interest for pathologists. Most of these molecular alterations are represented by gene fusions, which are shared with other homologous neoplasms occurring in organs containing exocrine glands, such as salivary and breast glands, which show similarities to the sweat apparatus. This review aims to provide a synthesis of the most recent immunohistochemical and molecular markers used for the diagnosis of sweat gland tumors and to highlight their relationship with similar tumors in other organs. It will cover adenoid cystic carcinoma (NFIB, MYB, and MYBL1 fusion), cutaneous mixed tumor (PLAG1 fusion), cylindroma and spiradenoma and their carcinomas thereof (NF-κB activation through CYLD inactivation or ALKP1 hotspot mutation), hidradenoma and hidradenocarcinoma (MAML2 fusion), myoepithelioma (EWSR1 and FUS fusion), poroma and porocarcinoma (YAP1, MAML2, and NUTM1 fusion), secretory carcinoma (ETV6, NTRK3 fusion), tubular adenoma and syringo-cystadenoma papilliferum (HRAS and BRAF activating mutations). Sweat gland tumors for which there are no known molecular abnormalities will also be briefly discussed, as well as potential future developments.

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Translocation of the MAML2 gene in hidradenocarcinoma

Cited by 11 publications

References 3 publications

Low-grade Hidradenocarcinomas

Low-grade Hidradenocarcinomas

Malignant Cutaneous Adnexal Tumor in Posterior Occipital Region of a Child: A Case Report

Recent Advances on Immunohistochemistry and Molecular Biology for the Diagnosis of Adnexal Sweat Gland Tumors

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