Cytogenetic and fluorescence in situ hybridization analyses of a microcystic adnexal carcinoma with del(6)(q23q25)

Wohlfahrt, Caspar; Ternesten, A; Sahlin, Pelle; Islam, Quamrul; Stenman, Göran

doi:10.1016/s0165-4608(96)00417-7

Cited by 15 publications

(15 citation statements)

References 16 publications

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“…Owing to the rarity of MACs, the molecular characteristics remain almost undefined to date. Wohlfahrt et al 9 previously performed cytogenetic analysis of a MAC and found a clonal 6q deletion as the sole karyotypic change in this tumour. The authors suggested that this observation, together with the histopathological similarities between sweat gland tumours, such as MACs and salivary gland tumours, emphasize the histogenetic relationships between these tumour types.…”

Section: Discussionmentioning

confidence: 70%

Expression of Hedgehog signalling molecules in microcystic adnexal carcinoma

et al. 2021

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Background. Microcystic adnexal carcinoma (MAC) is a rare skin neoplasm that has not been characterized on a molecular basis. Aim. To assess expression profiles of Hedgehog (HH) signalling molecules in MAC and control tumours. Methods. Immunohistochemistry was performed for Sonic Hedgehog (SHH), Indian Hedgehog (IHH), Patched 1 (PTCH1) and Smoothened (SMO) on patient MAC tissue (n = 26) and control tumour tissue, including syringoma (SyG; n = 11), trichoepithelioma (TE; n = 11) and basal cell carcinoma (BCC; n = 12) tissues. Results. Patched 1 and SMO immunoreactivity was significantly higher in BCC than in SyG, TE or MAC (P < 0.001 and P < 0.03, respectively). The highest IHH expression was observed in BCC and TE compared with SyG and MAC (P < 0.04). Notably, the highest SHH protein expression was observed in SyG compared with MAC, TE and even BCC (P < 0.001). In patients with MAC, SMO immunoreactivity significantly (r = 0.51; P < 0.01) correlated with PTCH1 expression. Further correlation studies did not show significant associations between the HH expression markers assessed (P > 0.05). Conclusion.Our results indicate that alterations of the HH signalling are unlikely to play a major role in the pathogenesis of MAC, which is in contrast to the morphologically similar BCC and TE. Our observation provides additional information to the limited molecular pathology knowledge on this rare tumour.

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Section: Discussionmentioning

confidence: 70%

Expression of Hedgehog signalling molecules in microcystic adnexal carcinoma

et al. 2021

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“…In addition, the process of clonal expansion has been cytogenetically proven in both benign and malignant skin TDD. 20,21 The 296 multiclonal cytogenetic pattern reported in clear cell hidradenoma 20 and microcystic adnexal carcinoma 21 seems to reflect both cytogenetic convergence and divergence during neoplastic progression resulting in tumor cell heterogeneity with kinetic differences in malignant tumors only.…”

Section: Discussionmentioning

confidence: 99%

Cell proliferation in skin tumors with ductal differentiation: patterns and diagnostic applications

Pozo¹,

Camacho²,

Ríos‐Martín

et al. 2000

J Cutan Pathol

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The kinetic features of skin tumors with ductal differentiation (TDD) remain mainly unknown. We selected 88 skin TDD (D-PAS-positive cuticles) classified according to Murphy and Elder's criteria. Tumors studied included 13 poromas, 12 nodular hidradenomas, 10 cylindromas, 6 spiradenomas, 9 syringomas, 9 chondroid syringomas, 7 porocarcinomas, 15 malignant nodular hidradenomas, and 7 not otherwise specified carcinomas. The same tumor areas were evaluated for mitotic figure counting (MFC) and proliferation rate (PR = MIB-1 index), screening 10 consecutive high-power fields (HPFs) in the most cellular areas. Results were recorded by HPF and tumor cellularity, considering both average and standard deviation. Differences were analyzed by Student's t-test and analysis of variance (ANOVA) and considered significant if p<0.05. PR was significantly higher in malignant (23.29 +/- 12.49) than in benign tumors (3.86 +/- 4.44) and in poromanodular hidradenoma (4.99 +/- 3.34) than in spiradenoma-cylindroma-syringoma (1.91 +/- 1.67), but not by malignant tumor type. MFC was significantly higher in malignant (25.52 +/- 4.10) than in benign tumors (1.57 +/- 0.38), showing porocarcinomas the biggest MFC/10 HPF and malignant nodular hidradenomas the highest MFC/1000 cells. PR and MFC are useful malignancy criteria in skin TDD and should be evaluated by tumor cellularity to avoid potential misinterpretations related with tumor heterogeneity.

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“…We have previously demonstrated a genetic link between salivary gland tumours and adnexal tumours 7–10. Thus, we have shown that subsets of mucoepidermoid carcinomas of the salivary glands and cutaneous hidradenomas are characterized by identical gene fusions, ie CRTC1–MAML2 and EWSR1–POU5F1 fusions generated by t(11;19)(q21;p13) and t(6;22)(p21;q12) translocations, respectively.…”

Section: Introductionmentioning

confidence: 87%

The MYB–NFIB gene fusion—a novel genetic link between adenoid cystic carcinoma and dermal cylindroma

Fehr

Kovács

Löning³

et al. 2011

The Journal of Pathology

101

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We have recently shown that the recurrent t(6;9)(q22 ∼ 23;p23 ∼ 24) translocation in adenoid cystic carcinoma (ACC) of the breast and head and neck results in a fusion of the two transcription factor genes MYB and NFIB. Here we demonstrate, for the first time, that benign sporadic, dermal cylindromas also express the MYB-NFIB gene fusion. RT-PCR and immunohistochemical analyses revealed that eight of 12 analysed tumours (67%) expressed MYB-NFIB fusion transcripts and/or stained positive for MYB protein. Nucleotide sequence analyses confirmed that the composition of the chimeric transcript variants identified was identical to that in ACC, suggesting a similar molecular mechanism of activation of MYB in cylindroma as in ACC. In contrast, no evidence for the presence of the MYB-NFIB fusion was found in other types of basaloid skin and salivary gland tumours, indicating that the fusion indeed has a restricted expression pattern. Our findings broaden the spectrum of neoplasms associated with MYB oncogene activation and reveal a novel genetic link between ACC and dermal cylindroma. These results, together with our previous observations, further strengthen the evidence for common molecular pathways of importance for the development of both benign and malignant breast, salivary and adnexal tumours.

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Cytogenetic and fluorescence in situ hybridization analyses of a microcystic adnexal carcinoma with del(6)(q23q25)

Cited by 15 publications

References 16 publications

Expression of Hedgehog signalling molecules in microcystic adnexal carcinoma

Expression of Hedgehog signalling molecules in microcystic adnexal carcinoma

Cell proliferation in skin tumors with ductal differentiation: patterns and diagnostic applications

The MYB–NFIB gene fusion—a novel genetic link between adenoid cystic carcinoma and dermal cylindroma

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