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Whole Exome Sequencing of a Patient with Metastatic Rare Tumors 2015; volume 7:5719 Whole exome sequencing hidradenocarcinoma, malignant acrospiroma, malignant clear cell hidradenomas and clear Correspondence: Eva Gupta, Division of of a patient with metastatic cell eccrine carcinoma. The natural course of Hematology and Oncology, Mayo Clinic, 4500 San hidradenocarcinoma and the tumor includes local and frequently multi- Pablo Road, Jacksonville, FL 32224, USA. review of the literature ple recurrences.8 As with all human cancers, Tel.: +1.904.953.8508 - Fax: +1.904.953.8508. there is variability in the clinical course of HA E-mail: [email protected] 1 2 patients; however it is important to note that Eva Gupta, Kimberly J. Guthrie, Key words: whole genome exome sequencing, many will experience frequent local recur- Murli Krishna,3 Yan Asmann,4 hidradenocarcinoma, mutation sequencing. rences following their initial diagnosis and Alexander S. Parker,5 Richard W. Joseph1 treatment. Not surprisingly, involvement of Contributions: RJ conceived the manuscript idea; 1 Division of Hematology and Oncology, regional lymph nodes and the presence of dis- RJ and EG wrote the manuscript; MK provided the 2 Center for Individualized Medicine, tant metastases are associated with a poor pathologic diagnosis and slides in the manu- 3Department of Pathology/Lab Medicine, prognosis.9 Related to this, once metastatic script; KG and AP helped with interpretation of 4Division of Cancer Biology, disease is diagnosed 5 year survival drops to the gene studies; all authors have approved this 5Departments of Health Sciences less than 50%.5 Currently there are no uniform version of the manuscript. Research and Medicine, Mayo Clinic, guidelines for the treatment of metastatic HA. Conflict of interests: the authors declare no Jacksonville, FL, USA Moreover, the molecular and genetic events that underlie these tumors are poorly under- potential conflict of interests. stood. Motivated by this, we report the first Received for publication: 16 November 2014. case of metastatic HA with molecular profiling Revision received: 17 November 2014. Abstract and identify possible targets for treatment on Accepted for publication: 18 November 2014. the basis of identified genetic mutations. This work is licensed under a Creative Commons Hidradenocarcinoma is a rare malignancy of Attribution NonCommercial 3.0 License (CC BY- the sweat glands with only a few cases report- NC 3.0). ed in literature. The management of these Case Report tumors is based on the extent of disease with ©Copyright E. Gupta et al., 2015 Licensee PAGEPress, Italy local disease managed with surgical resection. A 32-year old man with no significant past These can tumors carry a high potential of lym- Rare Tumors 2015; 7:5719 medical history presented with a several doi:10.4081/rt.2015.5719 phatic and vascular spread and local and dis- month history of a non-healing ulcerative tant metastases are not uncommon. Given the lesion under his right axilla. On examination, rarity of the tumor and lack of genetic and clin- multiple palpable subcutaneous nodules were 13 months of starting tamoxifen, the patient ical data about these tumors, there is no con- present in the axilla, groin, face, neck and sensus on the proper management of metasta- remains without clinical progression. chest wall. Excisional biopsy of the axillary In parallel to initiating treatment, an axil- tic disease. Here in we report the first case of lesion showed a poorly differentiated HA metastatic hidradenocarcinoma with detailed lary lymph node was biopsied, the presence of (Figure 1). The diagnosis of carcinoma was metastatic tumor was confirmed, and the molecular profiling including whole exome supported by positive immunohistochemical sequencing. We identified mutations in multi- tumor tissue was sent for genomic profiling staining for keratins (AE1/AE3 and CK7). In using Foundation One testing (Foundation ple genes including two that are potentially tar- addition, the tumor was strongly positive for getable: PTCH1 and TCF7L1. Further work is Medicine, Cambridge MA, USA) as well as estrogen receptor (ER), but negative for Baylor’s whole exome sequencing (Baylor necessary to not only confirm the presence of Her/2neu overexpression. Staging with College of Medicine, Houston, TX, USA). The these mutations but also to confirm the clini- positron emission tomographic computed Foundation Medicine panel identified four cal significance. tomography (PET CT, Figure 2) scan showed genetic alterations including FGFR1 amplifica- multiple enlarged hyper-metabolic nodes in tion, CDH1 splice mutation, MYST3 amplifica- the right axilla and bilateral supraclavicular tion and ZNF703 amplification (Table 1). The lymph nodes. A lytic lesion in the posterior Baylor whole exome analysis identified no Introduction right 5th rib was also seen. The patient was not germline mutations, two cancer related and thought to be a surgical candidate secondary to actionable genes, seven tumor associated Hidradenocarcinoma (HA) is a rare tumor of metastatic disease. A single case report in the the sweat glands with an incidence as low as literature found prolonged response to pacli- genes, and approximately 180 variants in non- 0.05% in the general population.1-4 In the taxel and carboplatin, and therefore, we cancer associated genes (Table 1). The action- Surveillance, Epidemiology, and End Results offered our patient palliative cytotoxic able cancer related genes identified in the (SEER) data, the incidence rate of apocrine- chemotherapy with this regimen.10 The patient Baylor panel included PTCH1 and TCF7L1, and eccrine carcinomas was 2.6 per 1 million per- completed three cycles of chemotherapy and the mutations in cancer genes without identi- son years from 1978 through 2005.5 The face restaging scans revealed progressive disease fiable targets included ARID1A, CDH1, and the upper extremities are the most com- in the bilateral axilla. Given the progressive FBXO11, FNBP1, IL6ST, MYC, and WHSCIL1. mon sites of involvement but it can also disease, chemotherapy was stopped and the involve the eyelid, scalp, finger and the peri- patient received palliative radiation to his anal region.6 While most of these tumors arise bilateral axilla, to which he had a significant de novo, investigators have reported that these response. Upon completion of radiation Discussion tumors can also develop from preexisting patient began tamoxifen, an estrogen receptor hidroadenomas.7 antagonist based on the ER positivity of his Hidradenocarcinomas are rare malignan- Based on histological classification, there tumor and some success with tamoxifen in cies of the sweat glands, and due to the rarity, are recognized variants including nodular other ER positive hidradenocarcinomas.11-13 At there is little evidence to guide therapeutic [Rare Tumors 2015; 7:5719] [page 29] Review options and even less information about the genetic and molecular alterations of these tumors. Herein, we report the first case of genomic analysis of this rare tumor and the potential actionable mutations. Clinically, HA present as painless slow grow- ing firm or cystic nodules. These tumors have high metastatic potential and frequently metastasize to the lungs, liver, and bone and usually have a very aggressive course. Immunophenotypically the tumors are positive for epithelial markers such as cytokeratin and CEA. Approximately 30% of apocrine-eccrine carcinomas tumors stain positive for ER by immunohistochemistry.11-13 In at least one case, strong Her-2/neu positivity by IHC and gene amplification by fluorescence in situ hybridization (FISH) has been demonstrated.14 The standard of care for the treatment of localized HA usually includes wide local exci- sion with clear margins. The role of a sentinel lymph node biopsy is unclear. In about 50% of moderately to poorly differentiated tumors, lymph node involvement has been reported.15 While regional lymph node dissection is usual- ly performed in clinically positive lymph nodes, the role of adjuvant chemotherapy and radio- therapy is not established. The optimal treatment for patients with metastatic disease remains unclear. Multiple reports of chemotherapy have been published with variable efficacy and are summarized in Table 2 and outlined below.16-27 A prolonged response for 16 months to carboplatin and paclitaxel was seen in a patient with metastat- ic apocrine carcinoma of the scalp; however the patient ultimately had scalp recurrence and brain invasion that led to his death.10 A response to capecitabine up to 24 months was seen in patient with metastatic HA of the elbow.16 A complete remission for 16 months was reported by Piedbois,17 with combination chemotherapy including cisplatin, doxoru- bicin, mitomycin C and vincristine. Bellman et al.18 reported a case of HA with metastases to the skin, which had excellent response to 5- fluorouracil. Mezger et al.19 also reported two cases of metastatic HA treated with combina- tion chemotherapy consisting of Adriamycin, cyclophosphamide, vincristine, and bleomycin with one of the two patients achieving a com- plete remission for two years before succumb- ing to brain metastasis and with the second patient achieving a partial remission lasting for only four months.19 In another report use of cetuximab and cisplatin in a patient with axil- lary apocrine carcinoma with brain metastases had disease progression after two cycles.20 Use of 5 FU and cisplatin resulted in disease pro- gression within 6 months in another case.21 In addition to chemotherapy, targeted Figure
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