The impact of location on the prognosis of squamous cell carcinomas of the anorectal region.

BACKGROUND: Because anal and rectal squamous cell carcinomas (R-SCCs and A-SCCs) share a common histology and an excellent response to chemoradiation, we hypothesized that R-SCC and A-SCC may represent a similar biological entity, and location would not affect clinical presentation and prognosis. METHODS: Patients diagnosed with R-SCC (n = 2881) and A-SCC (n = 21,854) were identified in the Surveillance, Epidemiology, and End Results database (1998-2013). R-SCCs were staged based on American Joint Committee on Cancer classification for A-SCC, and impact of location was analyzed accordingly. RESULTS: Compared to A-SCC, R-SCCs were more common in females (65% versus 48%, P < 0.001) and older patients (62 versus 56 yrs, P < 0.001). R-SCC presented with more advanced disease than A-SCC: mean size 4.2 versus 3.6 cm; T4 14% versus 5%; nodal involvement 20% versus 15%; and metastases 13% versus 6% (all P < 0.001). In multivariable analysis, R-SCCs and A-SCCs had similar disease-specific survival (DSS) for stages 0, I, and III; however, stage II R-SCC had significantly worse DSS than A-SCCs (P = 0.002). This was due to a greater proportion of T3 (>5 cm) R-SCC tumors (36% versus 27%, P < 0.001), which had a lower DSS than T2 (2-5 cm) tumors. Within T3 and T4 tumors, R-SCCs had lower DSS than A-SCCs. CONCLUSIONS: R-SCC presented with higher stages than A-SCC, suggesting a delayed diagnosis. Larger R-SCC (T3-T4) had worse survival compared to T3-4 A-SCC, which may be due to a combination of more advanced disease within-stage as well as the use of less efficacious therapeutic regimens. Therefore, location may represent a significant prognostic factor for SCC of the anorectal region.

Case Report: Intervention of radiotherapy improves the prognosis of rectal squamous cell carcinoma with high PD-L1 expression and enable patients to obtain NED status.

Background: Rectal squamous cell carcinoma (RSCC) is a rare malignancy of the rectal tumor. Due to its extremely low incidence, there is still a lack of high-level treatment evidence and clinical consensus on this disease. Case report: In this article, we report a treatment process of RSCC with high PD-L1 expression. Firstly, this patient received 2 cycles of Pembrolizumab immunotherapy, but the efficacy was less sanguine. Subsequently, 4 cycles of mFOLFOX6 chemotherapy were synchronously performed on the basis of the initial regimen. Although partial remission was achieved in the lymph nodes thereafter, the changes in the primary lesions were still not significant. After that, the patient received radiotherapy, and followed by 6 cycles of PC (Albumin-binding Paclitaxel and Nedaplatin) regimen chemotherapy combined with Pembrolizumab. Eventually, the patient achieved no evidence of disease (NED) status, and no signs of recurrence or metastasis were found after 12 months of follow-up. Conclusion: This is the first report of a RSCC patient with high PD-L1 expression achieving a complete response. Looking back over the whole treatment process of this patient, we found that the participation of radiotherapy was the inflection point of prominent efficacy, which may provide a new idea for the selection of comprehensive treatment strategies for patients with RSCC.

The first comprehensive genomic characterization of rectal squamous cell carcinoma.

BACKGROUND: Rectal cancers represent 35% of colorectal cancers; 90% are adenocarcinomas, while squamous cell carcinoma accounts for 0.3% of them. Given its rarity, little is known concerning its pathogenesis, molecular profile and therapeutic management. The current treatment trend is to treat rectal squamous cell carcinoma by analogy to anal squamous cell carcinoma with definitive chemo-radiotherapy, setting aside surgery in case of local recurrence. METHODS: We performed an in-depth genomic analysis (next-generation sequencing, copy number variation, and human papilloma virus characterization) on 10 rectal squamous cell carcinoma samples and compared them in silico to those of anal squamous cell carcinoma and rectal adenocarcinoma. RESULTS: Rectal squamous cell carcinoma shows 100% HPV positivity. It has a mutational (PIK3CA, PTEN, TP53, ATM, BCL6, SOX2) and copy number variation profile (3p, 10p, 10q, 16q deletion and 1q, 3q, 5p, 8q, 20p gain) similar to anal squamous cell carcinoma. PI3K/Akt/mTOR is the most commonly affected signaling pathway similarly to anal squamous cell carcinoma. Most commonly gained or lost genes seen in rectal adenocarcinoma (FLT3, CDX2, GNAS, BCL2, SMAD4, MALT1) are not found in rectal squamous cell carcinoma. CONCLUSION: This study presents the first comprehensive genomic characterization of rectal squamous cell carcinoma. We confirm the existence of this rare histology and its molecular similarity with anal squamous cell carcinoma. This molecular proximity confirms the adequacy of therapeutic management based on histology and not localization, suggesting that rectal squamous cell carcinoma should be treated like anal squamous cell carcinoma and not as a rectal adenocarcinoma.

Patterns of Care and Outcomes of Low-Lying Adenocarcinoma and Squamous Cell Carcinoma of the Rectum.

PURPOSE: Squamous cell carcinoma (SCC) of the rectum is a unique entity that lacks definitive guidelines regarding prognosis and treatment. This study aimed to analyze patterns of care and survival for SCC and adenocarcinoma (AC) of the rectum. METHODS: This was a retrospective analysis of patients with stage I-III SCC or AC of the rectum treated from 2004 to 2016 from the National Cancer Database. The treatment groups analyzed were surgery alone (S), chemoradiation followed by surgery (CRT + S), surgery followed by chemoradiation (S + CRT), and definitive chemoradiation (CRT). Patient- and clinical-related factors were compared. Overall survival was assessed with the Kaplan-Meier method and Cox proportional regression models. RESULTS: Of the patients studied, 21,587 (97.1%) were AC and 640 (2.9%) were SCC. Among patients with AC, most (n = 8549, 59.4%) received chemoradiation followed by surgery; those with SCC (n = 305, 66.4%) received definitive chemoradiation. Among patients who received surgery, the majority (69.2%) with AC histology had a low anterior resection while the majority (52.1%) of SCC had an abdominoperineal resection. Five-year overall survival of AC versus SCC in the entire cohort was 61.6% versus 56.1%, respectively (p < 0.001). On multivariable analysis for AC, CRT + S (HR 0.61, p < 0.001), or S + CRT (HR 0.67, p < 0.001) had improved survival compared to S alone while those who had definitive CRT (HR 1.55, p < 0.001) had worse survival. CONCLUSIONS: SCC of the rectum tends to be treated like anal cancers with definitive chemoradiation, with similar survival to historical reports of anal cancer. AC of the rectum is most commonly treated under the rectal cancer paradigm.

A Rare Case of Rectal Squamous Cell Carcinoma Treated with Nigro Protocol.

Squamous cell carcinoma (SCC) of the rectum is a rare malignancy, and the optimal treatment strategy remains unknown. Cases are limited in the literature, and although historically treated with surgical resection, more recent cases have suggested success with chemotherapy. Although Nigro protocol was initially developed for anal SCC, we present a case of rectal SCC successfully treated with the Nigro protocol. Our case supports the use of chemoradiotherapy as initial treatment for rectal SCC over surgery.

A Rare Case of Primary Rectal Squamous Cell Carcinoma and the Use of Cytokeratin Markers.

Lower gastrointestinal cancers are commonly adenocarcinoma of the colon and rectum and squamous cell carcinoma (SCC) of the anus. Rectal squamous cell carcinoma (SCC) is a rare gastrointestinal tract malignancy, as rectal SCC is assumed to be from the migration of anal squamous cells. However, primary rectal SCC is rarer. Here, we present a case of a 63-year-old male who was found to have rectal SCC that was very close to the anus. Through literature review, it was noted that SCC and adenocarcinoma of rectal origin stain positive for cytokeratin CAM 5.2 and not the anal canal lesions. This patient's tumor was positive for CAM 5.2. The patient was treated with 5-fluorouracil and mitomycin C with radiation therapy for five weeks. The post-therapy repeat PET scan showed complete resolution of the tumor and oligometastasis. Unfortunately, the 20-week follow-up PET CT showed para-aortic and retrocrural lymph nodes consistent with malignancy. This case emphasizes the use of immunohistochemical stains for diagnosis and treatment planning in patients with rectal SCC. Once the diagnosis was confirmed, the patient was treated as anal SCC. The importance of differentiating between rectal and anal SCC can be argued, although the treatment is the same; however, the prognosis is worse based on nodal involvement in rectal SCC. Patients with early intervention have a five-year overall disease-free survival of greater than 80%.

Concurrent Chemoradiation With 5-Fluorouracil and Mitomycin in Squamous Cell Carcinoma of the Rectum.

Rectal carcinoma-squamous type is infrequently seen. Etiopathogenesis, prognosis, and therapeutic management of rectal squamous cell carcinoma (SCC) are not clearly defined. Rectal SCC is now approached with definitive upfront chemoradiotherapy (CRT), with 5-fluorouracil (5-FU) and mitomycin with a goal to avoid surgery. However, its management is planned based on histology features regardless of the localization of SCC rectal cancer. We present a case of a 47-year-old Caucasian female with rectal SCC who is under remission for two years after being treated with upfront chemoradiation with mitomycin and 5-fluorouracil (5-FU).

Multiple Primary Malignant Neoplasms in an Elderly Patient.

Only a few case reports to date have described patients with three or more cancers. However, the incidence of multiple primary malignancies is increasing due to the improved survival of cancer patients, the prolonged lifespan of the general population, and better diagnostic techniques. This report describes a 73-year-old woman with primary breast, rectal squamous cell, and renal cell carcinomas. This case is unique because, in addition to having three primary malignancies, this patient had rectal squamous cell carcinoma-one of the rarest types of rectal cancer. We discuss screening and prevention of multiple malignancies and rectal squamous cell carcinoma, as well as methods for managing these patients.

A case of metastatic rectal squamous cell carcinoma initially diagnosed as lung cancer.

Squamous cell carcinoma (SCC) of the rectum is extremely rare with a reported incidence of only 0.025-0.1% of all colorectal tumors. The patient was a 68-year-old man who presented with fatigue, dry cough, shortness of breath, and unintentional weight loss. A chest CT revealed a left suprahilar mass suspected to be lung cancer and an initial diagnosis of primary lung cancer was made. However, fluorodeoxyglucose positron emission tomography and computed tomography (FDG-PET/CT) exam revealed an intensely hypermetabolic rectal mass which turned out to be rectal squamous cell carcinoma. This is the first report that shows FDG-PET/CT images of rectal squamous cell carcinoma metastasis to the skin, muscle, bone, and lung. Use of PET/CT in the initial diagnosis of non-resectable rectal cancers may avoid unnecessary surgery.

Carcinoma espinocelular de reto: relato de caso / Squamous cell carcinoma of the rectum: a case report

O Carcinoma Espinocelular de Reto é entidade extremamente rara e seu comportamento biológico permanece desconhecido. O tratamento pode variar entre radio e quimioterapia isoladamente ou complementar ao tratamento cirúrgico. Relatamos caso de carcinoma espinocelular de reto superior, tratado com radio e quimioterapia, com regressão total da lesão.

Squamous cell carcinoma of the rectum is a extremely rare neoplasm and its biological behavior remains unknown. Treatment varies from surgery with and without adjuvant therapy to chemotherapy and radiotherapy alone. We present a patient with squamous cell carcinoma of the superior rectum who underwent chemo and radiotherapy exclusively, with total regression of the tumor.