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Revista Española de Enfermedades Digestivas

versión impresa ISSN 1130-0108

Rev. esp. enferm. dig. vol.108 no.12 Madrid dic. 2016 



Primary squamous cell carcinoma of the rectum: an atypical histology

Carcinoma epidermoide primario de recto medio: una histología atípica



Araceli Ballestero-Pérez, Pedro Abadía-Barnó, Francisca García-Moreno-Nisa, Javier Die-Trill and Julio Galindo-Álvarez

Department of General Surgery and Digestive Diseases. Hospital Universitario Ramón y Cajal. Madrid, Spain





Squamous cell carcinoma of the rectum is one of the differential diagnoses of rectal tumors. It represents a low incidence in the population. The etiopathogenesis and the biology of these tumors are unclear, for this reason the gold standard treatment is difficult to establish. We present a 47-years-old woman who had a squamous cell carcinoma in medium rectum. She was treated with radiation therapy and chemotherapy and the treatment was followed by surgical excision.

Key words: Rectal cancer. Rectum. Squamous cell carcinoma. Surgery. Radiotherapy. Radiochemotheraphy.


El carcinoma primario escamoso de recto forma parte del diagnóstico diferencial de los tumores rectales, presentando una baja incidencia en la población. Se desconoce su etiopatogenia así como la biología del tumor, por lo que es difícil establecer un tratamiento al respecto, no existiendo un consenso sobre el mismo. Presentamos el caso de una mujer de 47 años con un carcinoma epidermoide de recto medio tratada con radioterapia y quimioterapia neoadyuvante y posterior resección quirúrgica.

Palabras clave: Cáncer rectal. Recto. Carcinoma epidermoide. Cirugía. Radioterapia. Radioquimioterapia.



Squamous cell carcinoma of the rectum is a rarity within colorectal tumors entity. The incidence of this kind of tumors is estimated at 0.1-0.25 per 1,000 tumors (1). Due to the small number of cases of this disease, the pathogenesis is unclear and it is attributed to different assumptions about the available literature. Although surgery has been considered as the main route of approach, treatment is currently under discussion.


Case report

A 47-year-old woman presented with a history of uterine myoma of 10 years evolution and bilateral salpingectomy due to endometriosis. She was studied because of abdominal pain located in lower hemiabdomen, as well as hematochezia and diarrhea, these symptoms accompanied by weight loss during the last month. Physical examination showed a good overall appearance, although a rectal examination revealed a friable mass bleeding to the fingertip friction. The blood test showed hemoglobin levels at the lower limit of normal blood. A colonoscopy showed that the lesion was at 8 cm of the anal verge. It was an exophytic and stenotic tumor with malignant appearance. Biopsies revealed that the rectal mucosa was infiltrated by a squamous cell carcinoma. Immunohistochemistry samples showed CK7 positivity and CK20 negativity with overexpression of p16. HPV 16 was detected by PCR technique. At the cervical cytology and the biopsy by uterine curettage no pathological findings were identified. The computed tomography (CT) showed an irregular mass in the middle rectum as well as lymph nodes in the mesorectal fat with pathological appearance and other smaller unspecified periaortic nodes (Fig. 1). The magnetic resonance imaging revealed a bulky mass of 8 cm in length in the middle rectum with infiltrative appearance which invaded the mesorectal fat and fornix vaginal without cleavage plane (T4CRM+N+) (Fig. 2). The case was discussed by a multidisciplinary committee in our center that decided to perform neoadjuvant chemotherapy with cisplatin and neoadjuvant radiotherapy. After 4 months of treatment, the revaluation clinical tests showed a poor response and surgery was planned. The patient underwent a posterior pelvic exenteration with pelvic peritonectomy and intraoperative radiotherapy. The postoperative histopathological findings were a squamous cell carcinoma of rectum moderately differentiated infiltrating the radial margin pT3N1. Immunohistochemistry tests revealed positivity for AE1, AE3, CK7 and overexpression of p16 and p63. The postoperative period was uncomplicated. She was treated with adjuvant cisplatin and fluouracil. Nine months after the treatment the patient showed local relapse in the imaging tests and she has been treated until the present day with chemotherapy with little response. At the time this report was written, the patient had 24 months of follow-up.





Squamous cell carcinoma of the rectum is an extremely rare finding. Its incidence is estimated around 0.1-0.25 per 1,000 colorectal tumors (1). It has been described in the literature in about one hundred cases (case reports and series of cases). The first reported case of this kind of colon neoplasm was made in 1919 (2). Later, in 1933, the first primary squamous cell carcinoma of the rectum was described by Raiford (3).

The pathogenesis is still uncertain. Several hypotheses have been proposed, such as the appearance of a squamous metaplasia due to an inflammation secondary to an infection (4), chronic irritation by radiotherapy exposure (5) or by intestinal inflammatory bowel disease (6). It has also been described the possibility of stem cells being able to differentiate into squamous tissue (7) or the probability of a transformation of adenomas or adenocarcinomas to this type of tumors (8).

In our patient, it was concluded that a persistent inflammation in the pelvis due to endometriosis may have influenced in the pathogenesis. There were no other demonstrated factors or unsafe sex that would affect the tumor progression.

At present the predisposing risk factors cannot be established with certainty. Interrelation with the HPV infection has not been demonstrated (9) although it has been associated with another type of infections as the colitis by Entamoeba histolytica or schistosomiasis (4). According to publications and the review of the literature by Kassir et al., it appears more frequently in female form cases (66% women/34% males) and along the 5th-6th decade of life, as in this case (10).

The symptoms of rectal epidermoid are similar to those of an adenocarcinoma: abdominal pain, alteration in bowel habit, tenesmus and rectal bleeding (1).

Diagnosis may be delayed until the symptoms are not evident. In 1979 Williams et al. established the diagnostic criteria for colorectal epidermoid carcinoma (11): absence of extension of the lesion from the anal epithelium, absence of tumor epidermoid in another primary site, absence of squamous fistula tract within inflammatory bowel disease and, finally, histological confirmation.

In our patient, any gynecological involvement or any other cause that could have caused a local infiltration to the rectum was discarded. Histology confirmed it.

Magnetic resonance imaging (MRI) and endo-rectal ultrasound are necessary for any diagnosis of rectal tumors. They provide information about the loco-regional involvement.

Immunohistochemistry differentiates the anal or rectal squamous cell carcinoma origin through cytokeratin analysis, being AE1/AE3, 34bE12 and CK5 the most frequent ones (1).

There is no consensus on the staging of these tumors. Some authors staged TNM classification according to the rectal adenocarcinoma and others prefer TNM classification according to anal squamous cell carcinomas due to their common histology (12).

No treatment guidelines have been described due to the low incidence of these kinds of tumors and poor knowledge of their biology. Treatment is extrapolated from rectal adenocarcinoma and anal squamous cell carcinomas guidelines.

It has long been believed that surgery is the main option based on retrospective series and observational studies. However, it has recently been published that when chemo-radiotherapy is used alone or as a neoadjuvant treatment, complete clinical and pathological response is achieved in many cases.

Surgery resection for T1 tumors (mucosa and submucosa) and T2 tumors (muscularis propria) was the first option with 20% tumor recurrence (1,13). In advanced local tumors, node-positive or poorly differentiated tumors, neoadjuvant chemo radiotherapy is preferred.

The total dose of radiation is similar to rectal adenocarcinomas chemotherapy treatments and chemotherapy is based on anal squamous cell carcinomas guidelines (fluorouracil and Mitomycin C) (12).

Musio et al. (12) published a small series (8 patients) which were treated with a radiotherapy (total radiation from 45 to 76.5 Gy) and chemotherapy (fluorouracil and Mitomycin C most cases) combination, and they reported only one recurrence that finally needed surgical resection. They concluded that high doses of chemo-radiotherapy could be enough for an adequate tumor control without surgical resection.

Péron et al. (14) treated ten patients with chemo-radiotherapy and only one with radiotherapy. They described a partial response in four of them and a complete response in seven with no tumor evidence. The patients with partial clinical response underwent surgical resection, two of them achieving complete pathological response. Two patients developed tumor recurrence. The median follow-up was 42 months. Thereby these authors suggest that chemo-radiation can be used as a healing technique and only in cases of local recurrence or no response surgery could be the best option.

Nahas et al. (15) presented nine patients treated with chemo-radiotherapy, and only two of them were healed with this treatment. Seven of them underwent surgical resection, six of them presenting a complete pathological response.

Authors, as previously published in the literature, defend the use of high-dose radiotherapy and chemotherapy for squamous cell carcinoma of the rectum. They found complete responses in 60% of cases. Only surgery will perform in recurrence or no clinical response.

Nowadays, there is no evidence or guidelines for this kind of tumors, so that it is necessary to individualize each case and evaluate surgical risk as well as that of chemotherapy or radiation therapy.

A literature review has been performed and 103 cases of rectum squamous cell carcinomas have been found. All of them were published in the Spanish or English language. Fifteen authors have published series of cases (Table I) and nineteen authors have described case reports (Table II). There is a lot of variability regarding surgical treatment, survival and oncological results.

The most important prognostic factor is the TNM classification. It is worse for rectal squamous cell carcinomas than for colon squamous cell carcinoma and rectum adenocarcinoma, with increased mortality (1).

In conclusion, rectal squamous cell carcinoma is a rare neoplasm, with unknown tumor biology and pathogenesis. In fact, it is necessary to individualize the optimal treatment for each tumor and patient.



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Araceli Ballestero-Pérez.
Department of General Surgery and Digestive Diseases.
Hospital Universitario Ramón y Cajal.
Ctra. de Colmenar Viejo, km 9.1.
28034 Madrid, Spain

Received: 24-08-2015
Accepted: 09-11-2015